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Frequency of the C677T Polymorphism of MTHFR, G20210A of Prothrombin and R506Q of Factor V Leiden in Type 2 Diabetics in Abidjan
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作者 N’Guessan-Blao Rebecca Yapo Vincent +3 位作者 Yayo-Ayé Mireille Adjambri Eusèbe Koné-Koné Fatoumata Sawadogo Duni open journal of genetics CAS 2024年第1期13-25,共13页
In Africa, the prevalence of diabetes is escalating and remains a concern due to the numerous complications it causes. Vascular damage associated with diabetes leads to a prothrombotic state observed in diabetic indiv... In Africa, the prevalence of diabetes is escalating and remains a concern due to the numerous complications it causes. Vascular damage associated with diabetes leads to a prothrombotic state observed in diabetic individuals. Diabetes is a complex and multifactorial disease involving genetic components. With the aim of preventing complications and contributing to an efficient management of diabetes, we investigated genes likely to lead to a risk of thrombosis, in particular the C677T of MTHFR, G20210A of prothrombin, and R506Q of factor V Leiden in type 2 diabetics in Abidjan receiving ambulatory care. A descriptive cross-sectional study was carried out on consenting type 2 diabetic patients. Mutation detection was carried out using the PCR-RFLP method employing restriction enzymes. Hemostasis tests (fibrinogen, D-dimers, fibrin monomers, and von Willebrand factor) were performed using citrate tubes on the Stage? Star Max automated system. Plasminogen activator inhibitor was assayed by ELISA method, and biochemical parameters were determined using the COBAS C311. The study population consisted of 45 diabetic patients, 51.1% of whom presented vascular complications, mainly neuropathy. Disturbances in hemostasis parameters were observed, with 15.5% of patients showing an increase in fibrin monomers. Mutation analysis revealed an absence of factor V mutation (factor V Leiden) and of G20210A mutation of the prothrombin gene. However, 15.6% of subjects had a heterozygous C677T mutation of MTHFR, with 57% of them being anemic. The exploration of biological and genetic factors associated with thrombotic risk is of significant interest in the optimal management of African type 2 diabetics. 展开更多
关键词 Type 2 Diabetes C677T of MTHFR G20210A Factor V Leiden Thrombosis
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Influence of Hemoglobin S Haplotypes on the Responses to Hydroxyurea Treatment in Children with Sickle Cell Disease in Abidjan, Côte d’Ivoire
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作者 Mireille Aye-Yayo Vincent Yapo +5 位作者 Boidy Kouakou Missa Louis Adjé Adia Eusèbe Adjambri Ebah Hermance Kassi Taïratou Kamagate Duni Sawadogo open journal of genetics CAS 2024年第1期1-12,共12页
Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been ass... Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been assessed yet. Therefore the objective of this study is to identify in Abidjan the HbS haplotypes that modulate HU treatment responses. Methods: In a cross-sectional descriptive and analytical study, children aged 5 to 15 years with SCD, and carrying the hemoglobin phenotypes SSFA2 and SFA2, were recruited into a HU treatment cohort. Various parameters on the haplotypes and the outcomes of the treatment were analyzed. Results: Thirty nine children with SCD were included. The phenotypic profile of the cohort was 86.6% of SSFA2 and 15.4% of SFA2. Three haplotypes were found, the Benin haplotype, the Senegal haplotype, and an atypical one. The participants belonged to three genotypes, Benin/atypical (64.1%), Benin/Senegal (33.3%) and Senegal/Senegal (2.6%). Overall, HU treatment was successful in all haplotypes with 12 out of 39 patients failing treatment after 12 months in the Benin haplotype group. The association between HU treatment success and the Benin haplotype was found in terms of the decrease in the number of white blood cells and the students missing class. Conclusion: The study revealed that inferring haplotype based on the phenotypic profile could be inaccurate. The proportion of atypical haplotype that were not previously described in Côte d’Ivoire was high. All the haplotypes seemed to be associated with HU treatment success but some patients with Benin haplotype did not respond well. 展开更多
关键词 Sickle Cell Disease CHILDREN HAPLOTYPE HYDROXYUREA Côte d’Ivoire
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Revolutionizing Non-Invasive Biomarker Discoveries: The Power of Methylation Screening Analysis in Cell-Free DNA Liquid Biopsy
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作者 Min Seob Lee Na Young Min +2 位作者 Hyuk Jung Kwon Yonjung Kim Isaac Kise Lee open journal of genetics CAS 2023年第1期48-74,共27页
Epigenetic changes of DNA, including methylation, have long been recognized as key indicators of various diseases, including aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylati... Epigenetic changes of DNA, including methylation, have long been recognized as key indicators of various diseases, including aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylation patterns for both hypermethylation and hypomethylation lead the way in discovery of novel diagnosis and treatment targets. Many different approaches are present to detect the level of methylation in whole genome (whole genome bisulfite sequencing, microarray) as well as at specific loci (methylation specific PCR). Cell-free DNA (cf-DNA) found in body fluids like blood provides information about DNA methylation and serves as a less invasive approach for genetic screening. Cell-free DNA and methylation screening technologies, when combined, have the potential to transform the way we approach genetic screening and personalized therapy. These technologies can help enhance disease diagnostic accuracy and inform the development of targeted therapeutics by providing a non-invasive way for acquiring genomic information and identifying disease-associated methylation patterns. We highlight the clinical benefits of using cell-free DNA (cf-DNA) liquid biopsy analysis and available methylation screening technologies that have been crucial in identifying biomarkers for disease from patients using a non-invasive way. Powering such biomarker discoveries are various methods of cf-DNA methylation analysis such as Bisulfite Sequencing and most recently, Methylation-Specific Restriction Enzyme (MSRE-seq) Analysis, paving the way for novel epigenetic biomarker discoveries for more robust diagnosis such as early disease detection, prognosis, monitoring of disease progression and treatment response as well as discovery of novel drug targets. 展开更多
关键词 Epigenetics Biomarkers Cell-Free DNA (cf-DNA) METHYLATION Liquid Biopsy Drug Target Methylation-Specific Restriction Enzyme (MSRE) Cancer Epigenetic Drugs HYPERMETHYLATION HYPOMETHYLATION
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Genetic Structure and Diversity Study of Cassava (Manihot esculenta) Germplasm for African Cassava Mosaic Disease and Fresh Storage Root Yield
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作者 Janatu Veronica Sesay Aiah Lebbie +3 位作者 Richard Wadsworth Ephraim Nuwamanya Souleymane Bado Prince Emmanuel Norman open journal of genetics CAS 2023年第1期23-47,共25页
A better understanding of population structure and genetic diversity among cassava germplasm for African cassava mosaic disease and fresh root yield traits is useful for cassava improvement programme. Phenotype-based ... A better understanding of population structure and genetic diversity among cassava germplasm for African cassava mosaic disease and fresh root yield traits is useful for cassava improvement programme. Phenotype-based selection for these traits is cumbersome due to phenotypic plasticity and difficulty in screening of phenotypic-induced variations. This study assessed quantitative trait loci (QTL) regions associated with African cassava mosaic disease (ACMD) and fresh storage root yield (FSRY) in 131 cassava (Manihot esculenta) genotypes using a genome-wide association study (GWAS). The single nucleotide polymorphism (SNP) loci and associated candidate genes, when validated, would be a valuable resource for marker-assisted selection in the breeding process for development of new cassava genotypes with improved resistance to ACMD and desirable high root yield. Population structure analysis using 12,500 SNPs differentiated the 131 genotypes into five distinct sub-groups (K = 5). Marker-trait association (MTA) analysis using the generalized linear model identified two QTL regions significant for ACMD and three for FSRY. This study demonstrated that DArTseq markers are useful genomic resources for genome-wide association studies of ACMD and FSRY traits in cassava for the acceleration of varietal development and release. 展开更多
关键词 Population Structure Genetic Variability GWAS SNP Markers CASSAVA
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Genetic Characterization of Nile Tilapia (Oreochromis niloticus) Strains from Senegal for Sustainable Local Aquaculture Production
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作者 Mbaye Tine Ramatoulaye Fall +1 位作者 Hamet Diaw Diadhiou Mbacké Sembene open journal of genetics CAS 2023年第1期1-22,共22页
The optimization of aquaculture production requires the selection of efficient strains. Thus, genetic improvement has become one of the important levers to boost the development of aquaculture. The objective of this s... The optimization of aquaculture production requires the selection of efficient strains. Thus, genetic improvement has become one of the important levers to boost the development of aquaculture. The objective of this study was to carry out genetic characterization of Nile tilapia Oreochromis niloticus, one of the most cultivated fish species in Senegal, in order to select an efficient strain to optimize local fish production. Thus, fish from five different populations (Richard-Toll, ANA, ITACA, Mbodiene and Sauvage) were analyzed, with 15 individuals per population. Genetic diversity and population structure were assessed using molecular genetic analyses by sequence characterized amplified region (SCAR) and microsatellite (SSR) markers. The analyses of the SCARII marker were conducted on four populations (ANA, ITACA, Sauvage and Mbodiene) while microsatellite analyses were conducted on all five populations. The results show high levels of polymorphism of SSR markers, and a high level of observed heterozygosity (Ho), indicating a high within-population genetic variability. These results are in agreement with the AMOVA results, which indicated a high within-population genetic variability (94%). The genetic structure analysis by DAPC indicates that the five populations analyzed are structured into four groups, which are highly heterogeneous because they share common allele individuals. The analysis of the genetic structure by AMOVA showed a low degree of differentiation between the populations (6%), in agreement with the genetic differentiation index (Fst = 0.059). The heterogeneity of studied populations implies a genetic flow over time, which may have existed between the original populations. The overall negative Tajima D values and low genetic differentiation indicate an excess of rare mutations in the populations studied, resulting from a recent population expansion from a limited number of initial breeders isolated in locale hatcheries. Thus, further studies with a much larger panel of markers are required to better differentiate the strains and identify the most efficient ones for sustainable local aquaculture production. 展开更多
关键词 Oreochromis niloticus POLYMORPHISM HETEROZYGOSITY Genetic Diversity Genetic Structure
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The Frequency of the v-AKT Murine Thymoma Viral Oncogene Homologue 1 Gene Amplification among Sudanese Women with Ovarian Cancer: A Cross-Sectional Study
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作者 Rawia Eljaili Elmassry Aisha Osman Mohammed +7 位作者 Amina Ibrahim Badawy Rasha Saad Abdalhamid Huda Abdalla Eltahir Safa Abass Mohammed Hammad Yahia Abdou Adil Abdelrahim Yousif Zubaida Abohumeda Adam Nazik Elmalaika Husaim open journal of genetics 2023年第2期75-82,共8页
Background: Protein kinase B (AKT/PKB) family is frequently amplified in ovarian cancer (OC). To the greatest of our knowledge, there is a lack of published reports about the amplification of the genes belonging to th... Background: Protein kinase B (AKT/PKB) family is frequently amplified in ovarian cancer (OC). To the greatest of our knowledge, there is a lack of published reports about the amplification of the genes belonging to the AKT family among Sudanese women with OC. The present study was conducted to detect the AKT1 gene amplification and its association with tumour types, grades, and ages among Sudanese women with OC, bearing in mind the ethnic variation. Methods: This institution-based study included 79 cases of women diagnosed with ovarian cancer (OC) at Omdurman Maternity Hospital in the period 2013-2018. Formalin-fixed, paraffin-embedded (FFPE) tissue sections were used to extract RNA. AKT1 gene amplification was assessed using quantitative real-time PCR. Results: The mean age (±SD) of included women was 49.29 (±13.612). The amplification of AKT1 gene was observed in 18/79 (22.8%) of OC women, with a high frequency in women with undifferentiated 1/2 (50%), clear cell 2/6 (33.3%), mucinous 3/11 (27.3%), endometrioid 3/17 (17.6%), and serous carcinomas 5/30 OC (16.7%). High frequency was seen in women with low (26.3%;n = 10/28) rather than in higher (19.5%;n = 8/33) grade carcinoma, and in older (25.8%;n = 8/23) rather than younger (18.2%;n = 2/9) women. No significant association between AKT1 gene amplification and tumour types, grades, and ages of women was observed (Fisher’s Exact test: p = 0.405, 0.593 and 0.851, respectively). Conclusion: AKT1 gene amplification arises in around one-fifth of Sudanese women with ovarian cancer (OC). It is seen more in undifferentiated, clear cell, and mucinous tumours types, and more frequently in low tumour grade and older women, but not to a statistically significant level. These outcomes sustenance previous studies suggesting that activated AKT genes have a vital role in OC progression and may offer a plan for targeted therapy and prognostic evaluation. 展开更多
关键词 AKT1 Gene Amplification Ovarian Cancer Cross-Sectional Study Quantitative Real-Time PCR SUDAN
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What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?
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作者 Fatou Diop Gueye Arame Ndiaye +5 位作者 Adji Dieynaba Diallo Mame Venus Gueye Ndiaga Diop Macoura Gadji Oumar Faye Mama Sy Diallo open journal of genetics 2023年第2期83-96,共14页
Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD wher... Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration. 展开更多
关键词 46 XX DSD SRY PHENOTYPE HYPERTROPHY
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A Comparative Analysis of CRISPR Screening Technologies
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作者 Yuhan Ai open journal of genetics 2023年第4期115-124,共10页
This paper offers a general review and comparative analysis of various types of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technologies. It evaluates the strengths and weaknesses of these techn... This paper offers a general review and comparative analysis of various types of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technologies. It evaluates the strengths and weaknesses of these technologies to identify the optimal approach for conducting genetic screens. Through an extensive literature review, this paper examines CRISPR nuclease, CRISPR activation (CRISPRa), and CRISPR interference (CRISPRi) screens. This study concludes that CRISPRa and CRISPRi are more advantageous due to their use of deactivated Cas9 proteins that only over-express or deactivate genes rather than irreversibly breaking genes like CRISPRn. Notably, CRISPRa is unique in its ability to over-express genes, while the other two technologies deactivate genes. Future studies may focus on inducing multiple mutations simultaneously—both gain-of-function and gene knockout—to carry out a more complete screen that can test the combinatorial effect of genes. Likewise, targeting both exons and introns can offer a more thorough understanding of a specific phenotype. 展开更多
关键词 CRISPR CRISPR-Cas9 Genome Engineering sgRNA Genetic Screen
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Correlation between Reasons for Prescription and Karyotype Results in Patients Referred for Suspected Chromosomal Abnormalities
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作者 Zhou Patricia Deh Malika Joane Astrid Dieth +6 位作者 Quidana Désirée Coulibaly Mimbra Olivia Annick Bouatinin Bi You Etienne Bazago Goulai Abou Joël Landry Okon Brahima Doukouré Mohenou Isidore Jean-Marie Diomandé Gnangoran Victor Yao open journal of genetics 2023年第2期97-103,共7页
Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a corresp... Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH). 展开更多
关键词 Diagnosis Reasons for Prescription KARYOTYPE Chromosomal Abnormalities
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Appropriate Means to Vulgarize the Human Cytogenetics
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作者 Zhou Patricia Deh Abou Joël Landry Okon +7 位作者 Gnaté François Montéomo Quidana Désirée Coulibaly Mimbra Olivia Annick Bouatinin Philippe Irenée Agossou Bi You Etienne Bazago Goulai Brahima Doukouré Gnangoran Victor Yao Mohenou Isidore Jean-Marie Diomandé open journal of genetics 2023年第4期125-133,共9页
Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the populati... Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health. 展开更多
关键词 Human Cytogenetics VULGARIZATION ACTIONS
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Genetic Screening of Halothane Gene on Selected Philippine Native Pig Herds
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作者 Sherwin Dapiawen Matias Maureen Basa Gajeton Ester Battad Flores open journal of genetics 2023年第3期105-113,共9页
The establishment of nucleus herds (NHs) of Native Pigs (NPs) at various R&D stations in the Philippines is currently being undertaken for food security and genetic conservation advocacy. Marker-assisted selection... The establishment of nucleus herds (NHs) of Native Pigs (NPs) at various R&D stations in the Philippines is currently being undertaken for food security and genetic conservation advocacy. Marker-assisted selection (MAS) is being utilized to identify individuals carrying favorable alleles of genes associated with production traits and screen out genetic defects (GD) for breeding purposes. Porcine Stress Syndrome (PSS) caused by a mutation in Halothane (HAL) gene is a GD frequently found in commercial breeds that when expressed, causes pale, soft, exudative (PSE) meat. PSE is inferior quality meat undesirable in the market causing economic losses to the swine industry. Thus, this study was conducted to screen the HAL gene through mutagenically separated-polymerase chain reaction (MSPCR) in selected NP herds and assessed its repeatability in local breeds. Results showed that out of 577 screened individuals, 543 (94.11%) were normal (NN), 0 (0%) were homozygous mutant (nn) and 34 (5.89%) were heterozygous carriers (Nn). Therefore, the optimized PSS screening protocol using MSPCR is also applicable to local breeds. As such, the availability of genetic tests for PSS could be useful in improving the Philippine NPs breeding selection and inhibiting or eliminating PSS mutant incidence within its nucleus herd. 展开更多
关键词 Halothane Gene Porcine Stress Syndrome Native Pig
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Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep 被引量:6
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作者 Hua Gong Huitong Zhou +2 位作者 Jolon M. Dyer Jeffrey E. Plowman Jon G. H. Hickford open journal of genetics 2011年第3期60-64,共5页
Keratin-associated proteins (KAPs) are a major structural component of hair and wool fibres, and play a critical role in determining the properties of the fibre. To date, forty functional high sulphur KAP genes from f... Keratin-associated proteins (KAPs) are a major structural component of hair and wool fibres, and play a critical role in determining the properties of the fibre. To date, forty functional high sulphur KAP genes from fourteen families have been identified in humans, but only six functional high sulphur KAP genes have been identified in sheep. This led us to search for the ovine KAP13-3 gene, a gene encoding a high sulphur KAP. In this study, the notional KAP13- 3 gene (KRTAP13-3) was amplified using primers designed based on a reported bovine KRTAP13-3 se- quence. PCR-single stranded conformational polymorphism (PCR-SSCP) analysis was used to screen amplicons derived from the gene in one hundred and forty seven New Zealand Romney crossbred sheep. Five unique banding patterns were revealed. Either one PCR-SSCP pattern (homozygous) or a combination of two patterns (heterozygous) was observed for each sheep. Sequencing of PCR amplicons representtative of different SSCP patterns revealed five different DNA sequences. The sequences derived from the amplicons showed a low homology to other known ovine KRTAPs, but had a high homology with previous reported KRTAP13-n sequences from human and cattle, with the closest homology being with bovine KRTAP13-3, suggesting the sequences represent the ovine KRTAP13-3 locus. Among the five allele sequences, four nucleotide substitutions were identified within the coding region. Of these substitutions, three were non-synonymous and would result in amino acid changes (p.Arg79Cys, p.Arg81Gln and p.Tyr130His). This variation in the KAP13-3 gene may affect gene expression, the structure and assembly of the protein, and consequently influence wool traits, if KAP13-3 is of importance to wool fibre structure. 展开更多
关键词 WOOL KAP13-3 GENE (KRTAP13-3) VARIATION PCR-SSCP
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Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS) 被引量:4
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作者 Arisa Ueki Iori Kisu +5 位作者 Kouji Banno Megumi Yanokura Kennta Masuda Yusuke Kobayashi Akira Hirasawa Daisuke Aoki open journal of genetics 2011年第3期65-69,共5页
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyposis in the gastrointestinal tract and melanin-pigmented macules on the skin mucosa. The responsibl... Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyposis in the gastrointestinal tract and melanin-pigmented macules on the skin mucosa. The responsible gene is a tumor suppressor, STK11/LKB1, on chromosome 19p13.3. PJS complicates with benign and malignant tumors in various organs. In gynecology, there has been a particular focus on complications of PJS with sex cord tumor with annular tubules (SCTAT) and minimal deviation adenocarcinoma (MDA), which are rare diseases. Approximately 36% of patients with SCTAT are complicated with PJS and these patients are characterized by multifocal, bilateral, small and benign lesions that develop into tumors with mucinous to serous ratios of 8:1. In addition, 10% of cases of MDA are complicated with PJS and mutation of STK11, the gene responsible for PJS, has a major effect on onset and prognosis. The disease concept of lobular endocervical glandular hyper-plasia (LEGH) has recently been proposed and LEGH is thought to be a potential premalignant lesion of MDA, however, the relationship between PJS and LEGH remains unclear. Several case reports of PJS patients complicated with gynecological tumors have been published and further studies are needed to determine the underlying 展开更多
关键词 GYNECOLOGIC TUMOR Minimal Deviation Adenocarcinoma PEUTZ-JEGHERS Syndrome Sex Cord TUMOR STK11/LKB1
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Physiological and biochemical characteristics associated with leaf retention in mulberry (<i>Morus</i>spp.) 被引量:4
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作者 Subramaniam Gandhi Doss Shyama Prasad Chakraborti +3 位作者 Soumen Chattopadhyay Nirvan Kumar Das Partha Dev Ghosh Kunjupillai Vijayan open journal of genetics 2011年第3期27-33,共7页
Mulberry leaf production plays a key role in the sustainability of silk industry as the silkworm Bom-byx mori can not survive on any other leaf. In fact, silkworm merely acts as an instrument to convert mulberry leaf ... Mulberry leaf production plays a key role in the sustainability of silk industry as the silkworm Bom-byx mori can not survive on any other leaf. In fact, silkworm merely acts as an instrument to convert mulberry leaf proteins into the silk proteins. In India, West Bengal is the second highest silk producing state but with varied climatic conditions and suffers to a great extent from non-availability of adequate quantity of quality leaf during the colder months. Delayed sprouting, slow growth rate and higher leaf fall are the major factors contributing this leaf scarcity. To overcome these problems, nine mulberry genotypes, developed through systematic breeding, were tested against the current popular variety for 3 consecutive years taking into account of their performance during the colder months. Annual leaf yield was highest in CT-44 (48 mt/ha/ year) followed by CT-11 (44 mt/ha/year). Leaf senescence was least in CT-44 (9.8%) followed by CT-11 (16.8%) while the check variety showed 20% leaf senescence. Significantly higher values were observed for net photosynthetic rate (Pn) (14.83 μ mol. m-2·s-1);physiological water use efficiency (pWUE) (1.16 8 mol CO2, mol–1 H2O);total soluble protein (TSP) (27.87 mg·g–1·fw);total soluble sugar (TSS) (39.74 mg·g–1 fw);nitrate reductase activity (NRA) (17.78 8 mol. NO2·g–1·fw·h–1) in CT-44. Correlations of these physiological and biochemical characters with leaf yield and leaf senescence (%) revealed highly significant positive correlations of leaf yield with Pn (0.536), TSP (0.674), NRA (0.610), pWUE (0.433), LAI (0.776) and negative correlations with leaf senescence (–0.239). TSS (0.292) and TSP (0.780) had positive association with NRA. Leaf senescence (%) had significant negative association with Pn (–0.755), TSP (–0.462), NRA (–0.438) and pWUE (–0.359). Path coefficient analysis revealed the direct effect of Pn (0.218), TSP (0.449) and LAI (0.730) on leaf yield. The study, therefore, indicated the possibility of using Pn, TSP, NRA and LAI for selecting varieties with higher leaf yield with low leaf fall during colder months. 展开更多
关键词 Cold Tolerance LEAF Senescence MULBERRY PHOTOSYNTHETIC Rate LAI
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Ultra-Fast Next Generation Human Genome Sequencing Data Processing Using DRAGEN<sup>TM</sup>Bio-IT Processor for Precision Medicine 被引量:3
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作者 Amit Goyal Hyuk Jung Kwon +5 位作者 Kichan Lee Reena Garg Seon Young Yun Yoon Hee Kim Sunghoon Lee Min Seob Lee open journal of genetics 2017年第1期9-19,共11页
Slow speed of the Next-Generation sequencing data analysis, compared to the latest high throughput sequencers such as HiSeq X system, using the current industry standard genome analysis pipeline, has been the major fa... Slow speed of the Next-Generation sequencing data analysis, compared to the latest high throughput sequencers such as HiSeq X system, using the current industry standard genome analysis pipeline, has been the major factor of data backlog which limits the real-time use of genomic data for precision medicine. This study demonstrates the DRAGEN Bio-IT Processor as a potential candidate to remove the “Big Data Bottleneck”. DRAGENTM accomplished the variant calling, for ~40× coverage WGS data in as low as ~30 minutes using a single command, achieving the over 50-fold data analysis speed while maintaining the similar or better variant calling accuracy than the standard GATK Best Practices workflow. This systematic comparison provides the faster and efficient NGS data analysis alternative to NGS-based healthcare industries and research institutes to meet the requirement for precision medicine based healthcare. 展开更多
关键词 NGS Data Analysis BWA-GATK DRAGEN Bio-IT PROCESSOR Genomics INDEL Mapping
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Microbial community diversity analysis of <i>Panax ginseng</i>rhizosphere and non-rhizosphere soil using randomly amplified polymorphic DNA method 被引量:3
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作者 Yong Li Yixin Ying +1 位作者 Dongyue Zhao Wanlong Ding open journal of genetics 2012年第2期95-102,共8页
DNA sequence diversities of soil microbial communities in rhizosphere and non-rhizosphere of 1 - 6 years Panax ginseng were evaluated by random amplified polymorphic DNA (RAPD). Total genomic DNA of soil samples were ... DNA sequence diversities of soil microbial communities in rhizosphere and non-rhizosphere of 1 - 6 years Panax ginseng were evaluated by random amplified polymorphic DNA (RAPD). Total genomic DNA of soil samples were amplified by twenty-four out of two hundred random primers. The products were separated in agarose gel, and 359 and 181 reliable fragments were generated, of which, 324 and 123 were polymorphic. The gene diversity index, Shannon’s information index, and similarity coefficient were calculated, and results showed that, diversity of soil microbial community at DNA level was present. Furthermore, with the increasing of P. ginseng growing at one site, deference on soil microbial community DNA sequence between rhizosphere and non-rhizosphere tend to be more and more significant. In addition, RAPD technique was proved to be an effective tool to assess the diversity of soil microbial communities. From results we deduced that, the ecological function that performed by soil microbes may changed following the change of microbial community in rhizospheric and non-rhizospheric soils, and finally broke the balance of soil nutrition and energy cycle, soil spatial structure, microbial ecology etc. 展开更多
关键词 P. GINSENG MICROBIAL Community Genetic Diversity RHIZOSPHERE Soil
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Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies 被引量:2
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作者 Seon Young Yun Hyuk Jung Kwon +6 位作者 Amit Goyal Katiyar P. Shashank Heesu Im Joungsu Joo Jin-Sik Bae Min Seob Lee Sunghoon Lee open journal of genetics 2018年第3期42-53,共12页
Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in o... Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in over 7910 clinical samples from South Korean population. Method: Pregnant women between 1st of November 2015 to 18th of February 2018, with obstetric clinical findings participated in the study. NIPT was performed based on masivelly parallel sequencing with 0.3× low coverage paired-end sequencing using cell-free DNA in maternal plasma. Further invasive prenatal testing was recommended for pregnant women with positive NIPT results. Results: Of the total 7910 participants, 7890 (99.75%) were tested for NIPT and the remaining 20 (0.25%) were below the Quality Control (QC) standards. T13, T18, XXX, XXY and XYY had 100% of sensitivity, specificity, positive predictive values (PPV) and accuracy. The overall sensitivity was 100% and specificity, PPV and accuracy of all chromosomal abnormalities with further validation were 99.92%, 94.25%, and, 99.92% respectively. Conclusion: Our NIPT results showed high positive predictive value for the detection of autosomal trisomies and sex chromosome aneuploidies in our sample cohort. 展开更多
关键词 CELL-FREE DNA TRISOMY Clinical Performance MOSAICISM CPM FETAL Abnormality NONINVASIVE Prenatal Testing NIPT
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Impact of obesity and Ala16Val MnSOD polymorphism interaction on lipid, inflammatory and oxidative blood biomarkers 被引量:2
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作者 Maria Fernanda Manica-Cattani Francine Carla Cadoná +5 位作者 Raul de Oliveira Tális da Silva Alencar Kolinski Machado Fernanda Barbisan Marta Maria Medeiros Frescura Duarte Ivana Beatrice Manica da Cruz open journal of genetics 2012年第4期202-209,共8页
Previous investigations suggest association between obesity and Ala16Val MnSOD gene polymorphism. The V allele produces enzyme which not catalyze the superoxide anion efficiently as occurs with A allele. As obesity is... Previous investigations suggest association between obesity and Ala16Val MnSOD gene polymorphism. The V allele produces enzyme which not catalyze the superoxide anion efficiently as occurs with A allele. As obesity is related to development of other metabolic disorders we performed a study that analyzed the effect of interaction between Ala16Val MnSOD polymorphism and obesity on lipid, oxidative and inflammatory biomarkers of adult subjects. The study enrolled 161 volunteers as categorized in six groups with different genotypes: Obeses with different genotypes (AAO, VVO and AVO) and nonobese (AANO, VVNO and AVNO). In general the group AANO presented lower values whereas VVO presented higher values of biomarkers analyzed. These results suggest that oxidative metabolism influenced by genetic status could to minimize or maximize the obesity effects on lipid, oxidative and inflammatory biomarkers that are also implicated in the genesis of important dysfunctions and diseases as atherosclerosis, diabetes 2 and cardiovascular morbidities. 展开更多
关键词 Ala16Val MNSOD POLYMORPHISM OBESITY OXIDATIVE Stress Inflammation OXIDIZED LDL Anti-Oxidized LDL Hs-PCR
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<i>Wolbachia</i>induces sexual isolation in <i>Drosophila melanogaster</i>and <i>Drosophila simulans</i> 被引量:2
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作者 Ialah Gazla Maria Carmen Carracedo open journal of genetics 2011年第2期18-26,共9页
Wolbachia are a group of intracellular bacteria, ma-ternally transmitted from infected females to their offspring, which affect a wide range of arthropods. Their presence is associated with Cytoplasmic Incompatibility... Wolbachia are a group of intracellular bacteria, ma-ternally transmitted from infected females to their offspring, which affect a wide range of arthropods. Their presence is associated with Cytoplasmic Incompatibility (CI) in crosses between infected males and uninfected females and between populations carrying different strains of Wolbachia. The negative influence of Wolbachia a infection on progeny fitness in incompatible crosses can be considered a first step in the appearance of reproductive isolation between infected and uninfected individuals. In this work, we examined the possibility of assortative mating in response to Wolbachia infection, a response that evolved as an incipient mechanism of sexual isolation in the species D. melanogaster and D. simulans. We found that the females of each species could detect the presence of the bacterium in the other sex and chose to mate with males who had the same state of infection, whereas the males randomly attempted to mate with both infected and uninfected females. Thus, Wolbachia may act as an additive factor influencing sexual isolation in Drosophila populations and may play a role in speciation events. 展开更多
关键词 WOLBACHIA Assortative MATING Sexual Isolation SPECIATION DROSOPHILA
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The Syhomy of the Genetic Code Is the Path to the Real Speech Characteristics of the Encoded Proteins 被引量:2
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作者 Peter P. Gariaev Ekaterina A. Leonova-Gariaeva open journal of genetics 2018年第2期23-33,共11页
The following is the theoretical and experimental analysis of the role of the third nucleotide in codons during protein biosynthesis. Its role is largely enhanced compared to the existing understanding. Third nucleoti... The following is the theoretical and experimental analysis of the role of the third nucleotide in codons during protein biosynthesis. Its role is largely enhanced compared to the existing understanding. Third nucleotide functionally and symmetrically divides codon families in 32 synonyms and 32 SYnonymous-HOMonymous hybrid codons—SYHOMs. Wherein, the syhoms function is to initiate nonlocal ribosome analysis of mRNA, representing real context in DNA language. Such analysis is a natural necessity for selection of one amino acid from two different amino acids, and between amino acids or a stop position, in situations when a ribosome interacts with syhom codons which have dual coding. This was theoretically substantiated earlier?[1] [2] [3]. Experimental work [4] confirmed this theory: It was demonstrated that two different amino acids, selenocysteine and cysteine, are coded by a single UGA-syhom-codon for Euplotes crassus infusoria. This result does not call into question the dogma of unambiguity of amino acids and stop position coding by the cells genome, but it requires amendments to the existing model of genetic coding. These amendments are based on an enhanced understanding of the special linguistic/semantic role of the third nucleotide in codons and on the acceptance of the idea of real, rather than metaphorical, textuality of protein genes (mRNA). Such comprehension of the speech-similarity of genes (mRNA) and the role that third nucleotide in codons plays in this, leads to a simple statement about the quasi-consciousness (biocomputing) of the protein-synthesizing-system and its ability to recognize the context (meaning) of mRNA to make the correct choice of amino acids and stops in a syhom situation, based on the meanings of gene texts (mRNA). 展开更多
关键词 GENETIC INFORMATION CODONS Syhoms Syhomy
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