PVRL2基因多态性与维吾尔族非综合征性唇腭裂相关性研究
发布时间：2019-03-09 20:27
【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(P0.05);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;P0.05和χ~2=5.642;P0.05)。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。
[Abstract]:Aim to investigate the relationship between the rs2075642 polymorphism of poliovirus associated receptor 2 gene (poliovirus receptor-related-2, PVRL2) and non-syndromic cleft lip and palate (non-syndromic cleft lip with or without cleft palate,NSCL/P) in Uygur nationality in Xinjiang. Methods from January 2014 to June 2015, 120 Uighur NSCL/P cases and 100 normal controls were randomly selected from Urumqi first people's Hospital. The rs2075642 polymorphism of PVRL2 gene was determined by Snapshot typing method. 蠂 ~ 2 test was used to determine whether the genotype distribution was in accordance with the genetic balance of Hardy-Weinberg. The differences of genotype and allele frequencies between the case group and the control group were analyzed. Results the data were in accordance with Hardy-Weinberg balance (P0.05), the distribution of GA genotype and allele A frequency of rs2075642 locus of PVRL2 gene in Uighur group and control group were statistically significant (蠂 ~ 2, 5.829, respectively), and there was a significant difference between Uighur group and control group (蠂 ~ 2, 5.829, respectively). (P0.05) and 蠂 ~ 2 (5.642) (P0.05). Conclusion the occurrence of NSCL/P in Uygur nationality in Xinjiang is associated with rs2075642 polymorphism of PVRL2 gene, and heterozygous mutation GA and allele A may reduce the risk of NSCL/P.
【作者单位】： 乌鲁木齐市第一人民医院骨科;新疆伊犁州新华医院口腔科;上海捷瑞生物工程有限公司;江苏大学附属人民医院心胸外科;新疆医科大学第五附属医院囗腔科;新疆医科大学基础医学院;杭州师范大学医学院;
【基金】：国家自然科学基金(31160231) 杭州师范大学科研启动基金(PF14002004010)
【分类号】：R782.2
本文编号：2437818
[Abstract]:Aim to investigate the relationship between the rs2075642 polymorphism of poliovirus associated receptor 2 gene (poliovirus receptor-related-2, PVRL2) and non-syndromic cleft lip and palate (non-syndromic cleft lip with or without cleft palate,NSCL/P) in Uygur nationality in Xinjiang. Methods from January 2014 to June 2015, 120 Uighur NSCL/P cases and 100 normal controls were randomly selected from Urumqi first people's Hospital. The rs2075642 polymorphism of PVRL2 gene was determined by Snapshot typing method. 蠂 ~ 2 test was used to determine whether the genotype distribution was in accordance with the genetic balance of Hardy-Weinberg. The differences of genotype and allele frequencies between the case group and the control group were analyzed. Results the data were in accordance with Hardy-Weinberg balance (P0.05), the distribution of GA genotype and allele A frequency of rs2075642 locus of PVRL2 gene in Uighur group and control group were statistically significant (蠂 ~ 2, 5.829, respectively), and there was a significant difference between Uighur group and control group (蠂 ~ 2, 5.829, respectively). (P0.05) and 蠂 ~ 2 (5.642) (P0.05). Conclusion the occurrence of NSCL/P in Uygur nationality in Xinjiang is associated with rs2075642 polymorphism of PVRL2 gene, and heterozygous mutation GA and allele A may reduce the risk of NSCL/P.
【作者单位】： 乌鲁木齐市第一人民医院骨科;新疆伊犁州新华医院口腔科;上海捷瑞生物工程有限公司;江苏大学附属人民医院心胸外科;新疆医科大学第五附属医院囗腔科;新疆医科大学基础医学院;杭州师范大学医学院;
【基金】：国家自然科学基金(31160231) 杭州师范大学科研启动基金(PF14002004010)
【分类号】：R782.2
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，本文编号：2437818
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