The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic.
The gene for medium-chain acyl-CoA dehydrogenase (gene symbol ACADM; enzyme symbol MCAD) has been characterized for restriction fragment length polymorphisms (RFLPs) and mapped by linkage analysis to 4.2 cM from D1S2 and 11.7 cM from PGM1. The three RFLP systems described in detail show significant linkage disequilibrium but define four haplotypes with a PIC of 0.58. This makes ACADM informative for linkage mapping and for clinical genetic studies. By linkage studies, the orientation of these three loci relative to the centromere places ACADM most proximal. This is in direct conflict with the regional assignments of ACADM to 1p31 by in situ hybridization and of PGM1 to 1p22.1 by somatic cell studies. We suggest that this somatic cell localization of PGM1 may be incorrect.
Kidd
J R
JR
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
Matsubara
Y
Y
Castiglione
C M
CM
Tanaka
K
K
Kidd
K K
KK
D044944:Acyl-CoA Dehydrogenases / Q000235:genetics*; D000483:Alleles; D015139:Blotting, Southern; D002878:Chromosomes, Human, Pair 1 / Q000032:analysis*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D010641:Phenotype; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D044944:Acyl-CoA Dehydrogenases