A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

被引：53
|
作者：
Reid, E
Dearlove, AM
Osborn, O
Rogers, MT
Rubinsztein, DC
机构：
[1] Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 2XY, England
[2] MRC, Human Genome Mapping Project Resource Ctr, Cambridge, England
[3] Univ Wales Coll Cardiff, Inst Med Genet, Cardiff CF1 3NS, S Glam, Wales
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 66卷 / 02期
基金：
英国医学研究理事会;
关键词：
D O I：
10.1086/302783
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) hare been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus ( which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.
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收藏
页码：728 / 732
页数：5
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