Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers.

ABSTRACT:

Background

The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multi-copy male fertility genes located in repeated DNA blocks (amplicons). These AZFc gene families exhibit slight sequence variations between copies which are considered to have functional relevance. Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility.

Results

The amplicon content of partial AZFc deletion products was characterized with novel amplicon-specific sequence markers. Data indicate that partial AZFc deletions are a male infertility risk [odds ratio: 5.6 (95% CI: 1.6-30.1)] and although high diversity of partial deletion products and sequence conversion profiles were rec

SUBMITTER: Navarro-Costa P 

PROVIDER: S-EPMC2151955 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature