Insertion-deletion polymorphisms (indels) as genetic markers in natural populations

BMC Genet. 2008 Jan 22:9:8. doi: 10.1186/1471-2156-9-8.

Abstract

Background: We introduce the use of short insertion-deletion polymorphisms (indels) for genetic analysis of natural populations.

Results: Sequence reads from light shot-gun sequencing efforts of different dog breeds were aligned to the dog genome reference sequence and gaps corresponding to indels were identified. One hundred candidate markers (4-bp indels) were selected and genotyped in unrelated dogs (n = 7) and wolves (n = 18). Eighty-one and 76 out of 94 could be validated as polymorphic loci in the respective sample. Mean indel heterozygosity in a diverse set of wolves was 19%, and 74% of the loci had a minor allele frequency of >10%. Indels found to be polymorphic in wolves were subsequently genotyped in a highly bottlenecked Scandinavian wolf population. Fifty-one loci turned out to be polymorphic, showing their utility even in a population with low genetic diversity. In this population, individual heterozygosity measured at indel and microsatellite loci were highly correlated.

Conclusion: With an increasing amount of sequence information gathered from non-model organisms, we suggest that indels will come to form an important source of genetic markers, easy and cheap to genotype, for studies of natural populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping
  • Dogs / genetics*
  • Genetic Markers
  • Genotype
  • INDEL Mutation*
  • Polymorphism, Genetic*
  • Species Specificity
  • Wolves / genetics*

Substances

  • Genetic Markers