云南汉族人群C2orf91基因rs6740960位点多态性与非综合征性唇腭裂的相关性  

Correlation between C2orf91 Gene rs6740960 Polymorphism and Non-syndromic Cleft Lip and Palate for Han Population in Yunnan Province

作　　者：李秀玲[1] 董旭东[1] 颜芳[1] 陈醇侯 晴沙 刘焕玲[1] LI Xiu-ling;DONG Xu-dong;YAN Fang;CHEN Chun;HOU Qing-sha;LIU Huan-ling(Dept.of Obstetrics,The First People’s Hospital of Yunnan&Affiliated Hospital of Medical School,Kunming University of Science and Technology,Kunming Yunnan 650032,China)

机构地区：[1]云南省第一人民医院/昆明理工大学附属医院产科,云南昆明650032

出　　处：《昆明医科大学学报》2020年第6期80-84,共5页Journal of Kunming Medical University

基　　金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目[2017FE468(-120)];云南省医疗卫生单位内设研究机构项目(2016NS200)。

摘　　要：目的探讨云南汉族人群C2orf91基因rs6740960位点单核苷酸多态性(SNP)与非综合征性唇腭裂(NSCL/P)的相关性。方法病例组非综合征性唇腭裂胎儿148例,对照组正常新生儿180例。采用sanger测序技术对病例组和对照组的C2orf91基因rs6740960位点多态性进行检测;首先对rs6740960位点等位基因和基因型频率分布来进行Hardy-Weinberg平衡检验,然后运用Pearsonχ2检验法对两组的等位基因和基因型分别相比较。结果病例组和对照组等位基因和基因型分布与Hardy-Weinberg平衡定律相一致(P> 0.5);C2orf91基因rs6740960位点等位基因频率在两组之间比较没有统计学差异(P=0.778 5);两组基因型频率经χ2检验均无显著性差异(P=0.8368)。结论在云南汉族人群中C2orf91基因rs6740960位点单核苷酸多态性与非综合征性唇腭裂的发生无相关性。Objective To investigate the relationship between single nucleotide polymorphism(SNP)at rs6740960 of c2orf91 gene and non syndromic cleft lip and palate(NSCL/P)in Yunnan Han population.Methods 148 cases of nonsyndromic cleft lip and/or cleft palate fetus were chosen as the study subjects,and 180 cases of normal newborn as a control group.Sanger sequencing was used to detect the rs6740960 polymorphism of C2orf91 gene in the case group and control group.First,hardy-Weinberg balance test of genotype distribution and allele frequency distribution was carried out,then allele frequency and genotype distribution were compared by Pearsonχ2 between the two groups separately.Results The allele and genotype distribution between the case group and the control group were in accordance with Hardy-Weinberg equilibrium law(P>0.5);the allele frequency of rs6740960 of c2orf91 gene had no significant difference between the case group and the control group(P=0.7785).There was no significant difference in genotype frequency between the case group and the control group by chi square test(P=0.8368).Conclusion There is no correlation between the rs6740960 single nucleotide polymorphism of c2orf91 gene and the occurrence of NSCL/P in Yunnan Han population.

关 键 词：非综合征性唇腭裂 C2orf91基因 rs6740960多态性 sanger测序 

分 类 号：R715.5[医药卫生—妇产科学]