Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

Am J Hum Genet. 2006 May;78(5):878-883. doi: 10.1086/503632. Epub 2006 Mar 17.

Abstract

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and sequencing of the junction fragments on 10p11 and 10q21 revealed that neither inversion breakpoint directly involved any genes or repetitive sequences, although both breakpoint regions contain a number of repeats. All 20 apparently unrelated inv(10) families in our study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Centromere
  • Chromosome Breakage*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 10*
  • Cloning, Molecular
  • Cohort Studies
  • Europe
  • Genetic Variation*
  • Haplotypes*
  • Humans
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Mutation
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide