拉福拉进行性肌阵挛癫痫中的基因座异质性。

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

作者信息

Minassian B A, Sainz J, Serratosa J M, Gee M, Sakamoto L M, Bohlega S, Geoffroy G, Barr C, Scherer S W, Tomiyasu U, Carpenter S, Wigg K, Sanghvi A V, Delgado-Escueta A V

机构信息

Department of Neurology, University of California, Los Angeles School of Medicine, West Los Angeles DVA Medical Center, 90073, USA.

出版信息

Ann Neurol. 1999 Feb;45(2):262-5. doi: 10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9.

DOI:10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9

PMID:9989632

Abstract

In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

摘要

1995年，我们在6号染色体q23 - 25区域定位了一个与拉福拉进行性肌阵挛癫痫相关的基因。1997年和1998年，我们将该基因座的范围缩小至300 kb，并且一个国际合作团队鉴定出蛋白酪氨酸磷酸酶基因中的突变。在此，我们通过对22个家系进行混合测试来检查基因异质性，并估计连锁家系的比例为75%至85%。极低的连锁后验概率（Wi）、排除性对数优势分数和单倍型表明，有4个家系不太可能与6号染色体q24区域连锁。