Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28
| Autor: | Egbert Bakker, Ben A. Oostra, J. O. Van Hemel, Danielle Majoor-Krakauer, B.A. van Oost, Malgorzata Schmidt, David F. Callen |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities X Chromosome Genetic Carrier Screening Chromosomal fragile site Chromosome Mapping Locus (genetics) Hybrid Cells Biology medicine.disease Pedigree Fragile X syndrome Gene mapping Genetic marker Fragile X Syndrome Prenatal Diagnosis medicine Animals Humans Restriction fragment length polymorphism DNA Probes Polymorphism Restriction Fragment Length Genetics (clinical) X chromosome Recombination Fraction |
| Zdroj: | American Journal of Medical Genetics. 38:332-335 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320380233 |
| Popis: | A new polymorphic DNA marker RN1, defining locus DXS369, was recently isolated. Using different somatic cell hybrids, RN1 was mapped between markers 4D-8 and U6.2. We have narrowed the localization of RN1 to the region between 4D-8 and FRAXA by genetic mapping in fragile X [fra(X)] families. Combined with information from other reports, the following order of loci on Xq27-q28 is suggested: cen-F9-(DXS105-DXS152)-DXS98-DXS369-FRAXA- DXS304-(DXS52-DXS15-F8)-tel. The locus DXS369 is closely linked to FRAXA, with a peak lodscore of 18.5 at a recombination fraction of 0.05. Therefore, RN1 is a useful probe for carrier detection and prenatal diagnosis in fra(X) families. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text