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

被引:17
作者
Huang, SZ
Zhuyu
Li, H
Labu
Baizhu
Lo, WHY
Fischer, C
Vogel, F
机构
[1] PUMC, DEPT MED GENET,INST BASIC MED SCI,CAMS, SCH BASIC MED, BEIJING, PEOPLES R CHINA
[2] NAGQU CHILDREN & WOMEN HOSP, TIBET, PEOPLES R CHINA
[3] SECOND HOSP TIBET AUTONOMOUS REG, TIBET, PEOPLES R CHINA
关键词
Clinical Sign; Microsatellite Marker; Linkage Analysis; Gene Locus; Paraplegia;
D O I
10.1007/s004390050563
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:620 / 623
页数:4
相关论文
共 7 条
[1]  
BECKER PE, 1966, HUMANGENETIK, V5, P314
[2]   Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family [J].
Burger, J ;
Metzke, H ;
Paternotte, C ;
Schilling, F ;
Hazan, J ;
Reis, A .
HUMAN GENETICS, 1996, 98 (03) :371-375
[3]   HEREDITARY SPASTIC PARAPLEGIAS [J].
HARDING, AE .
SEMINARS IN NEUROLOGY, 1993, 13 (04) :333-336
[4]  
JOHNSTON AW, 1962, AM J HUM GENET, V14, P83
[5]  
LATHROP GM, 1984, AM J HUM GENET, V36, P460
[6]  
OTT J, 1986, GENET EPIDEMIOL, P251
[7]  
VOGEL F, 1996, HUMAN GENETICS