[Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population].
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.


OBJECTIVE
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.
Milánkovics
Ilona
I
Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika, Budapest, Tuzoltó u. 7-9. 1094. milankovics@freemail.hu
Schuler
Agnes
A
Németh
Krisztina
K
Somogyi
Csilla
C
Fekete
György
G
D000328:Adult; D019943:Amino Acid Substitution; D001216:Asparagine; D001224:Aspartic Acid; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*; D044465:White People / Q000235:genetics*
D001224:Aspartic Acid; D001216:Asparagine; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase