突尼斯常染色体隐性杜兴氏样肌营养不良症与13号染色体q臂着丝粒周围区域的连锁关系。

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

作者信息

Ben Othmane K, Ben Hamida M, Pericak-Vance M A, Ben Hamida C, Blel S, Carter S C, Bowcock A M, Petruhkin K, Gilliam T C, Roses A D

机构信息

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

Nat Genet. 1992 Dec;2(4):315-7. doi: 10.1038/ng1292-315.

DOI:10.1038/ng1292-315

PMID:1303286

Abstract

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

摘要

常染色体隐性杜氏样肌营养不良症（DLMD）是一种严重的营养不良性肌病。由于其临床症状与杜氏肌营养不良症（DMD）相似，其发病率尚不清楚。对来自突尼斯的三个高度近亲繁殖的DLMD家族使用135个多态性微卫星标记进行了染色体连锁分析。在13q12位点D13S115处发现显著的lod分数z = 9.15，θ = 0.03。另外两个13q12标记D13S143和D13S120也给出了显著的lod分数。因此，原发性DLMD缺陷基因位于13号染色体q臂的着丝粒周围区域。