Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Mol Genet Metab. 2004 Aug;82(4):345-7. doi: 10.1016/j.ymgme.2004.06.005.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Female
  • Galactosemias / diagnosis
  • Galactosemias / ethnology
  • Galactosemias / genetics*
  • Gene Frequency*
  • Humans
  • Ireland
  • Male
  • Syndrome
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*
  • White People / genetics

Substances

  • UTP-Hexose-1-Phosphate Uridylyltransferase