The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

Carla Jodice, Marina Frontali, Francesca Persichetti, Andrea Novelletto, Massimo Pandolfo, Maria Spadaro, Paola Giunti, Giuseppe Schinaia, Patrizia Lulli, Patrizia Malaspina, Rosaria Plasmati, Rosaria Tola, Antonella Antonelli, Stefano Di Donato, Cristoforo Morocutti, Jean Weissenbach, Howard M. Cann, Luciano Terrenato

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1383-1387
Number of pages5
JournalHuman Molecular Genetics
Volume2
Issue number9
Publication statusPublished - Sep 1993

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

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