中国人群非综合征性唇腭裂与MTHFR基因C677T多态性  

The relationship between nonsyndromic cleft lip with or without cleft palate(NSCL/P) in Chinese population and genetic polymorphism of MTHFRC677T

作　　者：王丽君[1] 万伟东[1] 黄金龙[1] 

机构地区：[1]东南大学附属中大医院整形外科,南京210009

出　　处：《江苏医药》2006年第8期701-702,共2页Jiangsu Medical Journal

基　　金：江苏省卫生厅医学科技发展基金;苏卫科基(2003)2号(Z200312)

摘　　要：目的探讨MTHFR基因C677T多态性与中国人群非综合征性唇腭裂(NSCL/P)发生的关系。方法应用聚合酶链式反应限制性片段长度多态性(PCRRFLP)方法检测MTHFR基因C677T多态性,用病例对照方法进行统计分析。结果计算TDT,χ2=0.02,P>0.05;患儿和正常儿童等位基因频数比较,χ2=9.91,P<0.05;有无家族史比较,差异无显著性。结论MTHFR基因C677T位点多态与中国人群NSCL/P的发生相关。Objective To explore the relationship between genetic polymorphism of MTHFRC677T and NSCL/P in Chinese population. Methods MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques（PCR-RFLP）. Results Transmitted disequilibrium test（TDT） was calculated（X^2 =0.02, P〉0.05）. The allele frenquency among the cases and controls were analyzed through case-controlled study（X^2= 9. 91, P〈 0.05）. Conclusion The genetic polymorphism of MTHFRC677T is associated with the development of NSCL/P in Chinese.

关 键 词：非综合征性唇腭裂 基因多态性 MTHFR 

分 类 号：R782.21[医药卫生—口腔医学]