一个家族性肥厚型心肌病基因座定位于染色体15q2。
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
作者信息
Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W, Bohm K, Noeske G, Schlepper M, Bowcock A
机构信息
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115.
出版信息
Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6270-4. doi: 10.1073/pnas.90.13.6270.
Abstract
We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin, located on chromosome 15q, was analyzed and excluded as a candidate for FHC at this locus. Two additional families with typical FHC were studied and the disorder in one also maps to the chromosome 15q2 locus. The maximum combined multipoint logarithm of odds score in the two linked families is 6.02. Although these two kindreds reside in the same country, we believe that their disorder is caused by independent mutations in the 15q2 locus because of the clinical and genotypic differences between affected individuals. Mutations in at least four loci can cause FHC: chromosomes 14q1 (beta cardiac myosin heavy chain gene), 1q3, and 15q2 and another unidentified locus, suggesting substantial genetic heterogeneity.
摘要
我们报告，在一个有轻度心脏肥大的家族中，一个与家族性肥厚型心肌病（FHC）相关的基因定位于15号染色体q2区。对位于15号染色体q上的编码心肌肌动蛋白的基因进行了分析，并将其排除在该位点FHC的候选基因之外。另外研究了两个典型FHC家族，其中一个家族的疾病也定位于15号染色体q2位点。两个连锁家族中最大的联合多点优势对数得分是6.02。尽管这两个家族居住在同一个国家，但我们认为他们的疾病是由15q2位点的独立突变引起的，因为患病个体之间存在临床和基因型差异。至少四个位点的突变可导致FHC：14号染色体q1（β心肌肌球蛋白重链基因）、1号染色体q3、15号染色体q2以及另一个未确定的位点，提示存在显著的遗传异质性。
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A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.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。
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Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.心肌肌动蛋白（ACTC）基因在15号染色体q臂上的区域定位。
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Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.肥厚型心肌病的临床表型差异与β-肌球蛋白重链基因的两种不同突变相关。一种是908Leu→Val突变，另一种是403Arg→Gln突变。
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