部分性癫痫相关基因定位于10号染色体长臂。
Localization of a gene for partial epilepsy to chromosome 10q.
作者信息
Ottman R, Risch N, Hauser W A, Pedley T A, Lee J H, Barker-Cummings C, Lustenberger A, Nagle K J, Lee K S, Scheuer M L
机构信息
G. H. Sergievsky Center, School of Public Health, Columbia University, New York, New York 10032, USA.
出版信息
Nat Genet. 1995 May;10(1):56-60. doi: 10.1038/ng0595-56.
Abstract
There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed that this genetic contribution is limited to 'generalized' epilepsies, and that most forms of 'partial' epilepsy are nongenetic. In a linkage analysis of a single family containing 11 affected individuals, we obtained strong evidence for localization of a gene for partial epilepsy. This susceptibility gene maps to chromosome 10q, with a maximum two-point lod score for D10S192 of 3.99 at theta = 0.0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum lod score for this haplotype is 4.83 at theta = 0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.
摘要
有充分证据表明基因对癫痫有影响，但通常认为这种基因影响仅限于“全身性”癫痫，而大多数“局灶性”癫痫形式是非遗传性的。在对一个包含11名患病个体的单一家系进行的连锁分析中，我们获得了局灶性癫痫基因定位的有力证据。这个易感基因定位于10号染色体长臂，在θ=0.0时，D10S192的最大两点连锁值为3.99。所有患病个体共享七个紧密连锁的相邻标记的单倍型；在θ=0.0时，该单倍型的最大连锁值为4.83。关键重组体将易感基因座定位在10厘摩的区间内。
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