Abstract
In order to identify families with premature atherosclerosis due to single gene defects, DNA from about 100 such patients has been screened for mutations in the Apolipoprotein gene cluster ApoA1-ApoC3-ApoA4. One patient, 35 years old with chest pain and low levels of ApoA1 (90 mg/dl), has been found who had an absence of a Taq I restriction site in the third exon (codons 33-34) of the ApoA1 gene.
The abnormal Taq I site was present in his father who also had low ApoA1 levels and myocardial infarction at age 34 and in his younger sister who did not have low levels of ApoA1. DNA polymorphic haplotype analysis for the ApoA1-ApoC3-ApoA4 gene cluster indicated that the sister and the proband had inherited different ApoA1 alleles from their mother who had hyperalphalipoproteinemia, indicating that the sister might have inherited a “hyperalpha” allele from the mother.
Although the exact nucleotide change has not yet been determined, the most common Taq I site mutations involve CG to TG or CA substitutions and in the abnormal ApoA1 gene in this family may lead to nonsense or a missense mutation Arg-GIn at codon 34.
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Ladias, J., Kwiterovich, P., Smith, H. et al. ABNORMAL TAQ I SITE IN THE THIRD EXON OF THE APOA1 GENE IN A FAMILY WITH LOW APOAL LEVELS AND PREMATURE CORONARY ARTERY DISEASE. Pediatr Res 21 (Suppl 4), 291 (1987). https://doi.org/10.1203/00006450-198704010-00744
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DOI: https://doi.org/10.1203/00006450-198704010-00744