BamHI and MspI RFLP's in strong linkage disequilibrium at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1).

Source/Description: A 1.9 Kb Sall-Hindm fragment containing the entire cDNA clone encoding the human liver ACADM gene (1) subcloned into pGEM-3 (Promega Biotec). Polymorphism: This probe identifies a 2-allele BamHI polymorphism with bands at 10 Kb (allele 2) and 5.5 Kb (allele 1): constant bands are present at > 12 Kb, 7 Kb and 2.8 Kb. In addition a 2-allele Msp polymorphism with bands at 10 Kb (allele 1) and 9 Kb (allele 2) can be identified. Constant bands between 3—6 Kb may be present. Frequency: Estimated from 30 unrelated Caucasians. BamHI allele 1 0.63 allele 2 0.37 Mspl allele 1 0.64 allele 2 0.36 Chromosomal Localisation' The ACADM locus has been asigned to Ip31 (2). Mendelian Inheritance: Co-dominant segregation in a family with 18 individuals. Other Comments: There is very strong linkage disequilibrium between the BamHI allele 2 and Mspl allele 2 RFLPs with a frequency >80%. A high stringency wash (0.1 SSC +0.1% SDS at 65 °C) is required to resolve the Msp constant bands Acknowledgements: We are grateful to A. Strauss and D.P.Kelly for their kind gift of the probe. A.Blakemore is supported by the SERC.