Determination of AZF factor Y chromosome in DNA by molecular genetic method

Infertility affects 15-20% of reproductive couples. In half of cases, the man is infertile. Infertility can be acquired or congenital.

This genetic test includes the analysis of AZF locus structure of Y chromosome, as well as SRY and ZFY gene deletions determination.

Deviations in the specific region of Y chromosome - AZF locus - is one of the causes of male infertility. The genes in the AZF locus determine the normal course of spermatogenesis, and in case of violation in genetic AZF-locus structure, the formation of male germ cells can be disrupted. AZF locus or "azoospermia factor" is divided into 3 segments: AZFa, AZFb and AZFc. The genes engaged in the spermatogenesis control have been identified in each of them. Deletions at AZF locus can be complete or partial. Presentations can be different depending on the localization and type of violation. The study outcomes get prognostic value in obtaining the spermatozoa suitable for in vitro fertilization programs. For instance, absence of the entire AZF locus, deletions covering the AZFa and / or AZFb segments completely, show that spermatozoa cannot be obtained. With partial AZF deletions, presentations range from azoospermia to normozoospermia.

The sex-determining region Y (SRY) gene is essential for the male fetus development. Gene mutations cause the congenital disorder of the male reproductive system development and / or sex inversion (birth of XX karyotype men). When SRY containing chromosome region is absent the phenotype will be female with male 46XY karyotype.

ZFY – common fragment of genes-homologues ZFX / ZFY, found in both women and men, respectively.