另一个来自西藏的纯合常染色体显性遗传性痉挛性截瘫（AD-FSP）家系，其基因定位于14q11.2-q24.3。

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.

作者信息

Huang S, Li H, Lo W H, Fischer C, Vogel F

机构信息

Department of Medical Genetics, CAMS, School of Basic Medicine, PUMC, Beijing, China.

出版信息

Hum Genet. 1997 Oct;100(5-6):620-3. doi: 10.1007/s004390050563.

DOI:10.1007/s004390050563

PMID:9341882

Abstract

The mutant in a family with autosomal-dominant spastic paresis in Northern Tibet was mapped by linkage analysis with several microsatellite markers to a gene locus at 14q11.2-q24.3, an area to which a few mutants leading to a condition with similar clinical signs have previously been mapped. The mutant observed in this pedigree probably arose de novo. Gene loci at 2p21-p24 and 15q, which have been found for other pedigrees with dominant spastic paresis, were excluded. The data in this pedigree do not contradict the hypothesis proposed by another group that there might be anticipation.

摘要

通过使用几个微卫星标记进行连锁分析，将西藏北部一个常染色体显性遗传性痉挛性轻瘫家族中的突变基因定位到14q11.2 - q24.3的一个基因座上，此前已有一些导致类似临床症状的突变基因被定位到该区域。在这个家系中观察到的突变可能是新生的。排除了在其他显性遗传性痉挛性轻瘫家系中发现的位于2p21 - p24和15q的基因座。这个家系中的数据并不与另一组提出的可能存在遗传早现的假说相矛盾。