PVRL2基因多態(tài)性與維吾爾族非綜合征性唇腭裂相關性研究
發(fā)布時間：2019-03-09 20:27
【摘要】：目的探討脊髓灰質炎病毒相關受體2基因(poliovirus receptor-related 2,PVRL2)rs2075642位點多態(tài)性與新疆地區(qū)維吾爾族非綜合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的關系。方法 2014年1月至2015年6月烏魯木齊市第一人民醫(yī)院隨機抽取維吾爾族NSCL/P病例120例,正常對照100名,運用Snapshot分型法測定PVRL2基因rs2075642多態(tài)性。χ~2檢驗基因型分布是否符合Hardy-Weinberg遺傳平衡,分析基因型和等位基因型頻率分布在病例組和對照組的差異。結果資料符合Hardy-Weinberg平衡(P0.05);PVRL2基因rs2075642位點的GA基因型、等位基因A頻率在維吾爾族病例組和對照組間的分布差異均具有統(tǒng)計學意義(分別為χ~2=5.829;P0.05和χ~2=5.642;P0.05)。結論新疆地區(qū)維吾爾族NSCL/P的發(fā)生與PVRL2基因rs2075642位點多態(tài)性相關;人群攜帶雜合突變型GA和等位基因A可能降低NSCL/P的發(fā)生風險。
[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.
【作者單位】： 烏魯木齊市第一人民醫(yī)院骨科;新疆伊犁州新華醫(yī)院口腔科;上海捷瑞生物工程有限公司;江蘇大學附屬人民醫(yī)院心胸外科;新疆醫(yī)科大學第五附屬醫(yī)院囗腔科;新疆醫(yī)科大學基礎醫(yī)學院;杭州師范大學醫(yī)學院;
【基金】：國家自然科學基金(31160231) 杭州師范大學科研啟動基金(PF14002004010)
【分類號】：R782.2
本文編號：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.
【作者單位】： 烏魯木齊市第一人民醫(yī)院骨科;新疆伊犁州新華醫(yī)院口腔科;上海捷瑞生物工程有限公司;江蘇大學附屬人民醫(yī)院心胸外科;新疆醫(yī)科大學第五附屬醫(yī)院囗腔科;新疆醫(yī)科大學基礎醫(yī)學院;杭州師范大學醫(yī)學院;
【基金】：國家自然科學基金(31160231) 杭州師范大學科研啟動基金(PF14002004010)
【分類號】：R782.2
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