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

Jia Huan Ding, Bing Zhi Yang, Yong Bao, Charles R. Roe, Yuan Tsong Chen

Research output: Contribution to journalArticle

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Abstract

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
Pages (from-to)229-233
Number of pages5
JournalAmerican Journal of Human Genetics
Volume50
Issue number1
StatePublished - Jan 1 1992
Externally publishedYes

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Acyl-CoA Dehydrogenase
Mutation
Polymerase Chain Reaction
Complementary DNA
Alleles
Chromosomes, Human, Pair 10
Oligonucleotide Probes
DNA
Heterozygote
Medium chain acyl CoA dehydrogenase deficiency
Nucleotides
Chromosomes
Messenger RNA
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

Identification of a new mutation in medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency. / Ding, Jia Huan; Yang, Bing Zhi; Bao, Yong; Roe, Charles R.; Chen, Yuan Tsong.

In: American Journal of Human Genetics, Vol. 50, No. 1, 01.01.1992, p. 229-233.

Research output: Contribution to journalArticle

Ding, Jia Huan ; Yang, Bing Zhi ; Bao, Yong ; Roe, Charles R. ; Chen, Yuan Tsong. / Identification of a new mutation in medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency. In: American Journal of Human Genetics. 1992 ; Vol. 50, No. 1. pp. 229-233.
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