Are the SSTR alleles stable enough to be considered monophyletic and hence reliable anthropogenetic markers? Linkage disequilibrium study on the (ACT)n COL1A2 SSTR

Hum Biol. 1995 Oct;67(5):703-15.

Abstract

An extremely low production rate of a polymorphic allele (formally called the mutation rate)--a prerequisite for using the allele as a marker (particularly for anthropogenetic purposes where the alleles must be assumed to be monophyletic)--cannot be taken for granted for alleles of highly polymorphic VNTRs, but a low production rate can be used to identify alleles produced by a single nucleotide substitution. This property was indirectly tested for the (ACT)n COL1A2 (of type I collagen) microsatellite SSTR (degree of heterozygosity H = 0.72) by searching for linkage disequilibria between the SSTR's four common alleles (n = 6, 8, 9, or 10) and three RFLPs of the same gene. A strong linkage disequilibrium between at least three of the four SSTR alleles and two of the three closely linked RFLPs has been demonstrated in a Sardinian population (Italy), a finding that suggests a low production rate of these alleles. Thus it seems that this highly polymorphic system and, by a reasonable extrapolation, other VNTRs with a comparable degree of heterozygosity may be valuable anthropogenetic markers, at least in distinguishing subgroups of a major ethnic group.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Child, Preschool
  • Female
  • Gene Expression
  • Gene Frequency*
  • Genetic Markers* / physiology
  • Haplotypes / genetics*
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid*

Substances

  • Genetic Markers