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| LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE |
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| Author(s): EICHLER EE, HOLDEN JJA, POPOVICH BW, REISS AL, SNOW K, THIBODEAU SN, RICHARDS CS, WARD PA, NELSON DL |
| Source: NATURE GENETICS Volume: 8 Issue: 1 Pages: 88-94 Published: SEP 1994 |
| Times Cited: 289 References: 41 |
| Abstract: Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3' end. Variation in the length of the repeat appears polar. Alleles containing between 34 and 55 repeats, with documented unstable transmissions, were shown to have lost one or both AGG interruptions. These comparisons define an instability threshold of 34-38 uninterrupted CGG repeats. Analysis of premutation alleles in Fragile X syndrome carriers reveals that 70% of these alleles contain a single AGG interruption. These data suggest that the loss of an AGG is an important mutational event in the generation of unstable alleles predisposed to the Fragile X syndrome. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, CTR HUMAN GENOME, DEPT MOLEC & HUMAN GENET, HOUSTON, TX 77030 USA
2. QUEENS UNIV, DEPT PSYCHIAT, KINGSTON K7L 3N6, ON CANADA
3. ONGWANADA RESOURCE CTR, CYTOGENET & DNA RES LAB, KINGSTON K7L 3N6, ON CANADA
4. OREGON HLTH SCI UNIV, DEPT MED & MOLEC GENET, PORTLAND, OR 97201 USA
5. JOHNS HOPKINS UNIV, SCH MED, DEPT PSYCHIAT, BALTIMORE, MD 21205 USA
6. JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA
7. MAYO CLIN & MAYO FDN, GENET LAB, ROCHESTER, MN 55905 USA
8. JOHNS HOPKINS UNIV, SCH MED, KENNEDY KRIEGER INST, BALTIMORE, MD 21205 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PE157 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |