Genetic mapping of the spinocerebellar ataxia (SCA2) locus on chromosome 12q23-q24.1

Journal Article · Fri Jan 20 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80043-L· OSTI ID:250157

Hernandez, A; Magarino, C; Gispert, S ^[1]

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1. Univ. Hospital, Duesseldorf (Germany); and others

A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguin SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at {theta} = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguin province. 17 refs., 2 figs., 1 tab.

• OSTI ID: 250157
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 25; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CROSSING-OVER
CUBA
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
NERVOUS SYSTEM DISEASES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RFLPS
STATISTICS
TELOMERES