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| FRAGILE-X GENOTYPE CHARACTERIZED BY AN UNSTABLE REGION OF DNA |
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| Author(s): YU S, PRITCHARD M, KREMER E, LYNCH M, NANCARROW J, BAKER E, HOLMAN K, MULLEY JC, WARREN ST, SCHLESSINGER D, SUTHERLAND GR, RICHARDS RI |
| Source: SCIENCE Volume: 252 Issue: 5009 Pages: 1179-1181 Published: MAY 24 1991 |
| Times Cited: 588 References: 9 |
| Abstract: DNA sequences have been located at the fragile X site by in situ hybridization and by the mapping of breakpoints in two somatic cell hybrids that were constructed to break at the fragile site. These hybrids were found to have breakpoints in a common 5-kilobase Eco RI restriction fragment. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X genotype individuals, alterations in the mobility of the sequences detected by the probe were found only in fragile X genotype DNA. These sequences were of an increased size in all fragile X individuals and varied within families, indicating that the region was unstable. This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotype. |
| Document Type: Article |
| Language: English |
Addresses:
1. ADELAIDE CHILDRENS HOSP INC, DEPT CYTOGENET & MOLEC GENET, ADELAIDE, SA 5006 AUSTRALIA
2. EMORY UNIV, SCH MED, DEPT BIOCHEM, ATLANTA, GA 30322 USA
3. WASHINGTON UNIV, CTR GENET MED, ST LOUIS, MO 63110 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: FN056 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |