Analysis of chromosome 9 open reading frame 72 intermediate hexanucleotide repeat expansions in familial amyotrophic lateral sclerosis population from mainland China

VernacularTitle:家族性肌萎缩侧索硬化患者9号染色体开放阅读框72基因六核苷酸GGGGCC中度重复扩增研究
Author: Rong LIU ; Lu TANG ; Nan ZHANG ; Dongsheng FAN
Publication Type:Journal Article
Keywords: Amyotrophic lateral sclerosis; Polymorphism,single nucleotide; Haplotypes; Genetic predisposition to disease
From: Chinese Journal of Neurology 2014;47(7):487-490
CountryChina
Language:Chinese
Abstract: Objective To identify the existence of chromosome 9 open reading frame 72 (C9ORF72) intermediate hexanucleotide (GGGGCC) repeat expansions as well as the mutation-related clinical phenotypes in familial amyotrophic lateral sclerosis (fALS) population from mainland China.Methods DNA samples and clinical data of 62 fALS cases were collected,then the pathological GGGGCC repeat expansions were detected.Haplotype analysis for 20 single nucleotide polymorphisms (SNPs) was performed finally.Results The C9ORF72 intermediate repeat expansions were found in one fALS patient (1.61％,1/62),and repeat number was 24.In addition,2 siblings of this fALS patient also had a 24 repeats allele.These 24 repeat alleles were associated with the pathogenic founder haplotype.Conclusions This study illustrates the existence of the C9ORF72 intermediate repeat expansions in fALS population from mainland China for the first time.An intermediate repeat length in C9ORF72 is related to fALS in mainland China.