Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations

Am J Hum Genet. 1978 Sep;30(5):465-90.


The results of 21,103 electrophoretic typings distributed across 28 polypeptides in members of 12 Amerindian tribes are reported, and the accumulated results of electrophoretic studies on these same polypeptides in 21 Amerindian tribes are then analyzed. Thus far 11 'private' polymorphisms have been identified in these tribes. When the tribal samples are combined and traits achieving polymorphic proportions in the total sample excluded from consideration, the average frequency of rare variants is 2.8 per 1,000 determinations. For a subset of 23 of these polypeptides also studied in Caucasians and Japanese, variant frequencies per 1,000 determinations are: Indians, 2.2; Caucasians (British), 1.6; and Japanese, 1.5. Average locus heterogeneity for these polypeptides (based on rare variants plus polymorphisms) is: Indians, .049; Caucasians, .078; and Japanese, .077. A higher proportion of loci are monomorphic within tribes than within civilized urban populations. It is argued that for inferences concerning the forces maintaining genetic variability within populations, studies on samples from tribespeople are much more appropriate than studies on samples from civilized urban populations.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Blood Proteins / genetics*
  • Enzymes / genetics*
  • Erythrocytes / enzymology
  • Female
  • Genetic Carrier Screening
  • Genetic Variation*
  • Genetics, Population
  • Humans
  • Indians, South American*
  • Male
  • Polymorphism, Genetic*


  • Blood Proteins
  • Enzymes