对酒精有反应的伴有肌阵挛性抽搐的家族性肌张力障碍基因并不位于9号染色体长臂的远端。
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.
作者信息
Wahlström J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S
机构信息
Department of Clinical Genetics, East Hospital, Göteborg, Sweden.
出版信息
Clin Genet. 1994 Feb;45(2):88-92. doi: 10.1111/j.1399-0004.1994.tb04000.x.
A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < -2.00 from a two-point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.
在德系犹太人和非犹太人家族中，早发性扭转性肌张力障碍易感性相关基因（DYT1）位于9号染色体q32 - q34区域，在标记AK1和ASS之间跨度为6 - 7厘摩。为确定对酒精有反应的伴有肌阵挛性抽搐的家族性肌张力障碍的遗传是否与该区域的一个基因相符，我们研究了一个瑞典家族的37名成员，其中20人受此影响。使用六个DNA标记进行两点连锁分析，这些标记覆盖了从D9S26到D9S10的30厘摩跨度区域，其中包括DYT基因区域，得到的连锁值小于 - 2.00，这表明该基因不在此区域，并且人类遗传性肌张力障碍由两个或更多常染色体位点负责。
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