Adenosine deaminase polymorphisms at the protein and DNA levels

Hum Biol. 1999 Dec;71(6):1009-13.

Abstract

Adenosine deaminase (ADA, E.C. 3.5.4.4) exhibits a well-known polymorphism at the protein level. We have studied ADA and an STR polymorphism exhibiting variation of a TTTA repeat motif at intron 3 of the ADA gene in random samples from northern Portugal (N = 218) and southwestern Germany (N = 114). The ADA phenotype distribution and population data on the worldwide distribution of ADA favor recurrent mutation as an explanation for the maintenance of the ADA*2 gene product at polymorphic frequencies.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Genetic Heterogeneity
  • Genetic Markers / genetics*
  • Genetic Variation / genetics*
  • Germany
  • Haplotypes
  • Humans
  • Introns / genetics*
  • Microsatellite Repeats / genetics*
  • Mutation / genetics
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Portugal

Substances

  • Genetic Markers
  • Adenosine Deaminase