Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
复制标题
进行性肌阵挛癫痫基因定位于染色体 21q22。
DOI：
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发表时间：
1991
影响因子：
11.1
通讯作者：
A. D. L. Chapelle
中科院分区：
文献类型：
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作者：
A. Lehesjoki;M. Koskiniemi;P. Sistonen;Jinmin Miao;J. Hästbacka;R. Norio;A. D. L. Chapelle
Univerricht-Lundborg型进行性肌阵挛癫痫是临床上定义的进行性肌阵挛癫痫中的一种。它是一种常染色体隐性遗传疾病。潜在的生化缺陷尚不清楚。利用多态性DNA标记对12个家系进行了连锁分析。在第21号染色体远端的三个标记上检测到紧密连锁。基因座BCEI和D21 S154在零重组时给出了最高的阳性比值比（lod）分数，分别为5.49和4.25。第三个位点D21 S112在重组分数为0.034时的lod得分为6.91。没有异质性的证据。多点lod分数计算对一个固定的地图上的三个标记位点得到了最大的四点lod分数为10.08在一个位置的疾病基因在6.0 centimorgan远位点BCEI和0.8 centimorgan近位点D21 S154。由于标记物BCEI和D21 S154先前已通过物理方法定位于21q22.3，我们的研究结果将EMP 1基因位点（用于Unverricht-Lundborg型进行性肌阵挛癫痫）定位于染色体21带q22.3。这一发现提供了一个机会来测试其他几种癫痫表型，特别是所谓的拉姆齐亨特综合征，与同一位点的联系。它也是分离和表征基因及其蛋白质产物的起点。
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal recessive disorder. The underlying biochemical defect is unknown. We used linkage analysis to localize the gene in 12 families with the aid of polymorphic DNA markers. Close linkage was detected with three markers on distal chromosome 21. The loci BCEI and D21S154 gave the highest positive logarithm-of-odds (lod) scores of 5.49 and 4.25, respectively, at zero recombination. The third locus, D21S112, gave a lod score of 6.91 at a recombination fraction of 0.034. There was no evidence of heterogeneity. Multipoint lod scores calculated against a fixed map of the three marker loci gave a maximum four-point lod score of 10.08 at a location of the disease gene at 6.0 centimorgans distal to locus BCEI and 0.8 centimorgan proximal to locus D21S154. As markers BCEI and D21S154 have previously been localized to 21q22.3 by physical methods, our findings place the EMP1 gene locus (for progressive myoclonus epilepsy of the Unverricht-Lundborg type) in chromosome 21 band q22.3. This finding provides an opportunity to test several other epilepsy phenotypes, particularly the so-called Ramsay Hunt syndrome, for linkage to the same locus. It also is a starting point toward isolating and characterizing the gene and its protein product.