THE DISTRIBUTION OF C699T AND 844ins68 POLYMORPHISMS OF THE CYSTATHIONINE β-SYNTHASE GENE ON GUIZhOU MINORITY IN CHINA
Mild-to-moderately elevated total plasma homocysteine( tHcy) is an established risk factor for the development of Birth Defects (neural tube defects, congenital heart deasease). Some research point that moderate hyperhomocysteinemia can be caused by genetic defects in either the ermethylation or the transsulfuration pathway. Cystathionine β-synthase (CBS) is an important enzyme in the transsulfuration pathway of homocysteine metabolism, which catalyzes the condensation of homocysteine and serine to form cystathionine(a cysteine precursor), recent studies have shown that the polymorphisms, such as the C699T( Y233Y), not only have polymorphism, but also are the reasons of the hyperhomocysteinemia. We analyzed the prevalence of the C699T in the CBS gene in 233 unrelated individuals of Miao and Shui minority in Guizhou province, China As to C699T, by employing PCR combined with denaturing gradient gel electrophoresis (DGGE) and gene sequenceing, we have identified C699T polymorphism in exon 6. There isnt difference between Miao and Shui in terms of the genotype and allele frequencies of the C699T polymorphism, but our study reveals that there exist an extensive ethic and geographic variability for the C699T in the CBS gene.
Cystathionine β-synthase gene polymorphism ethic and geographic variability
Zhuo Chen Keren Shan Xilin Ren
The Key Laboratory of Molecular Biology, Guiyang Medical College, Beijing road 9＃,Guiyang 550004, Ch The Key Laboratory of Molecular Biology, Guiyang Medical College, Beijing road 9＃,Guiyang 550004, Ch
国际会议
The 4th International Forum on Post-genome Technologies(4IFPT)(第四届国际后基因组生命科学技术学术论坛)
杭州
英文
171-172
2006-09-25（万方平台首次上网日期，不代表论文的发表时间）