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

J. H. Ding, B. Z. Yang, Y. Bao, C. R. Roe, Y. T. Chen

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)229-233
Number of pages5
JournalAmerican journal of human genetics
Issue number1
StatePublished - 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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