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
Language
- eng
Conference Location
- United States