Prospects of carrier screening of aspartylglucosaminuria in Finland

Eur J Hum Genet. 1993;1(4):296-300. doi: 10.1159/000472427.

Abstract

The frequency of carriers of the AGUFin mutation, the predominant mutation causing aspartylglucosaminuria in Finland, was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGUFin point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGUFin mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGUFin mutation, and can readily be applied in large-scale carrier screening at the population level.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Aspartylglucosylaminase / genetics*
  • Finland
  • Genetic Carrier Screening*
  • Genetic Testing*
  • Humans
  • Infant, Newborn
  • Point Mutation
  • Polymerase Chain Reaction

Substances

  • Aspartylglucosylaminase