A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.
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Tenkanen H, Koskinen P, Metso J, Baumann M, Lukka M, Kauppinen-Makelin R, Kontula K, Taskinen MR, Manttari M, Manninen V, et al.
A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.
Biochim Biophys Acta. 1992 Jan 16;1138(1):27-33.
- PubMed ID
- 1737067 [ View in PubMed]
- Abstract
We have identified a hitherto unknown genetic polymorphism of apolipoprotein A-IV (apoA-IV). The molecular basis for this polymorphism is an A to G substitution at nucleotide 1687 resulting in an Asn to Ser change of amino acid 127. The frequencies of the two apoA-IV alleles (designated apoA-IV127Asn and apoA-IV127Ser), determined by Hin c II restriction analysis of PCR amplified exon three of the apoA-IV gene, were 0.788 and 0.212, respectively, in a Finnish population sample. Allele frequencies of another polymorphism due to a Thr to Ser substitution at amino acid 347 were determined using Hinf I restriction analysis. The allele frequencies were 0.823 for apoA-IV347Thr and 0.177 for apoA-IV347Ser. None of the apoA-IV polymorphisms (apoA-IV127:Asn----Ser, apoA-IV347:Thr----Ser and apoA-IV360:Gln----His) had any effect on plasma lipid and lipoprotein concentrations in cohorts of dyslipidemic men and in a population sample of normolipidemic controls. There was also no association between the history of previous myocardial infarction and any of the apoA-IV alleles.