Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands |
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| Authors: | H G de Vries Klary Niezen-Koning J W Kliphuis G Peter A Smit Hans Scheffer L P ten Kate |
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| Institution: | (1) Department of Medical Genetics, University of Groningen, Groningen, The Netherlands, NL;(2) Beatrix Children’s Hospital, University Hospital Groningen, Groningen, The Netherlands, NL;(3) Department of Human Genetics, Free University of Amsterdam, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands Tel.: +31-20-4448269; Fax: +31-20-4448285, NL |
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| 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
Netherlands, 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.
Received: 18 December 1995 / Revised: 14 February 1996 |
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