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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.

BamHI and Mspl RFLP's in strong linkage disequilibrium at the medium chain acyl-Coenzyme A dehydrogenase locus (ACADM chromsome 1)