中国东北地区人群非综合征唇腭裂与PAX7基因的相关性

Association between Nonsyndromic Cleft Lip with or without Clept Palate and PAX7 in Northeastern Chinese People

目的探讨rs742071、rs7632427和rs12543318 3个单核苷酸多态(SNP)位点与非综合征唇腭裂(NSCL/P)发生的相关性。方法收集东北地区NSCL/P患者258例,患者父亲164例,患者母亲195例,共134个完整核心家系和300例正常对照样品,用PCR-RFLP方法进行基因分型,对分型结果用SPSS统计学软件进行统计分析。结果 PAX7基因的rs742071的GT基因型和T等位基因在病例对照组中分布有统计学差异,并且FBAT分析结果显示T等位基因在核心家系中发生了过渡传递。rs7632427和rs12543318的基因分型结果无统计学差异。结论 rs742071与中国东北地区人群NSCL/P的发生相关。

Objective To investigate the relationship between NSCL/P and three SNPs including rs742071,rs7632427 and rs12543318. Methods A total of 134 tri-family and 300 common controls were recruited for the study,including 258 NSCL/P patients,164 cases of patient＇s father,and195 cases of patient＇s mother. PCR-RFLP was used to genotype the three SNPs,and the result was calculated by SPSS package. Results The distribution of GT genotype and T allelic gene of rs742071 was statistical different. The FBAT result also showed that over transmission of T allelic gene from parents to child. However,no statistical differences of rs7632427 and rs12543318 were observed. Conclusion There is correlation between rs742071 and NSCL/P in northeastern Chinese people.