隐性家族性肌萎缩侧索硬化症与2号染色体q33-q35区域的连锁关系。

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

作者信息

Hentati A, Bejaoui K, Pericak-Vance M A, Hentati F, Speer M C, Hung W Y, Figlewicz D A, Haines J, Rimmler J, Ben Hamida C

机构信息

Department of Neurology, Northwestern University Institute of Neuroscience, Chicago, Illinois 60611.

出版信息

Nat Genet. 1994 Jul;7(3):425-8. doi: 10.1038/ng0794-425.

DOI:10.1038/ng0794-425

PMID:7920663

Abstract

Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described--autosomal dominant forms (ALS1, ALS3), clinically indistinguishable from the sporadic form, and autosomal recessive forms with early onset and slower progression of symptoms (ALS2). To localize the gene for one of the autosomal recessive forms of ALS, we applied linkage analysis to a large inbred family from Tunisia. A lod score maximum of Zmax = 8.2 at theta = 0.00 was obtained with marker D2S72 located on chromosome 2q33-q35. The fine mapping of this region suggested that the ALS2 locus lies in the 8 cM segment flanked by D2S155 and D2S115.

摘要

肌萎缩侧索硬化症（ALS）通常表现为运动神经元的散发性疾病。然而，也有家族性ALS的报道——常染色体显性形式（ALS1、ALS3），临床上与散发性形式难以区分，以及常染色体隐性形式，其症状起病早且进展缓慢（ALS2）。为了定位常染色体隐性形式ALS之一的基因，我们对来自突尼斯的一个大型近亲家族进行了连锁分析。在位于2号染色体2q33 - q35的标记D2S72处，在θ = 0.00时获得了最大对数优势分数Zmax = 8.2。该区域的精细定位表明，ALS2基因座位于由D2S155和D2S115侧翼的8厘摩片段内。