Scottish frequency of the common G985 mutation in the medium‐chain acyl‐CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS)
- 19 February 1993
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 16 (6) , 991-993
- https://doi.org/10.1007/bf00711516
Abstract
Summary: Medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency, is an autosomal recessive inborn error of metabolism associated with various clinical presentations, including sudden unexplained death in young children. We have determined the Scottish frequency of the common G985 mutation found in Caucasians and in samples from Scottish patients with sudden infant death syndrome (SIDS). The heterozygote frequency of the mutation was found to be 1 in 276 (95% confidence interval: 1/76–1/2279) in 552 healthy controls and 1 in 74 (95% confidence interval: 1/27–1/377) in 233 SIDS patients: a difference that was not statistically significant (Fisher's exact test; two‐sided;p=0.316). None of the SIDS samples was found to be homozygous for the G985 mutation.Keywords
This publication has 10 references indexed in Scilit:
- Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) geneHuman Mutation, 1992
- Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.1991
- Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cardsThe Lancet, 1991
- The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the geneHuman Genetics, 1991
- Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coliHuman Genetics, 1991
- Frequency of the G985 MCAD mutation in the general populationThe Lancet, 1991
- GUTHRIE SPOTS FOR DNA-BASED CARRIER TESTING IN CYSTIC FIBROSISThe Lancet, 1988
- Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.Proceedings of the National Academy of Sciences, 1987
- Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.Proceedings of the National Academy of Sciences, 1986