MTHFR基因A1298C多态与非综合征性唇腭裂的遗传易感性  

Single nucleotide polymorphism in methylenetetrahydrofolate reductase gene and usceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese population

作　　者：王丽君[1] 黄金龙[1] 万伟东[1] 周德兰[1] 

机构地区：[1]东南大学附属中大医院整形外科,江苏南京210009

出　　处：《中国实用美容整形外科杂志》2005年第3期176-178,共3页

基　　金：苏卫科基金资助项目(Z200312)

摘　　要：目的探讨MTHFR基因A1298C多态性与中国人群非综合征性唇腭裂发生的关系。方法应用聚合酶链式反应-限制性片段长度多态性方法,进行MTHFR基因A1298C多态性检测,用病例对照方法进行统计分析。结果75个非综合征性唇腭裂核心家庭中,有27个杂合子父母,对其进行以父母为对照的病例对照研究,计算TDT,χ2=4.00,P<0.05,并对76例非综合征性唇腭裂患儿和60例正常儿童的基因型及等位基因频数,进行对照研究,χ2=4.42,P<0.05。结论MTHFR基因A1298C位点多态性可能是中国人NSCL/P的遗传易感因素。Objective To explore the relationhip between genetic polymorphim in methylenetetrahydrofolate reductase (MTHFR), a central enzyme in folate metabolism that affects DNA methylation and synthesis, and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P). Methods MTHFR genotypes were determined by PCR-RFLP. Results 27 heterozygous parents with an affected child were analysed through case-parental control study, from which transmitted disequilibrium test (TDT) was calculated, χ2= 4.00,P<0.05; The genotype frequency and allele frenquency among 76 NSCL/P cases and 60 controls were analysed through case-control study, χ2=4.42, P<0.05. Conclusion Single nucleotide polymorphism in MTHFR gene is a risk factor of NSCL/P in the Chinese population.

关 键 词：唇碍裂 基因 MTHFR 多态性 疾病易感性 

分 类 号：R782.2[医药卫生—口腔医学]