1994 Fiscal Year Final Research Report Summary

Analysis of the qene for Machado-Joseph disease

Research Project

Project/Area Number	05454261
Research Category	Grant-in-Aid for General Scientific Research (B)
Allocation Type	Single-year Grants
Research Field	Neurology
Research Institution	Jichi Medical School
Principal Investigator	NISHIZAWA Masatoyo Jichi Medical School, 医学部, 助教授 (80198457)
Co-Investigator(Kenkyū-buntansha)	KAWASHIMA Shingo Jichi Medical School, 医学部, 助手 (30254915)
Project Period (FY)	1993 – 1994
Keywords	Machado-Joseph disease / chromosome 14 / molecular genetics / triplet repeat / anticipation / gene analysis
Research Abstract	Machado-Joseph disease (MJD) is one of the most common forms of spinocerebellar degeneration with autosomal dominant inheritance in Japan. We mapped the gene locus for MJD to the long arm of chromosome 14q (14q24.3-32.1) by systematic genetic linkage analysis using highly polymorphic microsatellite DNA markers. MJD found in Portuguese-Azorean descent was also tightly linked to the same DNA markers. The gene for MJD,MJD1, was identified from cDNA libraries as the one expressed in the CNS and showing abnormal expansion of CAG repeat by researchers in Kyoto University. We confirmed thier result and showed that the number of CAG repeat in MJD1 gene is associated with genetic anticipation, paternal bias, and the clinical phenotypes of Japanese MJD.

(4 results)