Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population.
Anonymous population screening was carried out to detect the N314D, Los Angeles (D1), and Duarte (D2) alleles of the galactose-1-phosphate uridyltransferase gene in Ireland using 743 blood samples, covering the Traveller (n = 243) and non-Traveller (n = 500) population groups. The frequency of the N314D substitution was found to be 0.099 overall. D1 allele frequencies were found to be 0.031 and 0.023 in the Traveller and non-Traveller groups, respectively, while D2 allele frequencies were 0.058 and 0.076, respectively. No significant differences in allele frequency were detected between the Traveller and non-Traveller groups, or between the Irish population groups and the literature values for Northern and Western Europe.
Department of Pathology, The Children's University Hospital, Temple Street, Dublin 1, Ireland.
Orna
O
Tighe
Jonathon M
JM
Flanagan
Fiona
F
Kernan
Charles
C
O'Neill
Eileen
E
Naughten
Philip D
PD
Mayne
David T
DT
Croke
D000483:Alleles; D019943:Amino Acid Substitution; D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007494:Ireland; D008297:Male; D013577:Syndrome; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*; D044465:White People / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase