对患有常染色体隐性肢带型肌营养不良症（LGMD）的家族以及肌营养不良蛋白相关序列两侧的6q探针进行连锁分析。

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

作者信息

Passos-Bueno M R, Terwilliger J, Ott J, Vainzof M, Love D R, Davies K E, Zatz M

机构信息

Departamento de Biologia, Universidade de São Paulo, Brazil.

出版信息

Am J Med Genet. 1991 Jan;38(1):140-6. doi: 10.1002/ajmg.1320380130.

DOI:10.1002/ajmg.1320380130

PMID:2012126

Abstract

The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 individuals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.

摘要

与X连锁型肌营养不良症的临床相似性，以及肌营养不良蛋白基因羧基末端结构域中类DMD序列与1.8 kb序列之间同源性的独特性，使得人们认为这个6号染色体序列可能是常染色体隐性肌营养不良症之一的有力候选基因。因此，我们通过连锁分析来检测，位于肌营养不良蛋白同源序列两侧的6号染色体探针是否与导致肢带型肌营养不良症（LGMD）的基因连锁。我们研究了来自19个巴西无亲缘关系的大家庭的总共226个人（57名患者和169名未受影响的亲属）。两点分析结果排除了在θ = 0.10时与MYB（6q22 - 23）和ESR（6q24 - q27）的连锁，以及在θ = 0.05时与TCP1（6q25 - q27）的连锁，这表明LGMD基因不在6q23 - q27区域。因此，肌营养不良蛋白同源序列不是导致LGMD的基因。