黔北人群TGFα基因多态性与非综合征性唇腭裂的相关性研究  

Correlation between Single Nucleotide Polymorphism of TGFα Gene and Nonsyndromic Cleft Lip with or without Cleft Palates in North of Guizhou Province

作　　者：李三华 喻昌燕 姜念 姚涛[2] 陈全利[3] Li Sanhua;Yu Changyan;Jiang Nian;Yao Tao;Chen Quanli(Research Center for Medicine and Biology,Zunyi Medical University,Zunyi,563099;Affiliated Stomatological Hospital of Zunyi Medical University,Zunyi,563000;Affiliated Hospital of Zunyi Medical University,Zunyi,563000)

机构地区：[1]遵义医学院医学与生物学研究中心,遵义563099 [2]遵义医学院附属口腔医院,遵义563099 [3]遵义医学院附属医院,遵义563099

出　　处：《基因组学与应用生物学》2020年第3期1438-1443,共6页Genomics and Applied Biology

基　　金：贵州省科学技术厅社发公关科技计划课题((2013)3070)资助。

摘　　要：本研究旨在探讨黔北地区人群TGFα基因3个SNP位点的多态性及其与非综合征性唇腭裂的相关性。采用PCR和测序方法对86个对照儿童(其中核心家系41例)和116个NSCL/P儿童(其中核心家系52例)的TGFα基因rs11466297、rs473698和rs115055578 3个SNP位点进行扩增和测序;对样本群体进行Hardy-weinberg平衡检测,对2组人群进行基因型频率、等位基因频率比较及OR分析;对病例组核心家系进行HHRR和TDT检验。对照组与病例组人群rs11466297基因型均为AA野生型,rs473698位点包含GG型、GC型和CC型,rs115055578位点基因型均为GG野生型。对于rs473698位点,对照组和病例组均符合Hardy-Weinberg平衡法则(p>0.05),2组人群的基因型和等位基因频率分布差异均无统计学意义(p<0.05);rs473698位点未发现传递不平衡现象(p>0.05)。黔北地区人群TGFα基因rs11466297和rs115055578位点以野生纯合型为主,rs473698位点具有多态性,但其多态性与黔北地区人群区非综合征性唇腭裂的发生可能没有相关性。The aim of this study was to identify the relativity between polymorphism of three SNPs in TGFα gene and the NSCL/P in north of Guizhou province. PCR and Next-generation sequencing technology were used to detect the rs11466297, rs473698 and rs115055578 in 86 children without NSCL/P(control group, including 41 nuclear families) and 116 children with NSCL/P(case group, including 52 nuclear families). Hardy-weinberg equilibrium, allele frequency, genetype frequency and OR analyses were performed on each group. HHRR and TDT tests were performed on the nuclear families of case group to analyze the correlation between the polymorphism of SNP allele and NSCL/P and the status of transmission disequilibrium. The genetype of rs11466297 allele was AA wild type and rs115055578 allele was GG wild type in all people while rs473698 allele contained GG, GC and CC genetypes. As to rs473698 allele, the two groups were in line with the principles of Hardy-Weinberg equilibrium(p>0.05). Frequencies of genotype and allele of rs473698 allele in 2 groups were not statistically different(p>0.05).Results of HHRR test showed no significant correlation between the polymorphism of rs473698 allele and NSCL/P(p >0.05). Results of TDT test showed no linkage disequilibrium between polymorphism of rs473698 allele and NSCL/P(p>0.05). Wild homozygote may be the dominant genetype of rs11466297 and rs115055578 in TGFα gene of the people in north of GuiZhou province. The polymorphism of rs473698 allele of TGFα gene has no correlation between the NSCL/P in people in north of GuiZhou province.

关 键 词：非综合征性唇腭裂 TGFΑ SNP 单倍型相对风险分析 传递不平衡检验 

分 类 号：R782.2[医药卫生—口腔医学]