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Mol Genet Metab ; 82(4): 345-7, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15308134

ABSTRACT

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.


Subject(s)
Galactosemias/genetics , Gene Frequency , UTP-Hexose-1-Phosphate Uridylyltransferase/genetics , Alleles , Amino Acid Substitution , Female , Galactosemias/diagnosis , Galactosemias/ethnology , Humans , Ireland , Male , Syndrome , White People/genetics
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