非综合征性唇腭裂与TGFA基因rs 3771523位点SNP相关性的研究

Research of correlation between non-syndromic cleft lip and/or palate and TGFA gene rs 3771523 locus SNP

目的探讨核心家庭中转化生长因子α(TGFA)rs 3771523位点单核苷酸多态性(SNP)与非综合征性唇腭裂(NSCL/P)的关系。方法 166例NSCL/P患者,患者父母271例,核心家庭111个。采用芯片检测基因型,进行家庭为基础的关联检验(FBAT)。结果父母基因型分布未偏离HW平衡(P>0.05);NSCL/P核心家庭中rs 3771523等位基因G和等位基因A存在过低传递和过度传递。结论 TGFA基因rs 3771523等位基因A与NSCL/P的发生密切相关。

Objective To explore the relationship between transforming growth factor α（TGFA） rs 3771523 locus single nucleotide polymorphism（SNP） and non-syndromic cleft lip and/or palate（NSCL/P） in nuclear families. Methods There were 166 NSCL/P patients, 271 parents, and 111 nuclear families. The genotypes were detected by microarray, and family-based association tests（FBAT） were performed. Results The genotype distribution of the parents was not diverged from HW balance（P〉0.05）. In the NSCL/P nuclear families, over-transmission and under-transmission were found in rs 3771523 allele G and A. Conclusion There is a close relationship between TGFA gene rs 3771523 allele A and NSCL/P.