Further refinement of the locus for Machado-Joseph disease (MJD) gene

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

OSTI ID:134007

Endo, K ^[1]; Tanaka, H; Takiyama, Y ^[2]

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1. National Sanatorium of Nishi-ojiya Hosp., Niigata (Japan)
2. Niigata Univ. (Japan); and others

Machado-Joseph disease (MJD) is an autosomal dominant, multi-system, neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. We have discovered that the gene for MJD is mapped to chromosome 14q24.3-32.1 in a region of 29 cM between D14S53 and D14S45 using 7 microsatellite DNA markers. To further characterize the candidate region for MJD gene, we analyzed 80 individuals including 35 affected members from 5 Japanese MJD families (3 families are pathologically proven and 2 families are diagnosed based on the clinical manifestations), using 10 new microsatellite DNA markers (D14S76, D14S61, D14S59, D14S67, D14S291, D14S280, D14S81, D14S265, D14S62, and D14S65) in the region defined by previous linkage analysis. High lod scores of 9.227, 3.5207, 9.0320, and 6.7032 were obtained at D14S48, D14S291, D14S280, and D14S81 at recombination fractions of 0.00, 0.05, 0.01, and 0.05, respectively. We have observed recombination events at D14S291 and D14S81 in affected individuals while no recombination events were observed at D14S280. The results indicate that the gene for MJD is likely to be located in the region of 4CM between D14S291 and D14S81. The identification of multiple informative flanking markers should facilitate positional cloning of the gene for MJD.

• OSTI ID: 134007
• 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
DNA-CLONING
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
JAPAN
NERVOUS SYSTEM DISEASES
PATIENTS
STATISTICS