Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
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.
Zoghbi
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Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
O'Brien
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Ledley
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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
D006680:HLA Antigens; D007535:Isomerases; D008765:Methylmalonyl-CoA Mutase