The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene. Hum Genet 1991 Aug;87(4):425-8
Date
08/01/1991Pubmed ID
1679031DOI
10.1007/BF00197161Scopus ID
2-s2.0-0025781068 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency. The RFLPs were detected after digestion of patient DNA with the enzymes BanII. PstI and TaqI and with an MCAD cDNA-clone as a probe. Of 32 disease-causing alleles studied, 31 possessed the previously published A----G point-mutation at position 985 of the cDNA. This mutation has been shown to result in inactivity of the MCAD enzyme. In at least 30 of the 31 alleles carrying this G985 mutation a specific RFLP haplotype was present. In contrast, the same haplotype was present in only 23% of normal alleles (P less than or equal to 3.4 x 10(-18)). These findings are consistent with the existence of a pronounced founder effect, possibly combined with biological and/or sampling selection.
Author List
Kølvraa S, Gregersen N, Blakemore AI, Schneidermann AK, Winter V, Andresen BS, Curtis D, Engel PC, Pricille D, Rhead WAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acyl-CoA DehydrogenaseAcyl-CoA Dehydrogenases
DNA
Haplotypes
Heterozygote
Homozygote
Humans
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
