Past Issue

Volume 11, Number 4, Jan-Mar 2018, Pages: 253-257

Multiplex-Polymerase Chain Reaction for Detecting Microdeletions in The Azoospermia Factor Region of Y Chromosome in Iranian Couples with Non-Obstructive Infertility and Recurrent Pregnancy Loss

Afsaneh Mojtabanezhad Shariatpanahi, M.Sc, 1, 2, Hassan Ahmadnia, M.D, 3, Adam Torkamanzehi, Ph.D, 1, Mahnaz Mansouri Torshizi, M.D, 4, Mohammad Amin Kerachian, M.D., Ph.D, 2, 5, *,
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
Department of Urology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
Novin Infertility Center, Mashhad, Iran
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
*Corresponding Address: P.O.Box: 9177948564 Department of Medical Genetics Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran



Approximately 15% of couples are infertile with the male factor explaining approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletions within the proximal long arm of the Y chromosome (Yq11), named the azoospermia factor (AZF) region. Recent studies have shown there is a potential connection between deletions of the AZF region and recurrent pregnancy loss (RPL). The aim of this study is to examine this association by characterizing AZF microdeletions in two infertile groups: in men with non-obstructive infertility and in men with wives displaying RPL.

Materials and Methods

In this is a case-control study, genomic DNA was extracted from 80 male samples including 40 non-obstructive infertile men, 20 males from couples with RPL and 20 fertile males as controls. Multiplex polymerase chain reaction was used to amplify 19 sequence tagged sites (STS) to detect AZF microdeletions. Differences between the case and control groups were evaluated by two-tailed unpaired t test. P<0.05 were considered statistically significant.


Only one subject was detected to have Y chromosome microdeletions in SY254, SY157 and SY255 among the 40 men with non-obstructive infertility. No microdeletion was detected in the males with wives displaying RPL and in 20 control males. Y chromosome microdeletion was neither significantly associated with non-obstructive infertility (P=0.48) nor with recurrent pregnancy loss.


Performing Testing for Y chromosome microdeletions in men with non-obstructive infertility and couples with RPL remains inconclusive in this study.