MAPPING OF THE HUMAN CONE TRANSDUCIN ALPHA-SUBUNIT (GNAT2) GENE TO 1P13 AND NEGATIVE MUTATION ANALYSIS IN PATIENTS WITH STARGARDT DISEASE

We report localization of the human cone transducin (GNATS) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The r ecent assignment of a gene for Stargardt disease to the same chromosom al region by linkage analysis prompted us to investigate the possible role of GNATS in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNATS gen e using polymerase chain reaction-single strand conformation polymorph ism analysis (SSCP) and direct sequencing. No disease-specific mutatio ns were found, indicating that GNATS is probably not involved in the p athogenesis of most cases of Stargardt disease. (C) 1995 Academic Pres s, Inc.