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Relationship between genotype and phenotype of flagellin C in Salmonella 被引量:2
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作者 Wan-Sheng Ji~1 Jia-Lu Hu~1 Jun-Wen Qiu~1 Bo-Rong Pan~1 Dao-Rong Peng~2 Bing-Long Shi~1 Shao-Juan Zhou~1 Kai-Chun Wu~1 Dai-Ming Fan~1 1 Chinese PLA Institute of Digestive Diseases2 Department of Bacteriology,Xijing Hospital,Fourth Military Medical University,Xi’an 710032,Shaanxi Province,China 《World Journal of Gastroenterology》 SCIE CAS CSCD 2001年第6期864-867,共4页
AIM: To discover the relationship between the genotype and antigen serotype of flagellin C among Salmonella strains. METHODS: Fragment of Salmonella flagellin C in plasmid pLS408 was cloned, sequenced and compared wit... AIM: To discover the relationship between the genotype and antigen serotype of flagellin C among Salmonella strains. METHODS: Fragment of Salmonella flagellin C in plasmid pLS408 was cloned, sequenced and compared with the corresponding sequence in other strains. Salmonella strains including two typhi strains, one paratyphoid strain, one enteritidis and one typhimurium strain were isolated from outpatients. Genome DNA was purified respectively from these clinical isolates, then the corresponding flagellin C fragment was amplified by polymerase chain reaction,and the amplification products were analyzed by agarose gel electrophoresis. RESULTS: The cloned fragment includes 582 nucleotides encoding the variable region and partial conservative region of Salmonella flagellin C in plasmid pLS408. With comparison to the corresponding sequences reported previously, there is only a little difference from other strains with the same flagellar serotype in both nucleotide and amino acid level. Specific PCR products were amplified in Salmonella strains with flagellar serotype H-1-d including S. muenchen, typhi and typhimurium, but not in S. paratyphoid C or S. enteritidis strains. CONCLUSION: In this experiment, the specificity of nucleotide sequence could be found in flagellin C central variable regions as it exists in flagellar serotypes in Salmonella. It may be helpful to developing a rapid, sensitive, accurate and PCR-based method to detect Salmonella strains with serotype H-1-d. 展开更多
关键词 Amino Acid Sequence Base Sequence FLAGELLIN genotype Molecular Sequence Data phenotype Protein Isoforms SALMONELLA Species Specificity
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Clinical Characteristics of 5 Chinese LQTS Families and Phenotype-genotype Correlation
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作者 廉姜芳 崔长琮 +2 位作者 薛小临 黄辰 崔翰斌 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2004年第3期208-211,共4页
Summary: In order to assess the clinical manifestations and electrocardiogram (ECG) characteristics of Chinese long QT syndrome (LQTS) patients and describe the phenotype-genotype correlation, the subjects from 5 cong... Summary: In order to assess the clinical manifestations and electrocardiogram (ECG) characteristics of Chinese long QT syndrome (LQTS) patients and describe the phenotype-genotype correlation, the subjects from 5 congenital LQTS families underwent clinical detailed examination including resting body surface ECG. QT interval and transmural dispersion of repolarization (TDR) were manually measured. Five families were genotyped by linkage analysis (polymerase chain reacting-short tandem repeat, PCR-STR). The phenotype-genotype correlation was analyzed. Four families were LQT2, 1 family was LQT3. Twenty-eight gene carriers were (14 males and 14 females) identified from 5 families. The mean QTc and TDRc were 0.56±0.04 s (range 0.42 to 0.63) and 0.16±0.04 s (range 0.09 to 0.24) respectively. 35.7 % (10/28) had normal to borderline QTc (≤ 0.460 s). There was significant difference in QTc and TDRc between the patients with symptomatic LQTS and those with asymptomatic LQTS, and there was significant difference in TDRc between the asymptomatic patients and normal people also. A history of cardiac events was present in 50 % (14/28), including 9 with syncope, 2 with sudden death (SD) and occurred in the absence of β-blocker. Three SDs occurred prior to the diagnosis of LQTS and had no ECG record. Two out of 5 SDs (40 %) occurred as the first symptom. Typical LQT2 T wave pattern were found in 40 % (6/15) of all affected members. The appearing-normal T wave was found in one LQT3 family. Low penetrance of QTc and symptoms resulted in diagnostic challenge. ECG patterns and repolarization parameters may be used to predict the genotype in most families. Genetic test is very important for identification of gene carriers. 展开更多
关键词 long QT syndrome clinical characteristics phenotype-genotype correlation
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Associations between NOD2/CARD15 genotype andphenotype in Crohn’s disease-Are we there yet? 被引量:4
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作者 Graham Radford-Smith Nirmala Pandeya 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第44期7097-7103,共7页
There have been multiple NOD2/CARD15 genotype- phenotype analyses undertaken in patients with Crohn’s disease since the gene’s discovery in 2001. This review focuses on the major published series based upon their si... There have been multiple NOD2/CARD15 genotype- phenotype analyses undertaken in patients with Crohn’s disease since the gene’s discovery in 2001. This review focuses on the major published series based upon their size and on the presence of specific clinical and genetic information provided in the published material from 2001 to 2005. Twelve studies provided raw data to carry out comparisons of disease location while ten studies included analysis of NOD2/CARD15 genotypes. NOD2/CARD15 variant frequency in ileal disease did not differ significantly among studies, whereas a comparison of disease location demonstrated highly significant differences among studies. Meta-analysis confirmed significant associations between NOD2/CARD15 variants and both ileal and ileocolonic disease locations, and with both stricturing and penetrating forms of disease behavior. This review underlines the significant phenotypic differences that exist among populations, including similar ethnic groups, and has demonstrated the need for further studies of patients with long-term “inflammatory” Crohn’s disease. 展开更多
关键词 Crohn's disease Phenotypic heterogeneity genotype Inter-observer agreement Disease location Disease behavior
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Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families
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作者 Xiao-lu HAO Ran CHEN +6 位作者 Wei LIU Bao-ke HOU Ling-hui QU Zhao-hui LI Da-jiang WANG Xin JIN Hou-bin HUANG 《Current Medical Science》 SCIE CAS 2024年第4期820-826,共7页
Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were admi... Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families. 展开更多
关键词 ANIRIDIA PAX6 mutation haplotype deficiency phenotype genotype
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Comparing the Genotype and Drug Susceptibilities between Mycobacterium avium and Mycobacterium intracellulare in China 被引量:5
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作者 ZHENG Hui Wen PANG Yu +2 位作者 HE Guang Xue SONG Yuan Yuan ZHAO Yan Lin 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2017年第7期517-525,共9页
Objective Mycobacterium avium (M. avium) and Mycobacterium intracellulare (M. intracellulare) are the major causative agents of nontuberculous mycobacteria (NTM)-related pulmonary infections. However, little is ... Objective Mycobacterium avium (M. avium) and Mycobacterium intracellulare (M. intracellulare) are the major causative agents of nontuberculous mycobacteria (NTM)-related pulmonary infections. However, little is known about the differences in drug susceptibility profiles between these two species. Methods A total of 393 NTM isolates were collected from Shanghai Pulmonary Disease Hospital. Sequencing of partial genes was performed to identify the strains at species level. The minimum inhibitory concentration (MIC) was used to evaluate the drug susceptibility against 20 antimicrobial agents. Variable number of tandem repeat (VNTR) typing was conducted to genotype these two species. Results A total of 173 (44.0%) M. avium complex (MAC) isolates were identified, including 41 (10.4%) M. avium isolates and 132 (33.6%) M. intracellulare isolates. Clarithromycin and amikacin were the two most effective agents against MAC isolates. The Hunter-Gaston Discriminatory Index (HGDI) values for VNTR typing of M. avium and M. intracellulare isolates were 0.993 and 0.995, respectively. Levofloxacin resistance was more common among the unclustered strains than among the clustered strains of M. intracellulare. Conclusion M. intrecellulare was the most common NTM species in China. Clarithromycin and amikacin had high antimicrobial activities against MAC. VNTR typing of MAC isolates revealed a high discriminatory power. Levofloxacin resistance was associated with unclustered strains of M. intracellulare. 展开更多
关键词 Nontuberculous mycobacterium phenotype genotype SUSCEPTIBILITY Resistance
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Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy 被引量:3
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作者 Yan LONG Yang-shun GU +3 位作者 Wei HAN Xiu-yi LI Ping YU Ming QI 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2011年第4期287-292,共6页
In this paper,we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal dystrophy.Altogether,five pedigrees and ten unrelated ... In this paper,we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal dystrophy.Altogether,five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited.Peripheral venous DNA was extracted,and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP).Direct DNA sequencing was used to analyze the mutations of the TGFBI gene.In our study,thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I),Avellino corneal dystrophy (ACD),lattice corneal dystrophy type I (LCD I),and lattice corneal dystrophy type ⅢA (LCD IIIA),and in total,seven disease-causing mutations,namely R555W,A546D,A546T,and T538P mutations in exon 12,R124H and R124C mutations in exon 4,and P501T mutation in exon 11,were identified,while four polymorphisms of V327V,L472L,F540F,and 1665-1666insC were screened in exons 8,11,and 12.The study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four TGFBI gene-linked corneal dystrophies. 展开更多
关键词 TGFBI gene Corneal dystrophy genotype phenotype MUTATION
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Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis 被引量:11
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作者 Satoshi Yamashita Yukio Ando 《Translational Neurodegeneration》 SCIE CAS 2015年第1期92-104,共13页
Amyotrophic lateral sclerosis(ALS)is the most common adult-onset motor neuron disease.It is characterized by neuronal loss and degeneration of the upper motor neurons(UMNs)and lower motor neurons(LMNs),and is usually ... Amyotrophic lateral sclerosis(ALS)is the most common adult-onset motor neuron disease.It is characterized by neuronal loss and degeneration of the upper motor neurons(UMNs)and lower motor neurons(LMNs),and is usually fatal due to respiratory failure within 3–5 years of onset.Although approximately 5–10%of patients with ALS have an inherited form of the disease,the distinction between hereditary and apparently sporadic ALS(SALS)seems to be artificial.Thus,genetic factors play a role in all types of ALS,to a greater or lesser extent.During the decade of upheaval,the evolution of molecular genetics technology has rapidly advanced our genetic knowledge about the causes of ALS,and the relationship between the genetic subtypes and clinical phenotype.In this review,we will focus on the possible genotype-phenotype correlation in hereditary ALS.Uncovering the identity of the genetic factors in ALS will not only improve the accuracy of ALS diagnosis,but may also provide new approaches for preventing and treating the disease. 展开更多
关键词 Amyotrophic lateral sclerosis(ALS) genotype phenotype Sporadic ALS(SALS) Familial ALS(FALS)
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A Novel SLC2OA2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients 被引量:1
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作者 Yan Ding Hui-Qing Dong 《Chinese Medical Journal》 SCIE CAS CSCD 2018年第7期799-803,共5页
Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of I... Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods: Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype. Results: A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we tbund that SLC2OA2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1^st and 8th exons; the second common one is PDGFB where the hot spot covered a length of 220-230 bp localized on the 2^nd exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries. Conclusions: There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease. 展开更多
关键词 genotype Idiopathic Basal Ganglia Calcification phenotype SLC2OA2
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Distribution of Hepatitis B Virus Genotypes and Its Clinical Significance in Hubei Province, China 被引量:1
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作者 童巧霞 吴艳艳 罗端德 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2007年第3期274-277,共4页
The distribution of hepatitis B virus genotype in Hubei province and its clinical signifi- cance were investigated. HBV genotypes of 276 patients were detected by PCR-microplate sandwich hybrization-ELISA technique. T... The distribution of hepatitis B virus genotype in Hubei province and its clinical signifi- cance were investigated. HBV genotypes of 276 patients were detected by PCR-microplate sandwich hybrization-ELISA technique. The level of HBV DNA was detected by using PCR-fluorescence quantification test. Among 276 patients, there were 78 cases of HBV asymptomatic carriers, 110 cases of chronic hepatitis B (CHB), 62 cases of severe hepatitis (SH) or liver cirrhosis (LC) and 26 cases of hepatocellular carcinoma (HCC). The genotypes of HBV included C, B, mixtures (B+C, B+D, C+D) and D, accounting for 55.8%, 25.4%, 16.7% and 2.1% respectively. The average level of HBV DNA in genotypes C, B, mixtures and D was 1.20×106, 7.81×104, 3.26×105 and 5.01×104 cop- ies/mL respectively. The ratio of SH, LC and HCC in genotype B, C and mixtures was 20%, 30% and 48% respectively. Statistical analysis revealed the percentage of genotype mixtures infection was sig- nificantly higher than that of genotype B infection. There was no significant difference in the per- centage between genotype B and genotype C or between genotype C and mixtures. The distribution of genotype B, C and mixtures in SH, LC and HCC was significantly different. The frequency of HCC was zero in patients with co-infection. Genotype D was only related with SH and LC. The in- creased ALT could be converted to categorical grades of severity. From mild, moderate to severity, the prevalence of genotype C showed an opposite trend, although no statistically significant differ- ence was observed. The HBeAg positive rate was higher in patients with genotype C infection than in those with genotype B, especially in the patients whose ages were from 31 to 40 years old. Compared with genotype B, genotype C showed a higher HBeAg positive rate in patients with SH and LC. The percentage of SH, LC and HCC was higher in patients with genotype C and mixtures infection. On the contrary, the percentage of genotype B was lower. The HBeAg positive rate in patients with genotype C infection was higher than those with genotype B infection. Genotype C and mixtures may be associated with development of severe liver disease. 展开更多
关键词 hepatitis B virus DNA genotype clinical phenotype HBEAG
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Precision medicine via the integration of phenotype-genotype information in neonatal genome project 被引量:2
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作者 Xinran Dong Tiantian Xiao +2 位作者 Bin Chen Yulan Lu Wenhao Zhou 《Fundamental Research》 CAS 2022年第6期873-884,共12页
The explosion of next-generation sequencing(NGS)has enabled the widespread use of genomic data in precision medicine.Currently,several neonatal genome projects have emerged to explore the advantages of NGS to diagnose... The explosion of next-generation sequencing(NGS)has enabled the widespread use of genomic data in precision medicine.Currently,several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders.These projects have made remarkable achievements,but still the genome data could be further explored with the assistance of phenotype collection.In contrast,longitudinal birth cohorts are great examples to record and apply phenotypic information in clinical studies starting at the neonatal period,especially the trajectory analyses for health development or disease progression.It is obvious that efficient integration of genotype and phenotype benefits not only the clinical management of rare genetic disorders but also the risk assessment of complex diseases.Here,we first summarize the recent neonatal genome projects as well as some longitudinal birth cohorts.Then,we propose two simplified strategies by integrating genotypic and phenotypic information in precision medicine based on current studies.Finally,research collaborations,sociological issues,and future perspectives are discussed.How to maximize neonatal genomic information to benefit the pediatric population remains an area in need of more research and effort. 展开更多
关键词 Neonatal genome project Rare genetic disorders Precision medicine genotype and phenotype integration Longitudinal birth cohort
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Genetic variability,heritability and genetic advance in linseed(Linum usitatissimum L)genotypes for seed yield and other agronomic traits 被引量:2
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作者 Gemechu Nedi Terfa Gudeta Nepir Gurmu 《Oil Crop Science》 2020年第3期156-160,共5页
The experiment was conducted using simple lattice design with two replication and the trails was totally consisted fifty six genotypes.Data on seed yield and other Agronomic traits were used to estimate the genetic va... The experiment was conducted using simple lattice design with two replication and the trails was totally consisted fifty six genotypes.Data on seed yield and other Agronomic traits were used to estimate the genetic variability parameters,heritability and genetic advance(GA).Analysis of variance revealed highly significant and significant difference for all studied traits.Evaluated characters were exhibited different levels of variability,heritability and genetic advance among the studied genotypes.Low to high phenotypic coefficient of variation(PCV)and genotypic coefficient of variation(GCV)were recorded.The highest GCV and PVC values were found particularly for lodging percent(76.65%and 90.63%),harvest index(42.26%and 47.92%)yield per hectare(41.23%and 48.19%)and number of capsule per branch(30.81%and 37.25%)respectively,whereas low GCV and PCV(8.27%and 9.73%respectively)manifested for days to maturate.The highest broad sense heritability value manifested for harvest index(77.78%)followed by seed yield per hectare(73.21%),while lowest heritability(3.78%)revealed only for seed per capsule.In present study low to moderate genetic advance were manifested and high heritability and genetic advance as percentage of mean(>50)was recorded for lodging percentage,number of capsule per branch,seed yield per hectare and harvest index,indicating predominance of additive gene action for these characters.Therefore the result of this study suggests existence of variability for seed yield and other agronomic traits in these linseed genotypes,which should be exploited in future breeding. 展开更多
关键词 Variability HERITABILITY Genetic advance genotype phenotype
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Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance
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作者 Kassem Barada Aline El Haddad +2 位作者 Meghri Katerji Mustapha Jomaa Julnar Usta 《World Journal of Gastroenterology》 SCIE CAS 2017年第36期6715-6725,共11页
AIM To determine the phenotypes and predominant diseasecausing mutations in Lebanese patients with Wilson's disease,as compared to regional non-European data.METHODS The clinical profile of 36 patients diagnosed i... AIM To determine the phenotypes and predominant diseasecausing mutations in Lebanese patients with Wilson's disease,as compared to regional non-European data.METHODS The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular testing.All patients underwent full physical exam,including ophthalmologic slit-lamp examination ultrasound imaging of the liver,as well as measurement of serum ceruloplasmin and 24-h urinaryCu levels.In addition,genetic screening using PCR followed by sequencing to determine disease-causing mutations and polymorphisms in the ATP7B gene was carried on extracted DNA from patients and immediate family members.Our phenotypic-genotypic findings were then compared to reported mutations in Wilson's disease patients from regional Arab and non-European countries. RESULTS Patients belonged to extended consanguineous families.The majority were homozygous for the disease-causing mutation,with no predominant mutation identified. The most common mutation,detected in 4 out of 13families,involved the ATP hinge region and was present in patients from Lebanon,Egypt,Iran and Turkey.Otherwise,mutations in Lebanese patients and those of the region were scattered over 17 exons of ATP7B.While the homozygous exon 12 mutation Trp939Cys was only detected in patients from Lebanon but none from the regional countries,the worldwide common mutation H1069Q was not present in the Lebanese and was rare in the region.Pure hepatic phenotype was predominant in patients from both Lebanon and the region(25%-65%).Furthermore,the majority of patients,including those who were asymptomatic,had evidence of some hepatic dysfunction.Pure neurologic phenotype was rare. CONCLUSION Findings do not support presence of a founder effect.Clinical and genetic screening is recommended for family members with index patients and unexplained hepatic dysfunction. 展开更多
关键词 WILSON Disease Cu-metabolism phenotype genotype ATP7B HEPATIC MANIFESTATIONS
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Topological spaces via phenotype--genotype spaces 被引量:1
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作者 M. M. EI-Sharkasy M. S. Badr 《International Journal of Biomathematics》 2016年第4期81-96,共16页
Researchers hope that establishing a notion of proximity using topology will help to clarify the biological processes underlying the evolution of living organisms. The simple model presented here, using RNA shapes, ca... Researchers hope that establishing a notion of proximity using topology will help to clarify the biological processes underlying the evolution of living organisms. The simple model presented here, using RNA shapes, can carry over to more general and complex genotype-phenotype systems. Proximity is an important component of continuity, in both real-world and topological terms. Consequently, phenotype spaces provide an appropriate setting for modeling and investigating continuous and discontinuous evolutionary change. 展开更多
关键词 RNA shapes phenotype TOPOLOGY genotype.
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Information schema constructs for defining warehouse databases of genotypes and phenotypes of system manifestation features
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作者 Shahab POURTALEBI Imre HORVáTH 《Frontiers of Information Technology & Electronic Engineering》 SCIE EI CSCD 2016年第9期862-884,共23页
Our long-term objective is to develop a software toolbox for pre-embodiment design of complex and heterogeneous systems, such as cyber-physical systems. The novelty of this toolbox is that it uses system manifestation... Our long-term objective is to develop a software toolbox for pre-embodiment design of complex and heterogeneous systems, such as cyber-physical systems. The novelty of this toolbox is that it uses system manifestation features(SMFs) for transdisciplinary modeling of these systems. The main challenges of implementation of the toolbox are functional design- and language-independent computational realization of the warehouses, and systematic development and management of the various evolving implements of SMFs(genotypes, phenotypes, and instances). Therefore, an information schema construct(ISC) based approach is proposed to create the schemata of the associated warehouse databases and the above-mentioned SMF implements. ISCs logically arrange the data contents of SMFs in a set of relational tables of varying semantics. In this article we present the ISCs necessary for creation of genotypes and phenotypes. They increase the efficiency of the database development process and make the data relationships transparent. Our follow-up research focuses on the elaboration of the SMF instances based system modeling methodology. 展开更多
关键词 Cyber-physical systems Software toolbox Pre-embodiment design System manifestation features(SMFs) Warehouses Database schemata SMF genotypes SMF phenotypes SMF instances Information schema constructs
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Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system
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作者 Lu-Jiao Li Fang Lyu +5 位作者 Yu-Wen Song Ou Wang Yan Jiang Wei-Bo Xia Xiao-Ping Xing Mei Li 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第2期145-153,共9页
Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spec... Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.Methods:A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study.The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing.A new clinical scoring system was developed to quantitatively assess the clinical severity of OI and the genotype-phenotype relationship was analyzed.The independent sample t-test, analysis of variance, Mann-Whitney U-test, Chi-squared test, Pearson correlation, and multiple linear regression were applied for statistical analyses.Results:Among 161 patients with OI, 32.9% missense mutations, 16.8% non-sense mutations, 24.2% splice-site mutations, 24.8% frameshift mutations, and 1.2% whole-gene deletions were identified, of which 38 variations were novel.These mutations led to 53 patients carrying qualitative defects and 67 patients carrying quantitative defects in type I collagen.Compared to patients with quantitative mutations, patients with qualitative mutations had lower alkaline phosphatase level (296 [132, 346] U/L vs.218 [136, 284] U/L, P=0.009) and higher clinical score (12.2 ± 5.3 vs.7.4 ± 2.4, P<0.001), denoting more severe phenotypes including shorter stature, lower bone mineral density, higher fracture frequency, more bone deformity, vertebral compressive fractures, limited movement, and dentinogenesis imperfecta (DI).Patients would not present with DI if the glycine substitutions happened before the 79th amino acid in triple helix of α1 chains .Conclusions:This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI.This new quantitative analysis of genotype-phenotype correlation would be helpful to predict the prognosis of OI and genetic counseling. 展开更多
关键词 OSTEOGENESIS imperfecta COL1A1 Clinical SCORING system genotype phenotype
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Heterogeneity of chronic obstructive pulmonary disease:from phenotype to genotype
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作者 Xu Chen Xiaomao Xu Fei Xiao 《Frontiers of Medicine》 SCIE CSCD 2013年第4期425-432,共8页
Chronic obstructive pulmonary disease(COPD)is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation.Given that multiple systems other th... Chronic obstructive pulmonary disease(COPD)is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation.Given that multiple systems other than the lung can be impaired in COPD patients,the traditional FEV1/FVC ratio shows many limitations in COPD diagnosis and assessment.Certain heterogeneities are found in terms of clinical manifestations,physiology,imaging findings,and inflammatory reactions in COPD patients;thus,phenotyping can provide effective information for the prognosis and treatment.However,phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD,and the role of phenotypes in COPD prevention and early diagnosis remains unclear.This shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain genes.This review briefly describes the heterogeneity of COPD,with focus on recent advances in the correlations between genotypes and phenotypes.The potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated. 展开更多
关键词 chronic obstructive pulmonary disease HETEROGENEITY phenotype genotype PREDICTION
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Genotypes versus phenotypes:The potential paradigm shift in the diagnosis and management of pediatric neoplasms
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作者 Godfrey Chi-Fung Chan Carol Matias Chan 《Pediatric Investigation》 CSCD 2020年第3期204-210,共7页
The gold standard of cancer diagnosis has long been based on histological characteristics.With the rapid advancement of genetic medicine,such standard algorithm of diagnostic approach is facing a challenge.The genetic... The gold standard of cancer diagnosis has long been based on histological characteristics.With the rapid advancement of genetic medicine,such standard algorithm of diagnostic approach is facing a challenge.The genetic findings have been changed from being a"supporting character"into the role of a"main character".More and more disease diagnosis and classification has to be defined by genetic basis.In this article,we focus on the challenges in the field of pediatric oncology.We cited 2 scenarios where genetic information plays a pivotal role in identifying the underlying pathology.The first scenario is that same genetic mutation can lead to variable clinical phenotypes,this includes EWSR1-PATZ1 fusion related neoplasms;BCOR neoplasms;and GATA-2 deficiency related immunodeficiency and myelodysplastic syndrome.Another scenario is relatively more common that is the same clinical and histopathological phenotype with different underlying genotypes.The genotypes actually impact on the treatment response and outcome.We used medulloblastoma as an example.In fact,we can also find similar scenario in many pediatric cancers such as Ewing sarcoma,ependymoma,etc.The essence of this article is to remind clinicians of the rapid development in genetic medicine and it has been reshaping the landscape of the modern disease classification and therapeutic approach.In the near future,it may even lead to a paradigm shift in our disease diagnostic algorithm. 展开更多
关键词 genotype phenotype PEDIATRIC CANCERS
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Heteroresistance in Mycobacteria tuberculosis is an important factor for the inconsistency between the results of phenotype and genotype drug susceptibility tests
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作者 高旭 《China Medical Abstracts(Internal Medicine)》 2014年第2期82-83,共2页
Objective To investigate the impact of heteroresistance on the results of genotype drug susceptibility test for Mycobacterium tuberculosis(M.tuberculosis).Methods A total of 80 phenotype ofloxacin-resistant M.tubercul... Objective To investigate the impact of heteroresistance on the results of genotype drug susceptibility test for Mycobacterium tuberculosis(M.tuberculosis).Methods A total of 80 phenotype ofloxacin-resistant M.tuberculosis isolates obtained from Shanghai Municipal Centers for Disease Control and Prevention were included in the study.The mutations of gyrA and gyrB in each 展开更多
关键词 TUBERCULOSIS phenotype genotype susceptibility OFLOXACIN Mycobacterium isolates GYRA sequencing melting
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Analysis of cardiac troponin C gene TNNC1 c. G175C mutation in a Chinese pedigree with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype
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作者 邢晓博 《China Medical Abstracts(Internal Medicine)》 2017年第1期30-31,共2页
Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pe... Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao 展开更多
关键词 HCM Analysis of cardiac troponin C gene TNNC1 c G175C mutation in a Chinese pedigree with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype gene
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Estimation of Variability, Heritability and Genetic Advance for Phenological, Physiological and Yield Contributing Attributes in Wheat Genotypes under Heat Stress Condition 被引量:2
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作者 Md. Mukhtar Hossain Md. Abul Kalam Azad +1 位作者 Md. Shamiul Alam Touria El-Jaoual Eaton 《American Journal of Plant Sciences》 2021年第4期586-602,共17页
The investigation was carried out in focusing the genetic variability for different traits of wheat influenced by heat tolerance mechanism to find out relationships among phenological, physiological and yield contribu... The investigation was carried out in focusing the genetic variability for different traits of wheat influenced by heat tolerance mechanism to find out relationships among phenological, physiological and yield contributing traits. Spring wheat cultivar of 25 genotypes were selected and cultivated under late sowing condition at the Regional Wheat Research Institute, Shympur, Rajshahi, Bangladesh from December, 2016 to April, 2017. Significant variability among the genotypes exposed for different traits related to heat tolerance. Results showed that the genotypes G24, G10, G01, G13, G16, G25 and G14 </span><span style="font-family:Verdana;">ranked as better category considering maximum number of traits in mean</span><span style="font-family:Verdana;"> performance indicating their tolerance to heat stress under late sowing condition. Phenotypic variances (<i>&sigma;<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>) of all traits were greater than those of genotypic variances (<i>&sigma;<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>). The same trends were also found in their co-efficient of variances. The phenotypic co-efficient of variances (PCV) of all traits were greater compare to those of genotypic co-efficient of variances (GCV) and their values were closer to each other. The heading days (HD), canopy temperature at vegetative stage (CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">), canopy temperature at grain filling stage </span><span><span style="font-family:Verdana;">(CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">), biomass, plant height (PH), spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;"> (SPM), spikelet/spike (SPS), </span></span><span style="font-family:Verdana;">grain/</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">spike (GPS), thousand grain weight (TGW) and yield exhibited higher heritability (<i></span><span style="font-family:Verdana;">h<sub>b</sub><sup style="margin-left:-6px;">2</sup></span><span style="font-family:""><span style="font-family:Verdana;"></i>) estimated under irrigated late sowing (ILS) condition. Under the same ILS condition SPAD, SPM, SPS, GPS, TGW and yield showed moderate to high genetic advance (GA) obtained through computing their mean percentage (%) and the rest traits HD, maturity days (MD), CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">, CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">, biomass, PH and harvest index (HI) exposed smaller genetic advance (% mean). The co-efficient of variation (CV%) of all attributes in all genotypes were significantly lower (1.36</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">- 6.96). Both heritability and genetic advance were found lower for MD, SPAD and HI indicated their non additive genetic effects for </span><span style="font-family:Verdana;">which these traits might not be recommended for selection. However, </span><span style="font-family:Verdana;">spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;">, </span><span style="font-family:Verdana;">spikelet/spike, grain/spike, thousand grain weight and yield belonged to </span><span style="font-family:Verdana;">higher heritability and high to moderate genetic advance in mean percentage (%) along with wide genetic variation and lower environmental influence in heat stress situation indicated the most likely heritability due to the effects of additive genes that might be suggested as effective process of selection for these traits in heat stress condition. 展开更多
关键词 Wheat genotype VARIABILITY HERITABILITY Genetic Advance PCV (Phenotypic Co-Efficient of Variation) GCV (Genotypic Co-Efficient of Variation) Heat Tolerance
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