MISSENSE MUTATION OF THE BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE IN HYPERTROPHIC CARDIOMYOPATHY

被引:20
作者
ARAI, S
MATSUOKA, R
HIRAYAMA, K
SAKURAI, H
TAMURA, M
OZAWA, T
KIMURA, M
IMAMURA, S
FURUTANI, Y
JOHO, K
KAWANA, M
TAKAO, A
HOSODA, S
MOMMA, K
机构
[1] TOKYO WOMENS MED COLL,HEART INST JAPAN,DEPT PEDIAT CARDIOL,SHINJUKU KU,TOKYO 162,JAPAN
[2] AOYAMA HOSP,TOKYO,JAPAN
[3] SUZUKA UNIV MED SCI & TECHNOL,TOKYO WOMENS MED COLL,TOKYO,JAPAN
[4] KYUSHU WELF PENS HOSP,DEPT PEDIAT,TOKYO,JAPAN
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 03期
关键词
MYOSIN HEAVY-CHAIN GENES; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; POLYMERASE CHAIN REACTION; HYPERTROPHIC CARDIOMYOPATHY;
D O I
10.1002/ajmg.1320580314
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. We describe a missense mutation of the beta-cardiac myosin heavy chain (MHC) gene, a G to T transversion (741 Gly-->Trp) identified by direct sequencing of exon 20 in four individuals affected with familial hypertrophic cardiomyopathy. Three individuals with sporadic hypertrophic cardiomyopathy, whose parents are clinically and genetically unaffected, had sequence variations of exon 34 of the alpha-cardiac MHC gene (a G to T transversion, 1658 Asp-->Asp, resulting in FokI site polymorphism), of intron 33 of the alpha-cardiac MHC gene (a G to A and an A to T transversion), and also of intron 14 of the beta-cardiac MHC gene (a C to T transversion in a patient with Noonan syndrome). Including our case, 30 missense mutations of the beta-cardiac MHC gene in 49 families have been reported thus far worldwide. Almost all are located in the region of the gene coding for the globular head of the molecule, and only one mutation was found in both Caucasian and Japanese families. Missense mutations of the beta-cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:267 / 276
页数:10
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