Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity in a large English family

Clin Genet. 1993 Jan;43(1):39-43. doi: 10.1111/j.1399-0004.1993.tb04424.x.

Abstract

A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein A-I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. This association was not apparent in a large English family identified through voluntary health screening, and with no evident premature coronary disease. Any association could, however, be masked by sex, or by further undetermined variation affecting Pst-I restriction sites. Analysis of this and other polymorphisms present also led to resolution both of disputed paternity and of a long-standing family feud.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Apolipoprotein A-I / analysis*
  • Apolipoprotein A-I / genetics
  • Cholesterol / blood
  • Cholesterol, HDL / blood
  • Female
  • Humans
  • Male
  • Paternity*
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Tangier Disease / genetics*
  • Triglycerides / blood

Substances

  • Apolipoprotein A-I
  • Cholesterol, HDL
  • Triglycerides
  • Cholesterol