title: Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
abstract: The human methylmalonyl CoA mutase (MCM) cDNA has been used to localize the MUT locus on the short arm of chromosome 6 proximal to the glyoxalase locus in 6p deletion cell lines. A HindIII polymorphism identified by the MCM cDNA was used to study linkage relationships of MUT to HLA (A-B-DQ-DR) and D6S4 in the reference CEPH families. The maximum lod score for MUT versus HLA was 3.04 at a recombination fraction of 0.28. The maximum lod score for MUT versus D6S4 was 22.93 at a recombination fraction of 0.01. These data suggest that MUT and D6S4 loci are tightly linked and may be used as one locus in a haplotype form for linkage studies on proximal 6p and diagnostic analysis of pedigrees with mut methylmalonic acidemia.
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
authors.forename: W E
authors.initials: WE
authors.lastname: O'Brien
authors.forename: F D
authors.initials: FD
authors.lastname: Ledley
mesh_terms: D002460:Cell Line; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007535:Isomerases / Q000235:genetics*; D008297:Male; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D006680:HLA Antigens; D007535:Isomerases; D008765:Methylmalonyl-CoA Mutase