伴有预激综合征的家族性肥厚型心肌病定位于7号染色体长臂3区的一个基因座。
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
作者信息
MacRae C A, Ghaisas N, Kass S, Donnelly S, Basson C T, Watkins H C, Anan R, Thierfelder L H, McGarry K, Rowland E
机构信息
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
出版信息
J Clin Invest. 1995 Sep;96(3):1216-20. doi: 10.1172/JCI118154.
Abstract
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) 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.
摘要
我们已将一个在一个大家系中分离的沃尔夫-帕金森-怀特综合征（WPW）和家族性肥厚型心肌病（FHC）的疾病位点定位到7号染色体q3带。尽管先前的研究在同一家族成员中观察到了WPW综合征和FHC，但这两种疾病之间的关系仍然不明。我们研究了一个有25名存活个体的大家庭，这些个体受这两种疾病中的一种或两种影响。该疾病位点与D7S688、D7S505和D7S483位点紧密连锁（在D7S505处，θ = 0时最大两点LOD值为7.80）。虽然已经描述了四个不同的FHC位点，但这是第一个可能发生突变导致WPW和/或FHC的位点。
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