| Project/Area Number |
04454255
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Osaka University |
|---|
Principal Investigator |
MIKI Tetsuro Osaka University Medical School, Associate Professor, 医学部, 講師 (00174003)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
名倉 潤 大阪大学, 医学部附属病院, 医員
|
|---|
| Project Period (FY) |
1992 – 1993
|
| Project Status |
Completed (Fiscal Year 1993)
|
| Budget Amount *help |
¥5,800,000 (Direct Cost: ¥5,800,000)
Fiscal Year 1993: ¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1992: ¥3,500,000 (Direct Cost: ¥3,500,000)
|
|---|
| Keywords | Myotonic Dystrophy / Genetic Analysis / Genetic Disease |
|---|
| Research Abstract |
The gene for myotonic dystrophy (DM) was found to be an expansion of an unstable CTG repeat located in the 3'-UTR of the putative protein kinase gene. In the general population 5-37 copies of therepeat are present, but in DM patients the repeat number varies from 50 up to thousands of copies. We have determined the copy number of the CTG repeat and made a haplotype using the closely linked markers to the CTG repeat in 93 Japanese DM families. The normal allele from the Japanese and Caucasian populations have qualitatively the same association of the CTG repeat and the Alu insertion/deletion polymorphism. The absolute linkage disequilibrium was observed in patients from both populations, between the DM gene and the linked markers. These data strongly suggest a common origin of Caucasian and Japanese DM alleles. The genetic analysis of apparently sporadic occurrence of DM in a family in whinch two asymptomatic members have been shown to have a number of repeats corresponding to premutation alleles, 44 and 46 CTG alleles. These data strongly suggest that (CTG)19-37 may act as a predisposing allele for successive DM generations and that there is a premutation allele for DM, as predicted in a mulistep model for etiology of this disorder.
|
