Quantitative PCR technique for the identification of microrearrangements of the AZFc region.

ABSTRACT:

Purpose

The AZFc region spans about 3.5 Mb and contains many amplicons causing recombination events. Several papers have reported the occurrence of AZFc partial deletions resulting from non allelic homologous recombination (NAHR) ("gr-gr", "b1-b3" or "b2-b3" deletions), particularly in infertile patients. DAZ genes are present in 4 copies and rearrangements involve a modification of the number of DAZ genes.

Methods

In addition to STS plus/minus PCR, we developed a quantitative technique using real time PCR (Q-PCR) to determine the number of DAZ genes. Fourteen DNA controls were selected to validate the use of Q-PCR to detect AZFc microrearrangements, and sperm DNA samples from 30 fertile men were studied.

Results

Rearrangements of 14 controls were well identified with

SUBMITTER: Roze V 

PROVIDER: S-EPMC3454972 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature