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The association between angiogenin gene variations and familial amyotrophic lateral sclerosis in Chinese Han patients

By 张华纲, 张英爽, 唐璐, 张楠 and 樊东升


目的 通过对31个中国汉族家族性肌萎缩侧索硬化(FALS)家系先证者进行血管生长素(ANG)基因突变检测,探讨中国汉族FALS与ANG基因突变的关系.方法 采集2009年至2012年北京大学第三医院神经内科确诊的31个肌萎缩侧索硬化(ALS)家系的临床资料.利用PCR技术和直接测序的方法,检测各家系先证者的ANG基因是否存在变异.结果 31个ALS家系均呈常染色体显性遗传.全部31例先证者未发现存在ANG基因单核苷酸多态性(SNP)和突变.结论 ANG基因的SNP及突变在中国汉族FALS患者中可能非常少见.To investigate effect of genetic variants in angiogenin (ANG) on the susceptibility of familial amyotrophic lateral sclerosis (FALS) in Han Chinese.Thirty-one FALS families from 2009 to 2012 were collected and ANG gene was screened in the probands using PCR and direct sequencing.All 31 ALS families were autosomal dominant inheritance. No mutations and single nucleotide polymorphism were detectable in ANG gene in the 31 probands.Our study suggests that ANG gene variations may be rare in Chinese Han FALS.国家自然科学基金重点项目; 教育部博士点基金PubMed中文核心期刊要目总览(PKU)中国科技核心期刊(ISTIC)中国科学引文数据库(CSCD)02122-1245

Topics: 肌萎缩侧索硬化,家族性 DNA突变分析 多态性,单核苷酸 血管生成素 Amyotrophic lateral sclerosis,familial DNA mutational analysis Polymorphism,single nucleotide Angiogenins
Publisher: 中华内科杂志
Year: 2015
DOI identifier: 10.3760/cma.j.issn.0578-1426.2015.02.008
OAI identifier: oai:localhost:20.500.11897/188025
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