Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds

Journal Article · Wed Jun 01 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1327· OSTI ID:250059

Sequeiros, J; Burlet, P; Coutinho, P ^[1]

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1. Univ. Porto (Portugal)

Machado-Joseph disease (MJD) is a dominant multisystem degeneration found mostly among Azoreans and characterized by the adulthood onset of cerebellar, ocular, pyramidal, extrapyramidal, and/or peripheral signs. MJD has been recorded in many other populations, particularly in the United States and Japan. Using the microsatellite DNA polymorphisms (STRPs) D14S53, D14S55, D14S48, and D14S45, the authors found significantly positively lod scores in 16 Portugese kindreds, suggesting that the MJD locus is linked to chromosome 14q in this population. Differences in age-at-onset and many untyped individuals seem to explain the lower lod scores. Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported. 16 refs., 2 tabs.

• OSTI ID: 250059
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 21; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
99 GENERAL AND MISCELLANEOUS
CENTRAL NERVOUS SYSTEM
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
PROGRAMMING