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| MYOTONIC-DYSTROPHY MUTATION - AN UNSTABLE CTG REPEAT IN THE 3' UNTRANSLATED REGION OF THE GENE |
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| Author(s): MAHADEVAN M, TSILFIDIS C, SABOURIN L, SHUTLER G, AMEMIYA C, JANSEN G, NEVILLE C, NARANG M, BARCELO J, OHOY K, LEBLOND S, EARLEMACDONALD J, DEJONG PJ, WIERINGA B, KORNELUK RG |
| Source: SCIENCE Volume: 255 Issue: 5049 Pages: 1253-1255 Published: MAR 6 1992 |
| Times Cited: 874 References: 15 |
| Abstract: Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes that map to a 10-kilobase Eco RI genomic fragment from human chromosome 19q13.3 have been used to detect a variable length polymorphism in individuals with DM. Increases in the size of the allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3' untranslated region of a DM candidate gene. An increase in the severity of the disease in successive generations (genetic anticipation) is accompanied by an increase in the number of trinucleotide repeats. Nearly all cases of DM (98 percent or 253 of 258 individuals) displayed expansion of the CTG repeat region. These results suggest that DM is primarily caused by mutations that generate an amplification of a specific CTG repeat. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV OTTAWA, DEPT MICROBIOL & IMMUNOL, OTTAWA K1H 8L1, ONTARIO CANADA
2. CHILDRENS HOSP EASTERN ONTARIO, RES INST, OTTAWA K1H 8L1, ONTARIO CANADA
3. UNIV CALIF LAWRENCE LIVERMORE NATL LAB, LIVERMORE, CA 94550 USA
4. CATHOLIC UNIV NIJMEGEN, DEPT HUMAN GENET, 6500 HB NIJMEGEN, NETHERLANDS
5. CATHOLIC UNIV NIJMEGEN, DEPT CELL BIOL & HISTOL, 6500 HB NIJMEGEN, NETHERLANDS |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: HG677 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |