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Scientific article
English

The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva

Published inJournal of inherited metabolic disease, vol. 18, no. 5, p. 577-583
Publication date1995
Abstract

We have determined the frequency of the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in a cohort of 1142 healthy babies born in two Geneva hospitals. Among babies with at least one Swiss parent, heterozygotes were detected at a frequency of 1/52, with a 95% confidence range from 1/82 to 1/38. The high frequency of the carrier state for this mutation suggests that MCAD-deficient babies are born with a frequency of 1/10,000 in the Swiss population. This number is in sharp contrast with the low number of symptomatic MCAD-deficient patients diagnosed in this country. Thus, the fraction of homozygotes who remain asymptomatic is likely to be very high in the Swiss population, and possibly higher than in other countries of northern Europe.

Keywords
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases/ genetics
  • Base Sequence
  • Female
  • Heterozygote Detection
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Switzerland
Affiliation Not a UNIGE publication
Citation (ISO format)
CONNE, Béatrice, ZUFFEREY, R., BELIN, Dominique. The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva. In: Journal of inherited metabolic disease, 1995, vol. 18, n° 5, p. 577–583.
Identifiers
ISSN of the journal0141-8955
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