Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

ABSTRACT:

Background

The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, TDR) that results from aberrant recombination at meiosis between region specific low-copy repeats (LCRs).

Methods

As a first step towards the characterization of recombination rates and breakpoints within the 22q11.2 region we have constructed a high resolution recombination breakpoint map based on pedigree analysis and a population-based historical recombination map based on LD analysis.

Results

Our pedigree map allows the location of recombination breakpoints with a high resolution (potential recombination hotspots), and this approach has led to the i

SUBMITTER: Torres-Juan L 

PROVIDER: S-EPMC1855045 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature