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.

引用

页码：728 / 732

页数：5

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