弗里德赖希共济失调：一种由内含子GAA三联体重复扩增引起的常染色体隐性疾病。

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

作者信息

Campuzano V, Montermini L, Moltò M D, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani S I, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P I, Di Donato S, Mandel J L, Cocozza S, Koenig M, Pandolfo M

机构信息

Department de Genetica, University of Valencia, Spain.

出版信息

Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.

DOI:10.1126/science.271.5254.1423

PMID:8596916

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

摘要

弗里德赖希共济失调（FRDA）是一种常染色体隐性退行性疾病，累及中枢和外周神经系统以及心脏。在9号染色体q13区域的FRDA基因座关键区域中鉴定出一个基因X25。该基因编码一种含210个氨基酸的蛋白质——酵母铁硫蛋白，在诸如秀丽隐杆线虫和酵母等远缘物种中存在同源物。发现少数FRDA患者X25基因存在点突变，但大多数患者X25基因的第一个内含子中有一段不稳定的GAA三核苷酸扩增，呈纯合状态。