A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

被引：70

作者：

Reid, E

Dearlove, AM

Rhodes, M

Rubinsztein, DC

机构：

[1] Univ Cambridge, Dept Med Genet, Cambridge, England

[2] MRC, Human Genome Mapping Project Resource Ctr, Cambridge, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1086/302555

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q. We have performed a genome-wide linkage screen on a large family with ADPHSP, in which linkage to all four previously known loci was excluded. Analysis of markers on chromosome 12q gave a peak pairwise LOD score of 3.61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9.2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded.

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页码：757 / 763

页数：7

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