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Polymorphism of methionine synthase gene in nuclear families of congenital heart disease
Zhu, WL1; Cheng, J1; Dao, JJ1; Zhao, RB1; Yan, LY1; Li, SQ1; Li, Y1
关键词Methionine Synthase Gene Polymorphism Congenital Heart Disease Nuclear Family
刊名BIOMEDICAL AND ENVIRONMENTAL SCIENCES
2004-03-01
17期:1页:57-64
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Environmental Sciences ; Public, Environmental & Occupational Health
研究领域[WOS]Environmental Sciences & Ecology ; Public, Environmental & Occupational Health
关键词[WOS]TOTAL PLASMA HOMOCYSTEINE ; RISK ; REDUCTASE
英文摘要

Objective To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method. Results In offspring of the control group the frequencies of MS genotype (+/-) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+) in case fathers (5.0%) was apparently lower than that in the control (9.1%, P=0.060), and the odds ratio (OR) was 0.53 (95% Cl: 0.25-1.09). There was no difference in parents′ genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-) with OR 0.26 (95% Cl: 0.11-0.60). Conclusion MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.

语种英语
WOS记录号WOS:000220598000009
Citation statistics
Cited Times:4[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50389
Collection北京大学公共卫生学院
北京大学公共卫生学院_公共卫生学院
作者单位1.Beijing Univ, Sch Publ Hlth, Dept Nutr & Food Hyg, Beijing 100083, Peoples R China
2.China Med Univ, Hosp 2, Liaoning 110001, Peoples R China
Recommended Citation
GB/T 7714
Zhu, WL,Cheng, J,Dao, JJ,et al. Polymorphism of methionine synthase gene in nuclear families of congenital heart disease[J]. BIOMEDICAL AND ENVIRONMENTAL SCIENCES,2004,17(1):57-64.
APA Zhu, WL.,Cheng, J.,Dao, JJ.,Zhao, RB.,Yan, LY.,...&Li, Y.(2004).Polymorphism of methionine synthase gene in nuclear families of congenital heart disease.BIOMEDICAL AND ENVIRONMENTAL SCIENCES,17(1),57-64.
MLA Zhu, WL,et al."Polymorphism of methionine synthase gene in nuclear families of congenital heart disease".BIOMEDICAL AND ENVIRONMENTAL SCIENCES 17.1(2004):57-64.
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