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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 association between three single nucleotide polymorphisms (SNPs) of rs742071, rs7632427 and rs12543318 and the occurrence of non-syndromic cleft lip and palate (NSCL / P). Methods A total of 258 patients with NSCL / P in Northeast China were enrolled, 164 patients were patients and 195 mothers were enrolled. A total of 134 complete nuclear families and 300 normal controls were collected and genotyped by PCR-RFLP. The typing results were analyzed by SPSS Statistical software for statistical analysis. Results The distribution of GT genotype and T allele of rs742071 PAX7 gene in the case control group was statistically different, and FBAT analysis showed that the T allele had transitional transmission in the nuclear family. rs7632427 and rs12543318 genotyping results no significant difference. Conclusion rs742071 is associated with the occurrence of NSCL / P in the population of northeastern China.