Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families

Journal Article · Sun Jan 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:70388

Sasaki, Hidenao; Ihara, Tatsuo; Wakisaka, Akemi; Takada, Akio; Yoshiki, Takashi ^[1]; Hamada, Takeshi ^[2]; Suzuki, Yoshihiro ^[3]; Iwabuchi, Kiyoshi ^[4]; Onari, Keiko; Tada, Jyoji ^[5]

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1. Hokkaido Univ. School of Medicine, Sapporo (Japan)
2. Hokuyukai Neurological Hospital, Sapporo (Japan)
3. Yamagata Univ. (Japan)
4. Tokyo Institute of Psychiatry (Japan)
5. University of Occupational and Environmental Health, Kitakyusu (Japan); and others

The gene locus of Machado-Joseph disease (MJD) has recently been mapped within a 29-cM subregion of 14q chromosome. We did a linkage study of 24 multigenerational MJD Japanese pedigrees, in an attempt to narrow the candidate region of this gene. Pairwise and multipoint linkage analysis, together with haplotype segregation analysis, led to the conclusion that the MJD gene is located at the 6.8-cM interval between D14S256 and D14S81 (Z{sub max} = 24.78, multipoint linkage analysis). D14S291 and D14S280, located at the center of this interval, showed no obligate recombination with the MJD gene (Z{sub max} = 5.93 for D14S291 and 9.99 for D14S280). A weak, but significant, linkage disequilibrium of MJD gene was noted with D14S81 (P<.05) but not with D14S291 or D14S280. These results suggest that a 3.6-cM interval flanked by D14S291/D14S280 and D14S81 is the most likely location of the MJD gene and that it is closest to D14S81. 33 refs., 4 figs., 6 tabs.

• OSTI ID: 70388
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DOMINANT MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
JAPAN
NERVOUS SYSTEM DISEASES
PATIENTS
STATISTICS