Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Journal Article (Journal Article)

A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have detected a new mutation in an MCAD-deficient patient in whom one MCAD allele produces mRNA that is missing 4 bp in the MCAD cDNA, while the other allele carries the A-to-G-985 mutation. The presence of this 4-bp deletion was confirmed in the patient's genomic DNA by dot-blot hybridization with allele-specific oligonucleotide probes and by restriction analysis of PCR products. A rapid screening test for this 4-bp deletion was developed, based on mismatched primer PCR amplification. The deletion created a new restrictive-enzyme site which yielded two DNA fragments. The 4-bp deletion was not found in the three remaining MCAD chromosomes not harboring the A-to-G-985 mutation, nor it was present in 20 chromosomes from 10 unrelated normal Caucasians. The PCR-based method for screening these two mutations can detect over 93% of all MCAD mutations.

Full Text

Duke Authors

Cited Authors

  • Ding, JH; Yang, BZ; Bao, Y; Roe, CR; Chen, YT

Published Date

  • January 1992

Published In

Volume / Issue

  • 50 / 1

Start / End Page

  • 229 - 233

PubMed ID

  • 1729890

Pubmed Central ID

  • PMC1682518

International Standard Serial Number (ISSN)

  • 0002-9297


  • eng

Conference Location

  • United States