LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q
LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q
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DOI：
10.1038/ng0595-56
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发表时间：
1995-05-01
期刊：
影响因子：
30.8
通讯作者：
WILHELMSEN, KC
中科院分区：
文献类型：
--
作者：
OTTMAN, R;RISCH, N;WILHELMSEN, KC
有强有力的证据表明遗传对癫痫有影响，但通常认为这种遗传影响仅限于“全身性”癫痫，而大多数形式的“部分性”癫痫是非遗传性的。在一个包含11个受影响个体的单一家族的连锁分析中，我们获得了局部癫痫基因定位的有力证据。该易感基因定位于染色体10q，在θ =0.0时，D10S192的最大2点负载分数为3.99。所有受影响的个体在7个紧密相连的连续标记上共享一个单倍型；在θ =0.0时，该单倍型的最大杆分数为4.83。关键重组将易感位点置于10厘米间隔内。
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 rod score for this haplotype is 4.83 at theta=0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.