Частота термінальної делеції sY160 серед чоловіків із мікроделеціями AZFc регіону Y-хромосоми

Анотація

Aim. Determine the frequency of absence marker terminal deletions sY160 among men with microdeletions of AZFc region Y-chromosome. Methods. DNA from probands blood samples was isolated using a modified salting out method. Microdeletions of Y chromosome AZF region were analyzed using two multiplex PCR. The molecular-genetic study of terminal deletions (absence of sY160) was carried out using allele-specific PCR and analysed by electrophoresis in a 2 % agarose gel. Results. Among infertile men (1500 individuals), Y chromosome microdeletions were detected in 7% males: microdeletions of AZFa subregion in 1 %, AZFb subregion – 3 %, AZF(b+c) subregions – 15 %, AZFc subregion – 67 %. The presence of heterochromatin marker sY160 was confirmed in 39 cases (84.8 %) and absence of sY160 in 7 men (15.2 %). Absence of sY160 was detected in 2 men with AZFc microdeletion and in 5 men with AZFb+AZFc microdeletions. It is important to point out that terminal AZFc deletion was confirmed in 83.3 % of cases of AZFb+c microdeletions and only in 5.1 % of isolated AZFc microdeletions. Conclusions. Thus, among 15.2 % man with different AZF microdeletions of Y-chromosome the heterochromatin marker of terminal deletion sY160 was absents. The implementation of testing of marker of terminal deletion – sY160 may help to determine if the deletion corresponds to the b2/b4 pattern and to avoid biopsy in man which most likely not benefit from the surgical procedure.

Keywords: male infertility, spermatogenesis, Y chromosome, AZF region, terminal deletions.