TGFA基因多态性与NSCL/P的遗传易感性  

A study on the association between TGFA gene polymorphism and NSCL/P susceptibility.

作　　者：周德兰[1] 刘嘉茵[1] 王丽君[2] 

机构地区：[1]南京医科大学第一附属医院妇产科,210029 [2]中大医院整形外科

出　　处：《中国妇幼保健》2005年第18期2303-2305,共3页Maternal and Child Health Care of China

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

摘　　要：目的:探讨中国汉族人TGFA基因的多态性对非综合征性唇腭裂的遗传易感性的作用。方法:76例核心家庭和60例正常对照儿童的TGFA基因型,采用病例对照研究和传递不平衡检验进行分析。结果:病例对照研究结果表示:(2χ=7.77,P<0.05),TDT(2χ=5.26,P<0.05))。结论:TGFA C2等位基因在NSCL/P中存在连锁不平衡,TGFA基因多态性可能是中国汉族人NSCL/P的遗传易感性因素。Objective： To investigate the effect of TGFA gene polymorphism on genetic susceptibility of NSCL/P in Chinese. Methods： TGFA gene types were determined by PCR - RFLP. 76 NSCL/P patients and 60 controls were analyzed through case - control study. 29 heterozygous parents with an affected child were analyzed through case - parental control study from transmitted disequilibrium test （TDT）. Results： The case-control study showed： （χ^2 =7. 77, P〈0. 05, TDT （χ^2 =5. 26, P〈0. 05）. Conclusion： These resuits indicated that a gene for susceptibility to NSCIL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus, The TGFA C2 allele increases the probability that the NSCL/P phenotype will occur in China population.

关 键 词：唇裂 基因 遗传学 疾病易感性 

分 类 号：R715.5[医药卫生—妇产科学]