一组临床特征相同的面肩肱型（兰杜济 - 德热里纳型）肌营养不良症家族：六条常染色体的连锁分析
A clinically homogeneous group of families with facioscapulohumeral (Landouzy-Déjérine) muscular dystrophy: linkage analysis of six autosomes.
作者信息
Jacobsen S J, Diala E S, Dorsey B V, Rising M B, Graveline R, Falls K, Schultz P, Hogan C, Rediker K, D'Amico C
机构信息
Department of Pediatrics, University of California School of Medicine, La Jolla.
出版信息
Am J Hum Genet. 1990 Sep;47(3):376-88.
Facioscapulohumeral muscular dystrophy (FSHMD) is a neuromuscular disorder characterized by autosomal dominant inheritance and clinical onset in the muscles of the face and shoulder girdle. Using a set of RFLP markers spaced at approximately 20 centimorgans, we have begun a systematic search for markers linked to the disease. A total of 81 RFLP loci on six autosomes (1, 2, 5, 7, 10, and 16) have been examined for linkage to FSHMD in 13 families. With the computer program CRI-MAP, two-point and multipoint analyses have not resulted in any LOD score indicative of linkage to FSHMD. However, these analyses have allowed us to exclude 909 centimorgans (sex average) of our genetic maps in intervals where the LOD score is less than -2.0. We estimate our data have excluded 23% of the human genome.
面肩肱型肌营养不良症（FSHMD）是一种神经肌肉疾病，其特征为常染色体显性遗传，临床症状始于面部和肩胛带肌肉。我们使用一组间距约为20厘摩的限制性片段长度多态性（RFLP）标记，开始系统地寻找与该疾病相关的标记。在13个家族中，我们检查了六条常染色体（1、2、5、7、10和16）上总共81个RFLP位点与FSHMD的连锁情况。使用计算机程序CRI-MAP进行两点和多点分析，未得出任何表明与FSHMD连锁的对数优势（LOD）分数。然而，这些分析使我们能够在LOD分数小于-2.0的区间内，从我们的遗传图谱中排除909厘摩（性平均）。我们估计我们的数据已排除了人类基因组的23%。
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