Y Chromosome Microdeletion

What is Y Chromosome Microdeletion?

Y chromosome microdeletion (YCM) is a genetic condition characterized by the loss of small segments of genetic material (microdeletions) on the Y chromosome, which is one of the two sex chromosomes (X and Y) in humans. These deletions can interfere with the genes responsible for sperm production, often leading to male infertility.

Y Chromosome Microdeletion and Male Infertility

The Y chromosome plays a crucial role in male fertility, not only for its clear role in sex determination but also for its involvement in spermatogenesis. Since several genes located on the chromosome influence the overall integrity and quality of sperm, changes or deletions in its sequence structure—such as YCM—can lead to abnormalities in sperm count, motility, and morphology, often resulting in male infertility. Characterization of the specific region affected by YCM enables clinical researchers to understand underlying causes for infertility and to develop strategies for prognosis and treatment.

Genetic Factors of Y Chromosome Microdeletions

Microdeletions typically occur in specific regions of the long arm of the Y chromosome, known as the azoospermia factor (AZF) regions. These regions are divided into three subregions: AZFa, AZFb, AZFc. Since the genes within the AZF regions are essential for the production and development of sperm, YCM may be investigated to research unexplained infertility in men with low sperm count (Oligospermia) or complete absence of sperm (Azoospermia).

How to Detect Y Chromosome Microdeletion

We offer a PCR-based Y chromosome Deletion Detection System that identifies microdeletions in the AZF regions. It amplifies key functional regions associated with AZF, namely the regions that flank AZfa and cover AZFb, AZFc, AZFd including DAZ, KAL-Y, SMCY and flanking loci for other key spermatogenesis-related genes (namely BRM1, DFFRY and DBY). Failure to amplify specific regions of the Y chromosome is indicative of YCMs in a test sample.