DNA聚合酶基因在共济失调毛细血管扩张症家系突变状态的研究  

Study on mutation status of DNA polymerase genes in ataxia telangiectasia families

作　　者：刘宇[1] 王培昌[1] 

机构地区：[1]首都医科大学宣武医院检验科,北京100153

出　　处：《检验医学与临床》2017年第7期944-947,共4页Laboratory Medicine and Clinic

摘　　要：目的通过对一个基因损伤修复缺陷性疾病共济失调毛细血管扩张症(AT)家系DNA聚合酶基因突变分析,初步观察其稳定突变位点,为上述疾病易感基因风险突变位点的进一步确定奠定基础。方法对该家系先征者DNA聚合酶基因家族,polA、polB、polD1、polD2、polE1、polG测序,检测突变位点,分析并筛选有意义突变位点;对该家系成员在先征者有意义突变区域直接测序。结果 AT家系患儿DNA聚合酶基因无外显子突变,但在polE1 12p24.3 132696619A>G,该突变位置处于该基因的3′UTR下游;家系中患儿的母亲、外祖母及舅舅发生12p24.3 132696619A>G。结论 AT家系先证者在DNA聚合酶基因外显子没有检测到突变位点,但在3′UTR位置检测到一个有意义突变位点,在家系成员中亦有突变,其可能为AT疾病的稳定突变位点。Objective To preliminarily observe the stable mutation site by analyzing DNA polymerase gene mutation in a family with ataxia telangiectasia（AT）as gene damage repair defect disease to lay the foundation of further determination of susceptibility gene risk mutation site of this disease.Methods The DNA polymerase gene families polA,polB,polD1,polD2,polE1,polG of the AT proband were performed the direct sequencing for analyzing and screening the meaningful mutation sites.The mutation regions of proband in the family members were directly sequenced.Results The child patient with AT had no mutation of exon in the DNA polymerase gene,but which happened at polE1 12p24.3 132696619 A〉G.The mutation location was in the gene 3′UTR downstream.The family members sequencing results of the site mentioned above：the child′s mother,grandmother and uncle happened12p24.3 132696619 A〉G.Conclusion Although no mutation site is not detected in DNA polymerase gene exon of the AT proband,there is a mutation site in the 3′UTR position,there are also mutations in family members,which may be a stable mutation site of AT.

关 键 词：共济失调毛细血管扩张症 DNA聚合酶基因 家系 基因突变 基因表达 

分 类 号：R543.7[医药卫生—心血管疾病]