A Los Angeles és Duarte galaktóz-1-foszfát-uridil-transzferáz-variánsok allélgyakorisága a magyar populációban

Abstract

Classical galactosaemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase (GALT), which can be detected by newborn screening. The p.N314D mutation defines two variant forms of the GALT enzyme, the Los Angeles and Duarte, depending on the presence of additional base changes. Aim: The aim of our study was to analyze a healthy Hungarian population for the frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles. Methods: DNA samples from 100 subjects were analyzed by polymerase chain reaction, followed by digestion with restriction endonucleases. Results: The frequencies of the p.N314D, the Los Angeles and the Duarte variants were 11.5%, 2.5% and 9%, respectively. Conclusions: The allele frequencies of the Los Angeles and Duarte variant alleles in the Hungarian population correlate well with the allele frequencies in other healthy Caucasian populations.