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| MAPPING OF DNA INSTABILITY AT THE FRAGILE-X TO A TRINUCLEOTIDE REPEAT SEQUENCE P(CCG)N |
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| Author(s): KREMER EJ, PRITCHARD M, LYNCH M, YU S, HOLMAN K, BAKER E, WARREN ST, SCHLESSINGER D, SUTHERLAND GR, RICHARDS RI |
| Source: SCIENCE Volume: 252 Issue: 5013 Pages: 1711-1714 Published: JUN 21 1991 |
| Times Cited: 657 References: 13 |
| Abstract: The sequence of a Pst I restriction fragment was determined that demonstrates instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequences flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro. |
| Document Type: Article |
| Language: English |
Addresses:
1. WASHINGTON UNIV, SCH MED, CTR GENET MED, ST LOUIS, MO 63110 USA
2. EMORY UNIV, SCH MED, DEPT BIOCHEM, ATLANTA, GA 30322 USA
3. EMORY UNIV, SCH MED, DEPT PEDIAT, ATLANTA, GA 30322 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: FT114 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |