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

发布时间：2018-01-12 07:33

本文关键词：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　出处：《检验医学与临床》2017年07期 　论文类型：期刊论文

【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 132696619AG,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 132696619AG。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。
[Abstract]:Objective to investigate the stable mutation of DNA polymerase gene in a family of ataxia capillary dilatation (ATA). Methods the DNA polymerase gene family of this family was poled to polD1 polD2. PolE1G was sequenced, mutation sites were detected, and meaningful mutation sites were analyzed and screened. The significant mutation region of this family member was directly sequenced. Results there was no exon mutation of DNA polymerase gene in AT pedigrees. However, in polE1 12p24.3 132696619AG, the mutation was located downstream of the gene. There were 12p24.3 132696619AG in the mothers, grandmothers and uncles of the children in the family. Conclusion No mutation site was detected in the exon of DNA polymerase gene in the proband of AT pedigree. However, a significant mutation site was detected at the 3U UTR site, and there was also a mutation in the family members, which may be a stable mutation site for AT disease.
【作者单位】：首都医科大学宣武医院检验科;
【分类号】：R596;R440
【正文快照】： 共济失调毛细血管扩张症(AT)是一种累及神经、皮肤、血管、内分泌系统、网状内皮系统等的罕见常染色体隐性遗传病,发病率约为1∶100 000~1∶40 000[1]。AT累及多器官、多系统,并且有肿瘤易感性、基因组不稳定性、辐射敏感性、免疫缺陷、进行性小脑退变及性腺萎缩等诸多特点。

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