FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME MAPS TO A LOCUS ON CHROMOSOME 7Q3

被引:129
作者
MACRAE, CA
GHAISAS, N
KASS, S
DONNELLY, S
BASSON, CT
WATKINS, HC
ANAN, R
THIERFELDER, LH
MCGARRY, K
ROWLAND, E
MCKENNA, WJ
SEIDMAN, JG
SEIDMAN, CE
机构
[1] HARVARD UNIV,SCH MED,HOWARD HUGHES MED INST,BOSTON,MA 02115
[2] ST GEORGE HOSP,SCH MED,DEPT CARDIOL SCI,LONDON SW17 0RE,ENGLAND
[3] OUR LADYS HOSP,NAVAN,IRELAND
[4] HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV CARDIOL,BOSTON,MA 02115
基金
英国惠康基金;
关键词
CARDIOMYOPATHY; HYPERTROPHIC; HYPERTROPHY; WOLFF-PARKINSON-WHITE SYNDROME; GENETICS; HEART;
D O I
10.1172/JCI118154
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (PHC) segregating in a large kindred to chromosome 7 band q3, Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affected by one or both of these conditions was studied, The disease locus is closely linked to loci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505 was 7.80 at theta = 0), While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC.
引用
收藏
页码:1216 / 1220
页数:5
相关论文
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