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| ORIGIN OF THE EXPANSION MUTATION IN MYOTONIC-DYSTROPHY |
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| Author(s): IMBERT G, KRETZ C, JOHNSON K, MANDEL JL |
| Source: NATURE GENETICS Volume: 4 Issue: 1 Pages: 72-76 Published: MAY 1993 |
| Times Cited: 182 References: 33 |
| Abstract: Myotonic dystrophy (DM) is caused by the expansion of a CTG trinucleotide repeat. The mutation is in complete linkage disequilibrium with a nearby two-allele insertion/deletion polymorphism, suggesting a single origin for the mutation or predisposing mutation. To trace this ancestral event, we have studied the association of CTG repeat alleles in a normal population to alleles of the insertion/deletion polymorphism and of a (CA)n repeat marker 90 kilobases from the DM mutation. The results strongly suggest that the initial predisposing event(s) consisted of a transition from a (CTG)5 allele to an allele with 19 to 30 repeats. The heterogeneous class of (CTG)19-30 alleles which has an overall frequency of about 10%, may constitute a reservoir for recurrent DM mutations. |
| Document Type: Article |
| Language: English |
Addresses:
1. FAC MED STRASBOURG, CNRS, GENET MOLEC EUCARYOTES LAB, INSERM, U184, 11 RUE HUMANN, F-67085 STRASBOURG, FRANCE
2. CHRU, F-67085 STRASBOURG, FRANCE
3. CHARING CROSS & WESTMINSTER MED SCH, DEPT ANAT, LONDON W6 8RF, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: LA337 |
| ISSN: 1061-4036 |
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