Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease

Journal Article · Fri Sep 20 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO;2-H· OSTI ID:539224

Endo, Kotaro; Tanaka, Hajime; Saito, Masaaki ^[1]

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1. Niigata Univ. (Japan); and others

To identify the markers tightly linked to Machado-Joseph disease (MJD) and to investigate whether a limited number of ancestral chromosomes are shared by Japanese MJD pedigrees, a detailed linkage analysis employing D14S55, D14S48, D14S67, D14S291, D14S280, AFM343vf1, D14S81, D14S265, D14S62, and D14S65 was performed. The results of multipoint linkage analysis as well as detection of critical recombination events indicate that the gene for MJD is localized in a 4-cM region between D14S280-D14S81. We found strong linkage disequilibria at AFM343vf1 and D14S81, and association of a few common haplotypes with MJD. These results indicate that there is an obvious founder effect in Japanese MJD and suggest the possibility of the existence of predisposing haplotypes which are prone to expansions of CAG repeats. 47 refs., 3 figs., 2 tabs.

• OSTI ID: 539224
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 5 Vol. 67; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
GENE RECOMBINATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
JAPAN
L CODES
MUTATIONS
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
PATIENTS
RESOLUTION
STATISTICS