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Mapping of the human cone transducin α-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease
- Source :
- Genomics. 25:288-290
- Publication Year :
- 1995
- Publisher :
- Elsevier BV, 1995.
-
Abstract
- We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.
- Subjects :
- genetic structures
Genetic Linkage
Macromolecular Substances
DNA Mutational Analysis
Molecular Sequence Data
Gene mutation
Biology
medicine.disease_cause
Polymerase Chain Reaction
Macular Degeneration
Gene mapping
Genetics
medicine
Humans
Point Mutation
Transducin
In Situ Hybridization, Fluorescence
DNA Primers
GNAT2
Mutation
Base Sequence
Point mutation
Chromosome Mapping
Single-strand conformation polymorphism
Exons
medicine.disease
Molecular biology
Chromosome Banding
Stargardt disease
Chromosomes, Human, Pair 1
Chromosomal region
Retinal Cone Photoreceptor Cells
Subjects
Details
- ISSN :
- 08887543
- Volume :
- 25
- Database :
- OpenAIRE
- Journal :
- Genomics
- Accession number :
- edsair.doi.dedup.....2f876515cb9d3f3056035fca1c1d8308
- Full Text :
- https://doi.org/10.1016/0888-7543(95)80139-d