A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
复制标题
家族性肥厚型心肌病基因座定位于染色体 15q2。
DOI：
10.1073/pnas.90.13.6270
复制
发表时间：
1993
影响因子：
11.1
通讯作者：
Bowcock,A
中科院分区：
文献类型：
--
作者：
Thierfelder,L;MacRae,C;Watkins,H;Tomfohrde,J;Williams,M;McKenna,W;Bohm,K;Noeske,G;Schlepper,M;Bowcock,A
我们报告了一个家族性肥厚型心肌病（FHC）的基因，在一个有轻度心脏肥大的家族中，该基因位于染色体15q2。对位于染色体15 q上的编码心脏肌动蛋白的基因进行了分析，并排除了该基因座上FHC的候选基因。研究了另外两个具有典型FHC的家族，其中一个家族的疾病也映射到染色体15q2位点。两个连锁家系的最大联合多点对数优势值为6.02。虽然这两个kinds居住在同一个国家，我们认为，他们的疾病是由15q2位点的独立突变引起的，因为受影响的个人之间的临床和基因型差异。至少四个位点的突变可以引起FHC：染色体14q1（β心肌肌球蛋白重链基因），1q3和15q2以及另一个未鉴定的位点，表明存在显著的遗传异质性。
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.