Location of the spinal cerebellar ataxia 2 locus to a 1 cM interval on chromsome 12q23-24.1

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133979

Allotey, R; Twells, R; Orozco, G ^[1]

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1. Imperial College, London (United Kingdom); and others

Spinocerebellar ataxia 2 (SCA2) is a dominantly inherited neurodegenerative disorder characterised by progressive ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have previously assigned the disease locus to chromosome 12q23-24.1 in a population from the Holguin province, Cuba, within a 31 cM interval flanked by the anonymous marker D12S53 and the phospholipase A2 gene (PLA2). Clinical as much as genealogical and geographical evidence indicate that the Cuban pedigrees are homogeneous and descend from a common ancestor. We now report fine genetic mapping of the disease locus with fourteen microsatellite loci known to span this region, which positions SCA2 in a 1 cM interval defined by the loci D12S84-AFM291xe9. Observation of a common haplotype segregating with the disease supports the existence of a founder effect in the Holguin pedigrees.

• OSTI ID: 133979
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CUBA
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
NERVOUS SYSTEM DISEASES
PATIENTS