Abstract:

Objective    To explore the relationship of non-syndromic cleft lip with or without cleft palate（NSCL/P） with poliovirus receptor-related 2（PVRL2） in Xinjiang Uyghur. Methods    Snapshot genotyping was used to detect rs2075642 polymorphism in 120 Uyghur patients with NSCL/P and 100 controls selected randomly between January 2014 and June 2015 in the First People’s Hospital of Urumqi City. Chi-square tests were used to determine whether it fit Hardy-Weinberg equilibrium and the differences of genotype and allele were analyzed between the two groups. Results    Frequencies distribution of genotype conformed to the law of Hardy-Weinberg equilibrium （P＞0.05）； rs2075642 GA genotype and A allele were statistically different between case and control samples of Uyghur （χ2＝5.829；P＜0.05 and χ2＝5.642；P＜0.05，respectively). Conclusion    PVRL2 gene rs2075642 polymorphism is relevant to NSCL/P in Xinjiang Uyghur. Genotype GA and allele A are protective factors.

Key words: Uyghur ethnicity, NSCL/P, PVRL2, rs2075642

摘要：

目的    探讨脊髓灰质炎病毒相关受体2基因（poliovirus receptor-related 2， PVRL2） rs2075642位点多态性与新疆地区维吾尔族非综合征性唇腭裂（non-syndromic cleft lip with or without cleft palate， NSCL/P）的关系。方法    2014年1月至2015年6月乌鲁木齐市第一人民医院随机抽取维吾尔族NSCL/P病例120例， 正常对照100名， 运用Snapshot分型法测定PVRL2基因rs2075642多态性。χ2检验基因型分布是否符合Hardy-Weinberg遗传平衡， 分析基因型和等位基因型频率分布在病例组和对照组的差异。结果    资料符合Hardy-Weinberg平衡（P＞0.05）； PVRL2基因rs2075642位点的GA基因型、 等位基因A频率在维吾尔族病例组和对照组间的分布差异均具有统计学意义（分别为χ2＝5.829； P＜0.05和χ2＝5.642； P＜0.05）。结论    新疆地区维吾尔族NSCL/P的发生与PVRL2 基因rs2075642位点多态性相关； 人群携带杂合突变型 GA和等位基因A可能降低NSCL/P的发生风险。

关键词: 维吾尔族, 非综合征性唇腭裂, PVRL2, rs2075642