Adenosine deaminase polymorphisms at the protein and DNA levels

From: Human Biology | Date: December 1, 1999| Author: | Copyright information

Abstract Adenosine deaminase (ADA, E.C. 3.5.4.4) exhibits a wellknown 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.

KEY WORDS: ADENOSINE DEAMINASE, LINKAGE, POPULATION GENETICS, PORTUGAL, GERMANY

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