LINKAGE OF PURE AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME-8 MARKERS AND EVIDENCE OF GENETIC-LOCUS HETEROGENEITY

被引：113
|
作者：
HENTATI, A
PERICAKVANCE, MA
HUNG, WY
BELAL, S
LAING, N
BOUSTANY, RM
HENTATI, F
HAMIDA, MB
SIDDIQUE, T
机构：
[1] NORTHWESTERN UNIV,SCH MED,DEPT NEUROL,CHICAGO,IL 60611
[2] INST NATL NEUROL,TUNIS,TUNISIA
[3] DUKE UNIV,MED CTR,DIV NEUROL,DURHAM,NC 27710
[4] QUEEN ELIZABETH II MED CTR,NEDLANDS,WA,AUSTRALIA
[5] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710
[6] NORTHWESTERN UNIV,SCH MED,INST NEUROSCI,CHICAGO,IL 60611
[7] NORTHWESTERN UNIV,SCH MED,DEPT CELL MOLEC & STRUCT BIOL,CHICAGO,IL 60611
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 08期
关键词：
D O I：
10.1093/hmg/3.8.1263
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.
引用
收藏
页码：1263 / 1267
页数：5
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