THADA基因多态性与非综合征性唇腭裂的相关性研究

Association between THADA Gene Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate

目的:探讨中国北方人群甲状腺腺瘤相关基因(THADA)rs7590268、rs13035011和rs6729902位点单核苷酸多态性(SNPs)与非综合征性唇腭裂(NSCL/P)的相关性。方法:应用聚合酶链式反应-连接酶检测反应(PCR-LDR)检测方法,在335例NSCL/P患者和525例健康体检者中,对THADA基因的rs7590268、rs13035011和rs6729902位点进行检测。结果:rs7590268和rs6729902多态性位点等位基因频率在唇裂组与对照组间的分布差异有统计学意义(P<0.05),rs13035011位点基因型及等位基因频率在病例组和对照组间的分布差异无统计学意义。结论:THADA基因的rs7590268和rs6729902位点单核苷酸多态性可能与中国北方人群非综合征性唇腭裂的发生相关。

Objective：To explore the association between three single nucleotide polymorphisms（SNPs）rs7590268,rs13035011 and rs6729902of THADA gene and nonsyndromic cleft lip with or without cleft palate（NSCL/P）in the northern Chinese population.Methods：Multiple PCR and multiple ligase detection reaction were used to analyze three SNPs（rs7590268,rs13035011 and rs6729902）of THADA in 335NSCL/P patients and 325 healthy individuals.Results：There were significant differences in rs7590268 and rs6729902allelic distribution between cleft lip only and the control group（P〈0.05）.However,there were no significant differences in either genotypic or allelic distribution of rs13005011 between the patients and the controls.Conclusion：The SNPs of rs7590268 and rs6729902in THADA gene may be associated with NSCL/P in the northern Chinese population.