家族性肥厚型心肌病的一个疾病基因座定位于1号染色体1q3。
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.
作者信息
Watkins H, MacRae C, Thierfelder L, Chou Y H, Frenneaux M, McKenna W, Seidman J G, Seidman C E
机构信息
Cardiology Division, Brigham and Women's Hospital, Boston, Massachusetts 02115.
出版信息
Nat Genet. 1993 Apr;3(4):333-7. doi: 10.1038/ng0493-333.
Familial hypertrophic cardiomyopathy (FHC) is caused by missense mutations in the beta cardiac myosin heavy chain (MHC) gene in less than half of affected individuals. To identify the location of another gene involved in this disorder, a large family with FHC not linked to the beta MHC gene was studied. Linkage was detected between the disease in this family and a locus on chromosome 1q3 (maximum multipoint lod score = 8.47). Analyses in other families with FHC not linked to the beta MHC gene, revealed linkage to the chromosome 1 locus in two and excluded linkage in six. Thus mutations in at least three genetic loci can cause FHC. Three sarcomeric contractile proteins--troponin I, tropomyosin and actin--are strong candidate FHC genes at the chromosome 1 locus.
家族性肥厚型心肌病（FHC）在不到半数的患者中是由β心肌肌球蛋白重链（MHC）基因的错义突变引起的。为了确定与该疾病相关的另一个基因的位置，对一个与βMHC基因不连锁的FHC大家族进行了研究。在这个家族的疾病与1号染色体q3上的一个位点之间检测到连锁关系（最大多点lod分数 = 8.47）。对其他与βMHC基因不连锁的FHC家族进行分析，发现两个家族与1号染色体位点连锁，六个家族排除了连锁关系。因此，至少三个基因位点的突变可导致FHC。三种肌节收缩蛋白——肌钙蛋白I、原肌球蛋白和肌动蛋白——是1号染色体位点上FHC基因的有力候选者。
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