常染色体显性“纯合”遗传性痉挛性截瘫的一个基因座定位于19号染色体长臂1区3带。
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
作者信息
Reid E, Dearlove A M, Osborn O, Rogers M T, Rubinsztein D C
机构信息
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
出版信息
Am J Hum Genet. 2000 Feb;66(2):728-32. doi: 10.1086/302783.
Abstract
Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have 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.
摘要
常染色体显性遗传性单纯性痉挛性截瘫（ADPHSP）的基因座已被定位于2号染色体短臂、8号染色体长臂、12号染色体长臂、14号染色体长臂和15号染色体长臂。我们对一个患有ADPHSP的大家庭进行了全基因组连锁筛查，此前在所有已确定的ADPHSP基因座上均未发现连锁关系。对19号染色体长臂上的标记进行分析，在D19S420处获得了3.72的最高成对LOD分数，从而将一个新的ADPHSP基因座（我们称之为“SPG12”）定位到该区域。单倍型构建和重组事件分析将SPG12基因座缩小到标记D19S868和D19S902之间16.1厘摩的区域。
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