Study on the relationship between methylenetetrahydrofolate reductase gene C677T mutation and coronary heart disease
10.3760/j.issn:1003-9406.2001.03.011
- VernacularTitle:亚甲基四氢叶酸还原酶基因C677T突变与冠心病的连锁分析
- Author:
Xiaoling WANG
1
;
Dongfeng GU
;
Feng SUN
;
Xigui WU
;
Quanjun YU
;
Xuan JIA
;
Jiangong ZHAO
;
Yan CHEN
Author Information
1. Chinese Academy of Medical Sciences and Peking Union Medical College
- From:
Chinese Journal of Medical Genetics
2001;18(3):206-208
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate whether methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is linked with coronary heart disease (CHD). Methods Transmission/disequilibrium test(TDT), sib transmission/disequilibrium test(STDT), and sibship disequilibrium test(SDT) were used. Forty-five CHD pedigrees with at least one CHD patient in the first degree relatives of probands were recruited from Oct. 1998 to Feb. 1999. Among those recruited were 21, 2 and 22 pedigrees with the genotypes of both parents known, one parental genotype unknown and both unknown, respectively. MTHFR genotype was measured by PCR-RFLP technique. Results Neither the TDT for 23 nuclear families with at least one parental genotype known or the STDT and SDT for 40 sibships found significant difference between the transmitted and untransmitted MTHFR gene 677T allele distributions. Conclusion The above results suggest that MTHFR gene 677T allele is probably not linked with CHD in Chinese population.