A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals

Clin Genet. 1985 Oct;28(4):296-306. doi: 10.1111/j.1399-0004.1985.tb00403.x.

Abstract

We have used a 2.2 kb fragment of the human apolipoprotein AI (apo AI) gene to screen a number of unrelated individuals for common restriction fragment length polymorphisms (RFLPs) of the gene. As well as the previously reported SstI RFLP (allele frequencies in normolipidaemic individuals 0.94 and 0.06) we have detected RFLPs with the enzymes PstI and XmnI (allele frequencies in normolipidaemic individuals 0.88 and 0.12 for both polymorphisms). In the population studied, the RFLPs appear to be in linkage equilibrium and can be used in conjunction as a haplotype, with a PIC value (polymorphism information content) of 0.5. Significant differences in allele frequency were observed between subgroups of hyperlipidaemic patients and normolipidaemic controls. There is no strong population association in our patient group between any allele of the RFLPs studied and hypertriglyceridaemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Apolipoprotein A-I
  • Apolipoproteins A / genetics*
  • Cholesterol, HDL / blood
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Gene Frequency
  • Genes
  • Genetic Linkage
  • Humans
  • Hyperlipidemias / genetics*
  • Polymorphism, Genetic
  • Triglycerides / blood

Substances

  • Apolipoprotein A-I
  • Apolipoproteins A
  • Cholesterol, HDL
  • Triglycerides
  • DNA Restriction Enzymes