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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

Authors :
Eliot L. Berson
Cynthia C. Morton
Ivana Magovcevic
Shao-Ling Fong
Stanislawa Weremowicz
Thaddeus P. Dryja
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.

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