Cytogenetic Abnormalities and Y Chromosome Microdeletions in Azoospermic and Oligospermic Infertile Males from West of Iran

     About 15% of couples have infertility problems, half of which are related to male factors. Cytogenetic and genetic disorders account for about 10% of the male infertility problems. The aim of this study was to determine the frequency and types of both cytogenetic abnormalities and AZF microdeletions of Y chromosome in idiopathic azoospermic and oligospermic infertile men in west of Iran. In this case-control study, a total of 108 infertile men including 62 azoospermic and 46 oligospermic men were studied for the cytogenetic and AZF microdeletions. Moreover, 90 fertile men served as a control group. Detailed clinical and laboratory examination was done for all participants. Karyotyping was done on peripheral blood lymphocytes to detect the cytogenetic abnormalities; likewise, multiplex-PCR method was performed to identify the presence of microdeletion in AZFa, AZFb or AZFc regions. Chromosomal abnormalities were detected in 6.5% (7/108) of cases, including two oligospermic men with balanced autosomal rearrangements, one oligospermic and four azoospermic men with Klinefelter syndrome. Y chromosome microdeletions were detected in 4.6% (5/108) of infertile men (AZFc: 3.7%, AZFbc: 0.9%). No AZFa deletion was detected in any of the patients. No chromosomal abnormality and Y chromosome microdeletion was detected in control group. The prevalence of chromosomal abnormalities and Y chromosome microdeletions shows the importance of genetic factors in male infertility. The analysis of karyotype and Y microdeletions in infertile men provide a proper understanding about the causes of infertility, the choice of the appropriate assisted reproduction technique and reducing the risk of transmission of these genetic defects to the future generation.

The effects of ATO on mitochondria apoptosis pathway genes expression in APL cell line

Abstract Purpose and Background: Acute promyelocystic leukemia is the most malignant acute leukemia that leads to death in few weeks. It constitutes 10-15% of acute myelocystic leukemia. Arsenic trioxide, as a single agent factor, is known as the best treatment for acute promyelocystic leukemia, which mainly functions by inducing apoptosis. However, there is no clear image of the mechanism through which apoptosis is induced and how the genes expression is deeply affected. Thus, the present study is an attempt to examine the effect of the agent on expression of the genes dealing with the cancer. Methodology: The study was carried out as an analytical work. To find out about the mechanisms effective on inducing apoptosis, cell line NB4 were cultured with 0.5µM, 1 µM, and 2 µM arsenic trioxide and their RNA was extracted after 12hrs, 24hrs, 28hrs, and 72hrs. Following cDNA synthesis, apoptosis genes expression at mitochondria pathway including caspase 3, Mcl-1, and Bcl-2 were examined using Real-Time PCR. The data was analyzed using t-test and variance analysis in Excel. Findings: It was found that arsenic caused apoptosis was featured with decrease of mRNA expression of Bcl-2 anti-apoptotic. However, expression of caspase 3 and Mcl-1 genes remained unchanged after culturing by arsenic. Conclusion: The results showed that changes in Bcl-2 gene expression can be considered as a mechanism of apoptosis caused by arsenic, while caspase 3 and Mcl-1 genes had no effect on the mechanism