PVRL2基因多态性与维吾尔族非综合征性唇腭裂相关性研究  

Investigation into the relationship between PVRL2 gene polymorphism and non-syndromic cleft lip with or without cleft palate in Uyghur

作　　者：李栋 祁恩春 余雷 潘慧文[4] 古力巴哈·买买提力[5] 代红燕 王玲[6] 洪玉[6,7] 

机构地区：[1]乌鲁木齐市第一人民医院骨科,新疆乌鲁木齐830054 [2]新疆伊犁州新华医院口腔科,新疆伊宁835000 [3]上海捷瑞生物工程有限公司,上海201619 [4]江苏大学附属人民医院心胸外科,江苏镇江212002 [5]新疆医科大学第五附属医院口腔科,新疆乌鲁木齐830054 [6]新疆医科大学基础医学院,新疆乌鲁木齐830054 [7]杭州师范大学医学院,浙江杭州310018

出　　处：《中国实用儿科杂志》2016年第2期139-142,共4页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金(31160231);杭州师范大学科研启动基金(PF14002004010)

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。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 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. Cbi-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. Re- suits 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 ease and control samples of Uyghur （X2 = 5.829; P 〈 0.05 and X2 = 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.

关 键 词：维吾尔族 非综合征性唇腭裂 PVRL2 rs2075642 

分 类 号：R72[医药卫生—儿科]