GENEQUALITY AZF Y-TYPE

Description

The GENEQUALITY AZF Y-TYPE kit is an IVD for detection of deletions in the AZF locus by Reverse Line Blot.
The product involves a multiplex PCR reaction, using DNA extracted from human peripheral whole blood

Product Characteristics

• The assay requires only 5 µL of DNA extracted
• The automatic format of the assay can be used on different automatic instruments for Reverse Line Blot protocols

Kit content

Kit includes:

• Ready-to-use reagents for End-Point PCR
• Reference DNA
• Strips and reagents for amplicons visualization by Reverse Line Blot
• Transparent film for strip interpretation
• Strip collection sheet
• Tray with 8 single-use channels for Reverse Line Blot (only in the manual format)
• CD-ROM containing the User manual

Further Information

The analysis of microdeletions of the Y chromosome is considered an essential diagnostic tool for the investigation of male infertility.
The research of the last years allowed to identify three regions on the long arm of the Y chromosome, the so-called Azoospermia Factors (AZF), that frequently carry deletions in men that suffer from azoospermia or severe oligozoospermia. These loci (AZFa, AZFb and AZFc) contain genes that control the correct sequence of spermatogenesis. Changes in one or more of those AZF loci lead to a drastic reduction or complete loss of sperm cells.
Various studies have examined the mechanisms underlying the AZF microdeletions. In several cases DNA repeats have been found to play a crucial role. It has demonstrated that the deletion in the AZFa locus is the result of a recombination event between two HERV15 proviral sequences. In contrast, deletions of the AZFc locus follow a recombination of blocks of DNA repeats that flank this locus.
Usually Y-chromosome infertility is suspected in male patients showing azoospermia or severe oligospermia associated with anomalous sperm morphology and/or motility in the absence of other causes. In 5% to 10% of those cases molecular analysis reveals microdeletions on the Y chromosome.
At least the following four genes need to be examined to evaluate the integrity of the euchromatic region of the Y chromosome: USP9Y (or DFFRY), DBY, RBMY and DAZ. These genes have been shown to be directly or indirectly involved in male fertility.
The ubiquitously expressed USP9Y gene is found as a single copy in the AZFa region and has a homologue on the X chromosome.
The DBY gene, located in the AZFa region, is also a single-copy gene with a homologue on the X chromosome, but is specifically expressed in the testicles.
RBMY is a multi-copy gene mainly located in the AZFb region and exclusively expressed in the testicles.
DAZ is a gene of four copies organized in two clusters which are found in the AZFc locus.

Ordering Information