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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。χ~2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χ~2=5.829;P<0.05和χ~2=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。
Objective To investigate the relationship between poliovirus receptor-related 2 (PVRL2) rs2075642 polymorphism and non-syndromic cleft lip with or without cleft palate (NSCL) in Xinjiang Uygur Autonomous Region / P) relationship. Methods From January 2014 to June 2015, 120 cases of Uygur NSCL / P were randomly selected in First People’s Hospital of Urumqi, and 100 normal controls were used. The PVRL2 rs2075642 polymorphism was determined by Snapshot typing. χ ~ 2 test genotype distribution whether in line with the Hardy-Weinberg genetic balance, analysis of genotype and allele frequency distribution in the case group and control group differences. The results were in accordance with the Hardy-Weinberg equilibrium (P> 0.05). The genotype and allele A frequencies of rs2075642 in PVRL2 gene were significantly different between Uygur cases and controls (χ ~ 2 = 5.829; P <0.05 and χ ~ 2 = 5.642; P <0.05). Conclusions The incidence of NSCL / P in Uygur in Xinjiang is related to rs2075642 polymorphism in PVRL2 gene. The population with heterozygous mutant GA and allele A may reduce the risk of NSCL / P.