1个肢带型肌营养不良症2E型中国家系基因分析及遗传学特点  

Genetic analysis and genetic characteristics of a Chinese family with limb-girdle muscular dystrophy type 2E

作　　者：武宜亮[1,2] 殷其改 王晓斌[2] Wu Yiliang;Yin Qigai;Wang Xiaobin(Department of Pediatric,the First People’s Hospital of Lianyungang City,Lianyungang 222003,China;Department of Pediatric,People’s Hospital of Khorgos City,Khorgos 835000,China)

机构地区：[1]江苏省连云港市第一人民医院儿科,222003 [2]新疆霍尔果斯市人民医院儿科,835000

出　　处：《国际遗传学杂志》2020年第3期140-147,共8页International Journal of Genetics

摘　　要：目的研究肢带型肌营养不良(limb-girdle muscular dystrophy,LGMD)2E型家系的临床表型、基因及遗传学特点,分析可能与LGMD2E发病有关的基因。方法收集并分析先证者(中国籍哈萨克族男性)及其患病胞妹(长)的临床资料及遗传学特点,获取该家系成员外周血,提取DNA,应用多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)技术、片段分析及高通量测序方法对先证者进行肌肉疾病相关的致病基因进行检测,证实突变位点后对其父母及两位胞妹相同位点进行测序,并分析其致病性。结果本研究先证者SGCB基因可见一纯合致病变异(c.622-1G>T),其患病胞妹(长)SGCB基因相同位点见同一纯合致病变异,另一胞妹(次)SGCB相同位点见一杂合致病变异,其父母为杂合携带,该变异尚未见文献报道,生物信息软件预测其影响mRNA剪接。结论本研究家系为常染色体隐性遗传的SGCB基因变异所引起的LGMD2E型。本研究的发现扩展了SGCB基因突变谱,为LGMD2E诊断提供了帮助。Objective To study the clinical phenotype,genotype and genetic characteristics of limb-girdle muscular dystrophy(LGMD),and analyze the possible genes related to the pathogenesis of LGMD.Methods Clinical data and genetic characteristics of the proband(Chinese Kazakh male)and his sick elder sister were collected.Genomic DNA was extracted from peripheral blood samples of the family members.Using MLPA technology,fragment analysis and high-throughput sequencing,pathogenic genes related to muscle diseases were detected in the proband.After confirming the mutation site,the same sites of the parents and the two sisters were sequenced.And the pathogenicity of the mutation site was analyzed.Results SGCB gene of the proband showed a homozygous pathogenic mutation(c.622-1G>T).In the same site,SGCB gene of the sick elder sister showed the same homozygous pathogenic mutation,and SGCB gene of the younger sister showed a heterozygous pathogenic mutation.Their parents are heterozygous carriers.This mutation had not been reported in the literature.Bioinformatics software predicted the mutation would impact the splicing of mRNA.Conclusion The family in this study is a LGMD2E type caused by SGCB gene mutation.This study extends the mutation spectrum of the SGCB gene and helps for the diagnosis of LGMD2E.

关 键 词：肢带型肌营养不良2E型 SGCB基因 剪接突变 纯合变异 杂合变异 

分 类 号：R746.2[医药卫生—神经病学与精神病学]