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Ⅳ型胶原α5链基因突变致奥尔波特综合征两家系遗传学分析 预览

Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families
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摘要 目的:分析奥尔波特(Alport)综合征的遗传学特征。方法:对原因不明的反复尿检异常的2名先证者进行基于高通量测序技术的全外显子组测序,通过基因突变的致病性、孟德尔遗传规律和临床表型的综合分析,筛选出致病的基因突变,最后通过Sanger测序在家系成员中验证基因突变。结果:两个家系中分别鉴定出 COL4A5 基因上的2个杂合性剪接位点突变:c.2147-2A>T(IVS27)和c.646-2A>G(IVS11)(NM_033380),且这2个杂合突变分别与2个家系的患病成员呈现共分离关联。结论:Alport综合征主要通过女性直系患者遗传,临床上可以通过有效的遗传咨询进行产前诊断。 Objective: To investigate genetic characteristics of Alport syndrome. Methods: High-throughput sequencing-based whole exome sequencing was performed in two patients with recurrent unexplained abnormal urinalysis. The pathogenicity of the genetic variations, type of Mendelian genetics, and clinical phenotypes were analysed, and the disease-cause mutations were confirmed in the family members using Sanger sequencing. Results: Two heterozygous splice site mutations of COL4A5 gene c.2147-2A>T (IVS27) and c.646-2A>G (IVS11)(NM_033380) were found in patients of the two families, which showed a co-segregation association with the affected members of the families. Conclusion: Alport syndrome is mainly inherited from direct female patients, and prenatal genetic screening based on amniotic fluid testing can effectively prevent birth defects in patients with a family history of this characteristic phenotype.
作者 叶青 张莹莹 王晶晶 毛建华 YE Qing;ZHANG Yingying;WANG Jingjing;MAO Jianhua(Clinical Laboratory, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China;Department of Nephrology, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China)
出处 《浙江大学学报:医学版》 CAS CSCD 北大核心 2019年第4期384-389,共6页 Journal of Zhejiang University(Medical Sciences)
基金 国家自然科学基金(81501760,81470939,81770710).
关键词 肾炎 遗传性/遗传学 胶原Ⅳ型/遗传学 染色体 X 外显子 突变 系谱 基因检测 表型 Nephritis, hereditary/genetics Collagen type Ⅳ/genetics Chromosomes, human, X Exons Mutation Pedigree Genetic testing Phenotype
作者简介 第一作者:叶青(1983-),男,博士,副主任技师,主要从事儿童疾病致病机制研究,E-mail:qingye@zju.edu.cn,https://orcid.org/0000-0002-5614-2695;通信作者:毛建华(1969-),男,博士,主任医师,博士生导师,主要从事小儿肾脏疾病研究,E-mail:maojh88@zju.edu.cn,https://orcid.org/0000-0002-6076-3806.
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