Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene
| Autor: | Naonobu Futamura, Tetsuya Takayanagi, Ryusuke Matsumura, Makito Hirano, Satoshi Ueno, K Murata |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Restriction Mapping Biology medicine.disease_cause Asian People Japan mental disorders Genetics medicine Humans Allele Gene Alleles Genetics (clinical) Repetitive Sequences Nucleic Acid Chromosomes Human Pair 14 Mutation Polymorphism Genetic Chromosome Machado-Joseph Disease medicine.disease Control subjects nervous system diseases Nucleic Acid Conformation Microsatellite Trinucleotide repeat expansion Machado–Joseph disease |
| Zdroj: | Human Genetics. 98:643-645 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050276 |
| Popis: | The mutation responsible for Machado-Joseph disease (MJD) has been identified as an expansion of a CAG trinucleotide repeat in a novel gene on chromosome 14q32.1. The CAG repeat tract is followed by C or G, and alleles are thereby divided into two types on the basis of molecular configuration, (CAG)nC and (CAG)nG. We have studied the relationship between the repeat length and the configuration in 38 patients from 28 Japanese families with MJD, and 31 unrelated normal Japanese subjects. The CAG repeat length in 100 normal alleles ranged from 13 to 37 repeats, while 38 MJD patients had one expanded allele with 64 to 84 repeats. Surprisingly, the expanded alleles had exclusively the (CAG)nC configuration, while both (CAG)nC and (CAG)nG were seen in normal alleles from MJD and control subjects. Furthermore, in normal alleles, the CAG repeat tract was significantly longer in (CAG)nC than in (CAG)nG. These findings suggest that the (CAG)nC configuration is related to repeat instability of the MJD gene. |
| Databáze: | OpenAIRE |
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