In polymorphic genomic regions indels cluster with nucleotide polymorphism: Quantum Genomics

Gene. 2003 Jul 17:312:257-61. doi: 10.1016/s0378-1119(03)00621-8.

Abstract

Previously, we have described polymorphic frozen blocks (PFBs) within the Major Histocompatibility Complex (MHC) as regions of several hundred kilobases characterised by high nucleotide diversity, little or no recombination, duplicated segments, disease susceptibility, and human endogenous retroviruses. The nucleotide diversity profile within these PFBs shows peaks and troughs outside of the Class I genes, reflecting other important genes (or sequences) in the region. Here we show that indel density is also clustered with similar peaks and troughs. In fact, SNPs and indels are co-located within PFBs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Nucleic Acid
  • Gene Frequency
  • Genetic Variation
  • Genome, Human*
  • Humans
  • Major Histocompatibility Complex / genetics
  • Mutagenesis, Insertional
  • Polymorphism, Single Nucleotide*
  • Sequence Deletion