Literature DB >> 1968047

The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic.

J R Kidd1, Y Matsubara, C M Castiglione, K Tanaka, K K Kidd.   

Abstract

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.

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Year:  1990        PMID： 1968047     DOI： 10.1016/0888-7543(90)90451-y

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  5 in total

1.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Authors:  I Yokota; P M Coates; D E Hale; P Rinaldo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

2.  The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.

Authors:  S Kølvraa; N Gregersen; A I Blakemore; A K Schneidermann; V Winter; B S Andresen; D Curtis; P C Engel; D Pricille; W Rhead
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 3.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

4.  Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.

Authors:  D P Kelly; D E Hale; S L Rutledge; M L Ogden; A J Whelan; Z Zhang; A W Strauss
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

Authors:  Z Zhang; S Kolvraa; Y Zhou; D P Kelly; N Gregersen; A W Strauss
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
  5 in total

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