Diagnosis of male infertility associated with microdeletions at the AZF locus of the Y chromosome


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Objective. To assess the validity of clinical application of an extended panel of STS markers at the AZF locus of the Y chromosome, such as sY84, sY86, sY615, sY127, sY134, sY254, sY255, sY1192, sY1291, sY242, sY1125, sY1197, sY1206, and sY142, to the diagnosis of male infertility. Subject and methods. On the basis of the results of an ejaculate analysis made twice in accordance with the 2010 WHO recommendations, the trial enrolled 272 men, including 146 patients with pathozoospermia treated using an IVF/ICSI program for infertility (a study group) and 126 fertile men with normozoospermia (a control group). All the men underwent molecular genetic testing to detect deletions at the AZF locus of the Y chromosome. DNA typing by real time polymerase chain reaction was performed using 14 STS markers: sY84, sY86, sY615, sY127, sY134, sY254, sY255, sY1192, sY1291, sY242, sY1125, sY1197, sY1206, and sY142. Eighty-three blood samples from women were used as an external negative control. Results. The total prevalence of deletions at the AZF locus of the Y chromosome was 19.2% in men with pathozoospermia and 15.9% in fertile men with normozoospermia. Both groups of men most frequently showed deletions of the STS marker sY1192; these accounted for 13.7 and 14.3% of cases, respectively. In the study group, the proportion of deletions of the marker sY1291 was 8.2%; that was 3.4% for each of the markers sY242, sY254, sY255, and sY1206; 2.1% for sY1197; and 0.7% for each of the markers sY134, sY142, sY615, sY1125, sY84, sY86, and sY127. The control group was also found to have deletions of the markers sY1291 and sY1197; their proportions were 2.4 and 1.6%, respectively. Conclusion. The investigation has shown that the study of STS marker sY1192 is of no prognostic value as it is detectable with an equal frequency in both the patients with pathozoospermia and in the fertile men.

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作者简介

I. Barkov

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: barkov@genetics.ru
Moscow

N. Soroka

ZAO NPF DNA-Technology

Moscow

A. Popova

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_popova@oparina4.ru
Moscow

S. Gamidov

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: s_gamidov@oparina4.ru
Moscow

N. Belyaeva

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: dr_belyaeva@mail.ru
Moscow

Zh. Glinkina

Petrovskie Vorota Maternity and Reproductive Medicine Center

Moscow

E. Kalinina

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_kalinina@oparina4.ru
Moscow

D. Trofimov

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: d.troflmov@dna-tech.ru
Moscow

G. Sukhikh

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: g_sukhikh@oparina4.ru
Moscow

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