Mapping of the human cone transducin {alpha}-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

Journal Article · Sun Jan 01 00:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80139-D· OSTI ID:241092

Magovcevic, I; Weremowicz, S; Morton, C C ^[1]

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1. Harvad Medical School, Boston, MA (United States); and others

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.

• OSTI ID: 241092
• Journal Information: Genomics, Vol. 25, Issue 1; Other Information: PBD: 1 Jan 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
GENETIC MAPPING
GENE MUTATIONS
DNA SEQUENCING
HUMAN CHROMOSOME 1
HEREDITARY DISEASES
STATISTICS
FLUORESCENCE
DNA HYBRIDIZATION
POLYMERASE CHAIN REACTION