Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- Duke Univ., Durham, NC (United States)
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, the authors 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.
- OSTI ID:
- 5377846
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:1; ISSN AJHGA; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
59 BASIC BIOLOGICAL SCIENCES
DISEASES
DNA
DNA SEQUENCING
ENZYMES
ETIOLOGY
GENE AMPLIFICATION
GENE MUTATIONS
GENETIC MAPPING
HEMIACETAL DEHYDROGENASES
HEREDITARY DISEASES
MAPPING
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
OLIGONUCLEOTIDES
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PATIENTS
PROTEINS
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS