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Genetic Analysis of Embryo Production Frequency in Wheat × Maize Cross
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作者 刘琨 宁波 +4 位作者 李宏生 李绍祥 顾坚 赵红 杨木军 《Agricultural Science & Technology》 CAS 2015年第9期1869-1872,共4页
A DH population derived from C49S-87/01Y1-1069 was used to study the inheritance of wheat haploid embryo production frequency(EPF) in wheat × maize cross with the mixed major gene and polygene inheritance model... A DH population derived from C49S-87/01Y1-1069 was used to study the inheritance of wheat haploid embryo production frequency(EPF) in wheat × maize cross with the mixed major gene and polygene inheritance model of quantitative traits. The results showed that the EPF of wheat × maize cross was controlled by two dominant epistatic genes and polygene with gene effects of 1.95 for the first major gene, 6.69 for the second one and 2.80 for the polygene. The inheritability of major genes was as high as 72.09%, suggesting that the differences in EPF among wheat materials were mainly influenced by genotype. However, non-genetic factors were still important, especially for wheat materials with low EPF. 展开更多
关键词 Wheat × maize cross Haploid embryo production frequency Double Haploid population Mixed major gene and polygene inheritance model
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Genetic insights in infectious diseases:Insights from a case report and implications for personalized medicine
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作者 Suryasnata Bhowmik Adrija Hajra Dhrubajyoti Bandyopadhyay 《World Journal of Clinical Cases》 2025年第13期1-6,共6页
The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as he... The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies. 展开更多
关键词 genetic profiling Infectious diseases Tuberculosis virulence pks1 gene genetic polymorphisms Personalized medicine
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Genetic Diversity and Allelic Frequency of Selected Thai and Exotic Rice Germplasm Using SSR Markers 被引量:2
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作者 Wanwarang PATHAICHINDACHOTE Natjaree PANYAWUT +2 位作者 Kannika SIKAEWTUNG Sujin PATARAPUWADOL Amorntip MUANGPROM 《Rice science》 SCIE CSCD 2019年第6期393-403,共11页
A collection of 167 Thai and exotic rice accessions was subjected for evaluation of genetic diversity and assessment of relationship by simple sequence repeat (SSR) markers. Among a total of 49 SSR markers, 13 markers... A collection of 167 Thai and exotic rice accessions was subjected for evaluation of genetic diversity and assessment of relationship by simple sequence repeat (SSR) markers. Among a total of 49 SSR markers, 13 markers distributing over 12 rice chromosomes showed clear polymorphic band patterns, and they were selected for genetic assessment. A total of 110 alleles were detected with an average of 8.46 alleles per locus. The averages of gene diversity, heterozygosity and polymorphic information content were 0.59, 0.02 and 0.56, respectively. The unweighted-pair group method with arithmetic averages (UPGMA) clustering analysis was performed for genetic distance, and phylogenetic tree was constructed. The result showed that this rice collection was divided into two major groups, classified as japonica and indica subspecies. Within the japonica group, temperate japonica and tropical japonica subgroups can be clearly separated. Three-dimensional principal component analysis projection and model-based population structure analysis showed consistent clustering results with two major groups of UPGMA analysis, supporting the classification of japonica and indica subspecies. The indica allelic frequency was also investigated to provide an indicative guide for breeders to overcome the practical problems on sterility of inter-subspecies hybrid offspring. This rice collection and information obtained in this study will be useful for rice breeding programs. 展开更多
关键词 rice genetic diversity INDICA JAPONICA allelic frequency simple sequence REPEAT
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Optimization of Bearing Locations for Maximizing First Mode Natural Frequency of Motorized Spindle-Bearing Systems Using a Genetic Algorithm 被引量:4
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作者 Chi-Wei Lin 《Applied Mathematics》 2014年第14期2137-2152,共16页
This paper has developed a genetic algorithm (GA) optimization approach to search for the optimal locations to install bearings on the motorized spindle shaft to maximize its first-mode natural frequency (FMNF). First... This paper has developed a genetic algorithm (GA) optimization approach to search for the optimal locations to install bearings on the motorized spindle shaft to maximize its first-mode natural frequency (FMNF). First, a finite element method (FEM) dynamic model of the spindle-bearing system is formulated, and by solving the eigenvalue problem derived from the equations of motion, the natural frequencies of the spindle system can be acquired. Next, the mathematical model is built, which includes the objective function to maximize FMNF and the constraints to limit the locations of the bearings with respect to the geometrical boundaries of the segments they located and the spacings between adjacent bearings. Then, the Sequential Decoding Process (SDP) GA is designed to accommodate the dependent characteristics of the constraints in the mathematical model. To verify the proposed SDP-GA optimization approach, a four-bearing installation optimazation problem of an illustrative spindle system is investigated. The results show that the SDP-GA provides well convergence for the optimization searching process. By applying design of experiments and analysis of variance, the optimal values of GA parameters are determined under a certain number restriction in executing the eigenvalue calculation subroutine. A linear regression equation is derived also to estimate necessary calculation efforts with respect to the specific quality of the optimization solution. From the results of this illustrative example, we can conclude that the proposed SDP-GA optimization approach is effective and efficient. 展开更多
关键词 Optimal DESIGN Motorized SPINDLE System DESIGN Finite Element Method genetic Algorithm FIRST MODE Natural frequency
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Frequency selective surface structure optimized by genetic algorithm 被引量:1
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作者 卢俊 汪剑波 孙贯成 《Chinese Physics B》 SCIE EI CAS CSCD 2009年第4期1598-1600,共3页
Frequency selective surface (FSS) is a two-dimensional periodic structure which has promiaent characteristics of bandpass or bandbloek when interacting with electromagnetic waves. In this paper, the thickness, the d... Frequency selective surface (FSS) is a two-dimensional periodic structure which has promiaent characteristics of bandpass or bandbloek when interacting with electromagnetic waves. In this paper, the thickness, the dielectric constant, the element graph and the arrangement periodicity of an FSS medium are investigated by Genetic Algorithm (GA) when an electromagnetic wave is incident on the FSS at a wide angle, and an optimized FSS structure and transmission characteristics are obtained. The results show that the optimized structure has better stability in relation to incident angle of electromagnetic wave and preserves the stability of centre frequency even at an incident angle as large as 80°, thereby laying the foundation for the application of FSS to curved surfaces at wide angles. 展开更多
关键词 frequency selective surface (FSS) genetic algorithm (GA) OPTIMIZATION
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Frequency modulated weak signal detection based on stochastic resonance and genetic algorithm 被引量:17
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作者 XING Hongyan LU Chunxia ZHANG Qiang 《Instrumentation》 2016年第1期41-49,共9页
Stochastic resonance system is subject to the restriction of small frequency parameter in weak signal detection,in order to solve this problem,a frequency modulated weak signal detection method based on stochastic res... Stochastic resonance system is subject to the restriction of small frequency parameter in weak signal detection,in order to solve this problem,a frequency modulated weak signal detection method based on stochastic resonance and genetic algorithm is presented in this paper. The frequency limit of stochastic resonance is eliminated by introducing carrier signal,which is multiplied with the measured signal to be injected in the stochastic resonance system,meanwhile,using genetic algorithm to optimize the carrier signal frequency,which determine the generated difference-frequency signal in the lowfrequency range,so as to achieve the stochastic resonance weak signal detection. Results showthat the proposed method is feasible and effective,which can significantly improve the output SNR of stochastic resonance,in addition,the system has the better self-adaptability,according to the operation result and output phenomenon,the unknown frequency of the signal to be measured can be obtained,so as to realize the weak signal detection of arbitrary frequency. 展开更多
关键词 stochastic RESONANCE two-dimension DUFFING OSCILLATOR frequency MODULATED genetIC algorithm
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Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants
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作者 Shuyi Chen Jing Gu +2 位作者 Kaichun Wu Xiaodi Zhao Yuanyuan Lu 《Cancer Biology & Medicine》 SCIE CAS CSCD 2024年第6期473-483,共11页
Targeted therapy is crucial for advanced colorectal cancer(CRC) positive for genetic drivers. With advances in deep sequencing technology and new targeted drugs, existing standard molecular pathological detection syst... Targeted therapy is crucial for advanced colorectal cancer(CRC) positive for genetic drivers. With advances in deep sequencing technology and new targeted drugs, existing standard molecular pathological detection systems and therapeutic strategies can no longer meet the requirements for careful management of patients with advanced CRC. Thus, rare genetic variations require diagnosis and targeted therapy in clinical practice. Rare gene mutations, amplifications, and rearrangements are usually associated with poor prognosis and poor response to conventional therapy. This review summarizes the clinical diagnosis and treatment of rare genetic variations, in genes including erb-b2 receptor tyrosine kinase 2(ERBB2), B-Raf proto-oncogene, serine/threonine kinase(BRAF), ALK receptor tyrosine kinase/ROS proto-oncogene 1, receptor tyrosine kinase(ALK/ROS1), neurotrophic receptor tyrosine kinases(NTRKs), ret proto-oncogene(RET), fibroblast growth factor receptor 2(FGFR2), and epidermal growth factor receptor(EGFR), to enhance understanding and identify more accurate personalized treatments for patients with rare genetic variations. 展开更多
关键词 genetic variation gene mutation gene amplification gene rearrangement targeted therapy
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Frequency of primary iron overload and HFE gene mutations (C282Y,H63D and S65C) in chronic liver disease patients in north India 被引量:5
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作者 Barjinderjit Kaur Dhillon Reena Das +5 位作者 Gurjeewan Garewal Yogesh Chawla RK Dhiman Ashim Das Ajay Duseja GR Chandak 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第21期2956-2959,共4页
AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron ov... AIM:To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y,H63D,and S65C) in patients with chronic liver disorders (CLD) and controls. METHODS:To identify patients with iron overload (transferrin saturation > 45% in females and > 50% in males and serum ferritin > 1000 ng/mL) we evaluated 236 patients with CLD,including 59 with non-alcoholic steatohepatitis (NASH),22 with alcoholic liver disease (ALD),19 of cirrhosis due to viruses (HBV,HCV),and 136 with cryptogenic cirrhosis. Mutations of the HFE gene were analyzed by PCR-RE. hundred controls were screened for iron status and the mutations. RESULTS:Seventeen patients with CLD showed evidence of iron overload. Fifteen cases of iron overload had cryptogenic cirrhosis and two had ALD. None of the controls showed iron overload. We did not find any individual with 282Y or 65C either in the cases or in the controls. The prevalence of H63D heterozygosity was 12% in normal individuals,14.8% in 236 patients (16.9% in NASH,13.6% in ALD,26.3% in viral and 12.5% in cryptogenic cirrhosis) and the overall prevalence was 13.98%. Only two of the 17 patients with primary iron overload were heterozygous for H63D. One patient with NASH and one normal individual who were homozygous for H63D showed no iron overload.CONCLUSION:Primary iron overload in Indians is nonHFE type,which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes. 展开更多
关键词 HFE gene mutations C282Y H63D S65C Population genetics
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Epidemiological Surveillance: Genetic Diversity of Rotavirus Group A in the Pearl River Delta, Guangdong, China in 2019
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作者 JIANG Jie Ying LIANG Dan +9 位作者 WANG Li XIAO Yun LIANG Yu Feng KE Bi Xia SU Juan XIAO Hong WANG Tao ZOU Min LI Hong Jian KE Chang Wen 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第3期278-293,共16页
Objective This study aimed to understand the epidemic status and phylogenetic relationships of rotavirus group A(RVA)in the Pearl River Delta region of Guangdong Province,China.Methods This study included individuals ... Objective This study aimed to understand the epidemic status and phylogenetic relationships of rotavirus group A(RVA)in the Pearl River Delta region of Guangdong Province,China.Methods This study included individuals aged 28 days–85 years.A total of 706 stool samples from patients with acute gastroenteritis collected between January 2019 and January 2020 were analyzed for 17 causative pathogens,including RVA,using a Gastrointestinal Pathogen Panel,followed by genotyping,virus isolation,and complete sequencing to assess the genetic diversity of RVA.Results The overall RVA infection rate was 14.59%(103/706),with an irregular epidemiological pattern.The proportion of co-infection with RVA and other pathogens was 39.81%(41/103).Acute gastroenteritis is highly prevalent in young children aged 0–1 year,and RVA is the key pathogen circulating in patients 6–10 months of age with diarrhea.G9P[8](58.25%,60/103)was found to be the predominant genotype in the RVA strains,and the 41 RVA-positive strains that were successfully sequenced belonged to three different RVA genotypes in the phylogenetic analysis.Recombination analysis showed that gene reassortment events,selection pressure,codon usage bias,gene polymorphism,and post-translational modifications(PTMs)occurred in the G9P[8]and G3P[8]strains.Conclusion This study provides molecular evidence of RVA prevalence in the Pearl River Delta region of China,further enriching the existing information on its genetics and evolutionary characteristics and suggesting the emergence of genetic diversity.Strengthening the surveillance of genotypic changes and gene reassortment in RVA strains is essential for further research and a better understanding of strain variations for further vaccine development. 展开更多
关键词 Infectious diarrheal disease ROTAVIRUS Phylogenetic analysis gene rearrangement Codon usage bias genetic diversity
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Mobile genetic elements facilitate the transmission of antibiotic resistance genes in multidrug-resistant Enterobacteriaceae from duck farms
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作者 Xin’er Zheng Dingting Xu +5 位作者 Jinchang Yan Min Qian Peng Wang Davood Zaeim Jianzhong Han Daofeng Qu 《Food Science and Human Wellness》 SCIE CSCD 2024年第2期729-735,共7页
Multidrug-resistant(MDR)Enterobacteriaceae critically threaten duck farming and public health.The phenotypes,genotypes,and associated mobile genetic elements(MGEs)of MDR Enterobacteriaceae isolated from 6 duck farms i... Multidrug-resistant(MDR)Enterobacteriaceae critically threaten duck farming and public health.The phenotypes,genotypes,and associated mobile genetic elements(MGEs)of MDR Enterobacteriaceae isolated from 6 duck farms in Zhejiang Province,China,were investigated.A total of 215 isolates were identified as Escherichia coli(64.65%),Klebsiella pneumoniae(12.09%),Proteus mirabilis(10.23%),Salmonella(8.84%),and Enterobacter cloacae(4.19%).Meanwhile,all isolates were resistant to at least two antibiotics.Most isolates carried tet(A)(85.12%),blaTEM(78.60%)and sul1(67.44%)resistance genes.Gene co-occurrence analysis showed that the resistance genes were associated with IS26 and integrons.A conjugative IncFII plasmid pSDM004 containing all the above MGEs was detected in Proteus mirabilis isolate SDM004.This isolate was resistant to 18 antibiotics and carried the blaNDM-5 gene.MGEs,especially plasmids,are the primary antibiotic resistance gene transmission route in duck farms.These findings provide a theoretical basis for the rational use of antibiotics in farms which are substantial for evaluating public health and food safety. 展开更多
关键词 Duck farm Mobile genetic element Antibiotic resistance gene PLASMID Food safety
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A Theory of Bio-Quantum Genetics
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作者 Jianzhong Zhao 《Journal of Quantum Information Science》 CAS 2024年第1期15-27,共13页
The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics... The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large. 展开更多
关键词 Bio-Quantum genetics Quantum Mechanics geneS Soft genes Quantum Mechanism of Mendel Plant Heredity Quantum Mechanism of Family Inheritance
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Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
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作者 Jin-Ying You Ling-Yun Xiong +3 位作者 Min-Fang Wu Jun-Song Fan Qi-Hua Fu Ming-Hua Qiu 《World Journal of Clinical Pediatrics》 2024年第4期5-14,共10页
BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation wit... BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns. 展开更多
关键词 HYPERBILIRUBINEMIA gene mutation NEONATES genetic polymorphisms Inherited diseases
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Rapid Prototype Development Approach for Genetic Programming
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作者 Pei He Lei Zhang 《Journal of Computer and Communications》 2024年第2期67-79,共13页
Genetic Programming (GP) is an important approach to deal with complex problem analysis and modeling, and has been applied in a wide range of areas. The development of GP involves various aspects, including design of ... Genetic Programming (GP) is an important approach to deal with complex problem analysis and modeling, and has been applied in a wide range of areas. The development of GP involves various aspects, including design of genetic operators, evolutionary controls and implementations of heuristic strategy, evaluations and other mechanisms. When designing genetic operators, it is necessary to consider the possible limitations of encoding methods of individuals. And when selecting evolutionary control strategies, it is also necessary to balance search efficiency and diversity based on representation characteristics as well as the problem itself. More importantly, all of these matters, among others, have to be implemented through tedious coding work. Therefore, GP development is both complex and time-consuming. To overcome some of these difficulties that hinder the enhancement of GP development efficiency, we explore the feasibility of mutual assistance among GP variants, and then propose a rapid GP prototyping development method based on πGrammatical Evolution (πGE). It is demonstrated through regression analysis experiments that not only is this method beneficial for the GP developers to get rid of some tedious implementations, but also enables them to concentrate on the essence of the referred problem, such as individual representation, decoding means and evaluation. Additionally, it provides new insights into the roles of individual delineations in phenotypes and semantic research of individuals. 展开更多
关键词 genetic Programming Grammatical Evolution gene Expression Programming Regression Analysis Mathematical Modeling Rapid Prototype Development
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Estimated Genetic Variance Explained by Single Nucleotide Polymorphisms of Different Minor Allele Frequencies for Carcass Traits in Japanese Black Cattle
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作者 Shinichiro Ogawa Hirokazu Matsuda +3 位作者 Yukio Taniguchi Toshio Watanabe Yoshikazu Sugimoto Hiroaki Iwaisaki 《Journal of Biosciences and Medicines》 2016年第5期89-97,共9页
Japanese Black cattle are a beef breed and well known to excel in carcass quality, but the details of genetic architectures for carcass traits in beef breeds including this breed are still poorly understood. The objec... Japanese Black cattle are a beef breed and well known to excel in carcass quality, but the details of genetic architectures for carcass traits in beef breeds including this breed are still poorly understood. The objective of this study was to estimate the degree of additive genetic variance explained by single nucleotide polymorphism (SNP) marker groups with different levels of minor allele frequency (MAF) for marbling score and carcass weight in Japanese Black cattle. Phenotypic data on 872 fattened steers with the genotype information about 40,000 autosomal SNPs were analyzed using two different statistical models: one considering only SNPs selected based on MAF (model 1) and the other also considering all remaining SNPs as the different term (model 2). All available SNPs were classified into 10 groups based on their MAFs. For both traits, the estimated proportions of additive genetic variance explained by SNPs selected based on their MAFs using model 1 were always higher than the estimated ones using model 2. For carcass weight, relatively high values of the proportion of the additive genetic variance were estimated when using SNPs with MAFs which were in the ranges of 0.20 to 0.25 and 0.25 to 0.30, which may be partly due to the three previously-reported quantitative trait loci candidate regions. The results could have provided some information on the genetic architecture for the carcass traits in Japanese Black cattle, although its validity may be limited, mainly due to the sample size and the use of simpler statistical models in this study. 展开更多
关键词 Additive genetic Variance Carcass Trait Japanese Black Cattle Minor Allele frequency Single Nucleotide Polymorphism
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The survey of the frequency of gene of ABO blood group in Dali
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《中国输血杂志》 CAS CSCD 2001年第S1期363-,共1页
关键词 ABO The survey of the frequency of gene of ABO blood group in Dali gene
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Changes in plasma calcitonin gene-related peptide and serum neuron specific enolase in rats with acute cerebral ischemia after low-frequency electrical stimulation with different waveforms and intensities 被引量:1
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作者 Qiang Gao Yonghong Yang Shasha Li Jing He Chengqi He 《Neural Regeneration Research》 SCIE CAS CSCD 2011年第28期2217-2221,共5页
Following acute cerebral ischemia in rats, plasma calcitonin gene-related peptide decreased and the level of serum neuron specific enolase and the volume of the infarction increased. Square-wave and triangular-wave el... Following acute cerebral ischemia in rats, plasma calcitonin gene-related peptide decreased and the level of serum neuron specific enolase and the volume of the infarction increased. Square-wave and triangular-wave electrical stimulation with low or high intensities could increase the plasma calcitonin gene-related peptide, decrease the serum neuron specific enolase and reduce the infarction volume in the brain in rats with cerebral ischemia. There was no significant difference between different wave forms and intensities. The experimental findings indicate that low-frequency electrical stimulation with varying waveforms and intensities can treat acute cerebral ischemia in rats. 展开更多
关键词 low-frequency electrical stimulation acute cerebral ischemia calcitonin gene-related peptide neuron specific enolase infarction volume
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Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report
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作者 Yan Yang Zhi-Wei Guan Qin-Feng Li 《World Journal of Clinical Cases》 2025年第11期60-65,共6页
BACKGROUND Dystrophic epidermolysis bullosa is characterized by fragile ulcerations of the skin caused by mutations in specific genes.However,genetic typing of this con-dition is rare.CASE SUMMARY An 11-year-old femal... BACKGROUND Dystrophic epidermolysis bullosa is characterized by fragile ulcerations of the skin caused by mutations in specific genes.However,genetic typing of this con-dition is rare.CASE SUMMARY An 11-year-old female suffered from recurrent fever,visible ulcerations of the entire skin,and severe malnutrition.Genetic testing revealed a frameshift mu-tation in the coding region 4047 of the 35th intron region of COL7A1,and she was diagnosed as malnutrition-type epidermolysis bullosa.Drug therapy(immu-noglobulin,fresh frozen plasma),topical therapy(silver ion dressing),fever redu-ction,cough relief,and promotion of gastrointestinal peristalsis are mainly used for respiratory and gastrointestinal complications.The patient’s condition impro-ved after treatment.CONCLUSION Dystrophic epidermolysis bullosa caused by a new framework shift mutation in COL7A1 should be taken seriously. 展开更多
关键词 Dystrophic epidermolysis bullosa Frameshift mutation genetic testing COL7A1 gene genetic typing IMMUNOGLOBULIN Case report
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Genetic Structure of the Oriental River Prawn (Macrobrachium nipponense) from the Yangtze and Lancang Rivers, Inferred from COI Gene Sequence 被引量:33
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作者 杨频 张浩 +4 位作者 陈立侨 叶金云 禹娜 顾志敏 宋大祥 《Zoological Research》 CAS CSCD 北大核心 2007年第2期113-118,共6页
This study analyzed nueleotide sequences from the mitochondrial eytochrome oxidase submit (COI) gene region (450 bp) to investigate the genetic structure of the oriental river prawn ( Macrobrachium nipponense ) ... This study analyzed nueleotide sequences from the mitochondrial eytochrome oxidase submit (COI) gene region (450 bp) to investigate the genetic structure of the oriental river prawn ( Macrobrachium nipponense ) among nine populations from the Yangtze and Lancang Rivers. A total of 79 individuals were collected for this work. Eighty-nine nucleotides were found to be variable, resulting in 46 haplotypes. Among the nine populations, the population from Kunming shows the greatest level of variability (h = 1.000, π = 0.028), whereas the population from Cbongqing exhibits the lowest level of variability (h = 0.700,π = 0.008). Analysis of molecular variance suggested that of the total genetic diversity, 9.66% was attributable to inter-population diversity and the remainder (90.34%) to differences within populations. A molecular phylogenetic tree constructed using the Neighbor-joining (N J) method showed that the 46 haplotypes were assigned to two clades associated with geographic regions. These results provide basic information for the conservation and sustainable exploitation of this species. 展开更多
关键词 Macrobrachium nipponense COI gene genetic structure genetic variation HAPLOTYPE
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Population Genetic Structure in Apricot (Prunus armeniaca L.) Cultivars Revealed by Fluorescent-AFLP Markers in Southern Xinjiang,China 被引量:13
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作者 苑兆和 陈学森 +3 位作者 何天明 冯建荣 冯涛 张春雨 《Journal of Genetics and Genomics》 SCIE CAS CSCD 北大核心 2007年第11期1037-1047,共11页
Population-wide genetic structure was studied using fluorescent-AFLP markers on 85 apricot (Prunus armeniaca L.) cultivars collected from Kuche, Kashi, Hetian in the Tarim Basin, southern Xinjiang Uygur Autonomous R... Population-wide genetic structure was studied using fluorescent-AFLP markers on 85 apricot (Prunus armeniaca L.) cultivars collected from Kuche, Kashi, Hetian in the Tarim Basin, southern Xinjiang Uygur Autonomous Region of China. The purpose of this study was to determine the genetic structure and genotypic diversity among the different eco-geographical populations. Based on the results from this study, 8 pairs of fluorescent-AFLP primers showed clear electrophoregram and high polymorphism amongst the 64 pairs of EcoR Ⅰ/Mse Ⅰ (Mse Ⅰ - a FAM fluorescent marked primer) primers screened. There was a significant polymorphic difference for the same primer pair in different populations and for the same population with different primer pairs. The percentage of polymorphic loci (P) at species level was higher than Kuche, Hetian, Kashi population levels, respectively. The Nei's gene diversity index (H) and Shannon's information index (I) at species level were higher than those of Kuche, Hetian, and Kashi at population level, respectively. H and I of Kuche population were the highest amongst the three populations. Apricot population genetic diversity was found mainly within the population, Genetic differentiation coefficient between populations (GST) was 0.0882. Gene flow Nm between the populations was 5.1689. Population genetic identity was between 0.9772-0.9811 and genetic distance was between 0.0191-0.0232. These results further indicated that the similarity between populations was higher and the genetic distance between populations was smaller. The UPGMA cluster analysis indicates that the geographical populations at Kuche, Kashi, Hetian were relatively independent Mendelian populations. Concurrently, there was also partial gene exchange between the populations. All the evidences indicated that the genetic diversity in Kuche population was the highest, suggesting that it could be a transition population from wild apricot to cultivated apricot. There were abundant genetic diversities in apricot cultivar populations in southern Xinjiang, China, which provide promising germplasm for further breeding and theoretical basis for biodiversity conservation and utilization for apricot population in this area. 展开更多
关键词 Prunus armeniaca POPULATION AFLP marker genetic structure' gene flow
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Genetic Analysis of Cultured and Wild Populations of Mytilus coruscus Based on Mitochondrial DNA 被引量:18
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作者 沈玉帮 李家乐 冯冰冰 《Zoological Research》 CAS CSCD 北大核心 2009年第3期240-246,共7页
DNA sequences from the mitochondrial gene cytochrome oxidase subunit I (mtDNA CO I) were used to estimate the genetic variability in two wild populations and two cultured populations of the hard shelled mussel, Myti... DNA sequences from the mitochondrial gene cytochrome oxidase subunit I (mtDNA CO I) were used to estimate the genetic variability in two wild populations and two cultured populations of the hard shelled mussel, Mytilus coruscus. Thirty haplotypes were identified in the four populations. The cultured populations exhibited a lower number of haplotypes and genetic diversity than those of the wild populations, suggesting that a small number of effective founding breeders contributed to the genetic variation of the cultured populations. No significant differentiation was observed between the cultured population and local wild population, implying that persistent gene flow occurred in these populations. This genetic survey is intended as a baseline for future genetic monitoring of M. coruseus aquaculture stocks. 展开更多
关键词 Mytilus coruscus Population differentiation genetic diversity mtDNA COI gene
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