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Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families
Song, Xiao-Ming; Zheng, Xiao-Ying; Zhu, Wen-Li; Huang, Lei; Li, Yong
关键词congenital heart disease gene polymorphism cystathionine beta synthase case-control family study
刊名BIOMEDICAL AND ENVIRONMENTAL SCIENCES
2006-12-01
19期:6页:452-456
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]FOLIC-ACID ; HYPERHOMOCYSTEINEMIA ; METABOLISM ; DEFECTS ; RISK
英文摘要

Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method. Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58.4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67.9% in patients and 55.7% in controls. CHD parents′ genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.

语种英语
WOS记录号WOS:000243277300008
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58419
专题北京大学公共卫生学院
作者单位1.Peking Univ, Inst Populat Res, Beijing 100871, Peoples R China
2.Peking Univ, Lab Mol Toxicol & Dev Mol Biol, Dept Nutr & Food Hyg, Sch Publ Hlth, Beijing 100083, Peoples R China
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GB/T 7714
Song, Xiao-Ming,Zheng, Xiao-Ying,Zhu, Wen-Li,et al. Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families[J]. BIOMEDICAL AND ENVIRONMENTAL SCIENCES,2006,19(6):452-456.
APA Song, Xiao-Ming,Zheng, Xiao-Ying,Zhu, Wen-Li,Huang, Lei,&Li, Yong.(2006).Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families.BIOMEDICAL AND ENVIRONMENTAL SCIENCES,19(6),452-456.
MLA Song, Xiao-Ming,et al."Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families".BIOMEDICAL AND ENVIRONMENTAL SCIENCES 19.6(2006):452-456.
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