MTHFR基因C677T和A1298C多态与中国部分人群非综合征性唇腭裂的相关研究  

Relationship between nonsyndromic cleft lip with or without cleft palate(NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C

作　　者：万伟东[1] 王丽君[1] 周小平[2] 周德兰[2] 章庆国[1] 黄金龙[1] 王小宁[2] 

机构地区：[1]东南大学附属中大医院整形外科,南京210009 [2]江苏省妇幼卫生保健中心

出　　处：《中华整形外科杂志》2006年第1期8-11,共4页Chinese Journal of Plastic Surgery

基　　金：江苏省卫生厅医学科技发展基金(编号:Z200312)

摘　　要：目的探讨MTHFR基因C677T和A1298C多态与非综合征性唇腭裂(NSCL/P)发生的关系。方法采用病例对照设计,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,进行亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C多态性检测,并进行遗传统计分析。结果对于MTHFR基因C677T,48个杂合子父母及患儿的核心家庭TDT检验(χ2=0.02,P>0.05);76例NSCL/P患儿和60例正常儿童基因型及等位基因频数病例对照研究(χ2=9.91,P<0.05)。而MTH-FR基因A1298C,27个杂合子父母及患儿的核心家庭TDT检验(χ2=4.00,P<0.05);76例NSCL/P患儿和60例正常儿童基因型及等位基因频数病例对照研究(χ2=4.42,P<0.05)。结论MTHFR基因C677T位点多态与NSCL/P的发生相关,MTHFR基因A1298C位点多态可能是NSCL/P的遗传易感因子。Objective To explore the relationship between nonsyndromic cleft lip with or without cleft palate （NSCL/P） and genetic polymorphism of MTHFR C677T and A1298C in Chinese population. Methods Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques （PCR-RFLP）. Results As to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT （X^2 = 0. 02, P 〉 0.05）. The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study （ X^2 = 9.91, P 〈 0.05） . As to MTHFR A129BC, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT（ X^2 = 4.00, P 〈 0.05）. The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study （ X^2 = 4.42, P 〈 0.05）. Conclusions The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.

关 键 词：非综合征性唇腭裂 基因多态性 亚甲基四氢叶酸还原酶 

分 类 号：R782.2[医药卫生—口腔医学]