THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI

被引：31
作者：
JODICE, C
FRONTALI, M
PERSICHETTI, F
NOVELLETTO, A
PANDOLFO, M
SPADARO, M
GIUNTI, P
SCHINAIA, G
LULLI, P
MALASPINA, P
PLASMATI, R
TOLA, R
ANTONELLI, A
DIDONATO, S
MOROCUTTI, C
WEISSENBACH, J
CANN, HM
TERRENATO, L
机构：
[1] UNIV TOR VERGATA,DIPARTIMENTO BIOL,I-00173 ROME,ITALY
[2] OSPED BELLARIA,I-40100 BOLOGNA,ITALY
[3] IST NAZL NEUROL C BESTA,I-20100 MILAN,ITALY
[4] UNIV ROMA LA SAPIENZA,IST CLIN MALATTIE NERVOSE & MENTALI,I-00185 ROME,ITALY
[5] UNIV ROMA LA SAPIENZA,DIPARTIMENTO MED SPERIMENTALE,I-00185 ROME,ITALY
[6] UNIV FERRARA,IST CLIN NEUROL,I-44100 FERRARA,ITALY
[7] GENETHON,F-91002 EVRY,FRANCE
[8] CTR ETUD POLYMORPHISME HUMAINE,F-75010 PARIS,FRANCE
[9] CNR,IST MED SPERIMENTALE,I-00137 ROME,ITALY
来源：
HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 09期
关键词：
D O I：
10.1093/hmg/2.9.1383
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：
The gene for one form of autosomal dominant spinal cerebellar ataxia (SCA1), is mapped by linkage to chromosome 6p, very close to the microsatellite locus D6S89. Eight large Italian kindreds segregating SCA1, as defined by very close linkage to D6S89, were genotyped with five microsatellite markers linked closely to D6S89, all mapping within a 6 cM interval on 6p. Multipoint linkage analysis and haplotypes from recombinants map SCA1 between two of these markers, D6S274 and D6S259, 5 - 6 cM apart. A single rare four marker haplotype within this interval shows linkage disequilibrium with the disease locus in southern Italy and is transmitted with SCA1 in five kindreds originating from this area.
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页码：1383 / 1387
页数：5
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