一种新发现的伴有心脏受累的常染色体显性肢带型肌营养不良症（LGMD1B）的基因定位至1号染色体1q11 - 21区域。
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
作者信息
van der Kooi A J, van Meegen M, Ledderhof T M, McNally E M, de Visser M, Bolhuis P A
机构信息
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
出版信息
Am J Hum Genet. 1997 Apr;60(4):891-5.
Abstract
Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One autosomal dominant family, LGMD1A, has been linked to chromosome 5q, whereas in other autosomal dominant families linkage to this chromosome has been excluded. We studied 58 members of three families with a newly recognized autosomal dominantly inherited LGMD with cardiac involvement. A search with highly polymorphic microsatellite markers was carried out. The gene for this newly recognized dominant form of LGMD was located on chromosome 1q11-21, with a combined maximum two-point LOD score >12 at theta = 0.
摘要
肢带型肌营养不良症（LGMD）是一组临床和遗传异质性的肌源性疾病，其肌无力呈肢带分布。一个常染色体显性遗传家系，即LGMD1A，已被定位到5号染色体q区，而在其他常染色体显性遗传家系中，与该染色体的连锁关系已被排除。我们研究了三个新认识的伴有心脏受累的常染色体显性遗传LGMD家系的58名成员。使用高度多态性微卫星标记进行了筛查。这种新认识的显性形式LGMD的基因定位于1号染色体q11-21区，在θ=0时，两点最大LOD值合并>12。
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