Progress in positional cloning of the Rieger syndrome gene
- Univ. of Iowa, Iowa City, IA (United States); and others
We are continuing our efforts towards positional cloning of the Rieger syndrome gene, an autosomal dominant disorder of ocular and dental malformations. Previous linkage localizations allowed us to focus on the long arm of chromosome 4 and led to the identification of two apparently balanced translocations with breakpoints at 4q26 and involving, as reciprocal chromosomes, 11 and 16. We have used permanent cell lines to establish a panel of somatic cell hybrids created from these translocations to allow for fine structure PCR-based mapping of STS markers in this region. In pre-existing, high-odds genetic maps, a framework of markers lying on either side of each translocation has been identified and markers closest to and flanking the breakpoint used to identify YACs from the commercially available CEPH YAC libraries. End clones of YACs have been identified and STS walking is now in progress in attempts to cross the breakpoint(s) involving these two balanced translocations. Somatic cell hybrids allow for a new set of reagents to fine structure map in the vicinity of bands 4q25-q26 and provide the resource for identification of breakpoints resulting in the Rieger`s phenotype under the hypothesis that the relevant gene has been disrupted or inactivated.
- OSTI ID:
- 134436
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Isolation of a yeast artificial chromosome spanning the 8; 21 translocation breakpoint t(8; 21)(q22; q22. 3) in acute myelogenous leukemia
A case of de novo reciprocal translocation t(1;4)(q21;25) associated with Rieger syndrome
Related Subjects
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA-CLONING
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
HYBRIDIZATION
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
SENSE ORGANS DISEASES
SOMATIC CELLS
YEASTS