Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands

H G de Vries, K Niezen-Koning, J W Kliphuis, G P Smit, H Scheffer, L P ten Kate

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18 Citations (Scopus)

Abstract

The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms of MCAD deficiency. The prevalence of carriers varies between different European populations, with high frequencies in the northwestern part of Europe. To determine the prevalence of MCAD carriers with the G985A mutation in The Nether lands, we collected 6195 Guthrie cards of newborns. Mutation detection was performed with the polymerase chain reaction (PCR), in which a NcoI restriction site was created in the presence of a G985A mutation in the PCR product, followed by NcoI digestion, and gel electrophoresis. We detected a G985A carrier frequency of 1 in 59 (95% CI 1/50-1/73) in The Netherlands. The total prevalence of carriers was estimated to be 1 in 55 (95% CI 1/46-1/68), based on a relative G985A frequency of 94% in The Netherlands.

Original languageEnglish
Pages (from-to)1-2
Number of pages2
JournalHUMAN GENETICS
Volume98
Issue number1
Publication statusPublished - Jul-1996

Keywords

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases
  • Gene Frequency
  • Genes, Recessive
  • Genetic Testing
  • Heterozygote
  • Heterozygote Detection
  • Humans
  • Lipid Metabolism, Inborn Errors
  • Mutation
  • Netherlands
  • Gene

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