Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14

Journal Article · Fri Jul 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6903425

George-Hyslop, P St; McLachlan, D R.C.; Lang, A E; Wherrett, J R; Rogaeva, E; Tsuda, T; Rogaev, E I; Liang, Y; Huterer, J; Kennedy, J ^[1]

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1. Univ. of Toronto (Canada); and others

A locus for Machado-Joseph disease (MJD) has recently been mapped to a 30-cM region of chromosome 14q in five pedigrees of Japanese descent. MJD is a clinically pleomorphic neurodegenerative disease that was originally described in subjects of Azorean descent. In light of the nonallelic heterogeneity in other inherited spinocerebellar ataxias, the authors were interested to determine if the MJD phenotype in Japanese and Azorean pedigrees arose from mutations at the same locus. They provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81). They also report molecular evidence for homozygosity at the MJD locus in an MJD-affected subject with severe, early-onset symptoms. These observations confirm the initial report of linkage of MJD to chromosome 14; suggest that MJD in Japanese and Azorean subjects may represent allelic or identical mutations at the same locus; and provide one possible explanation (MJD gene dosage) for the observed phenotypic heterogeneity in this disease. 22 refs., 3 figs., 1 tab.

• OSTI ID: 6903425
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
ETIOLOGY
GENETIC MAPPING
HUMAN CHROMOSOME 14
HUMAN CHROMOSOMES
MAPPING
NERVOUS SYSTEM DISEASES