RESUMO
To date, the role of male factor contributing in evaluation of spontaneous recurrent pregnancy loss [RPL] has been less investigated and there is discrepancy in the role of Y chromosome microdeltions in RPL. Therefore, the current study was designed to examine whether Y chromosome microdeletions were associated with RPL in an Iranian population. One hundred men from couples, experiencing three or more RPLs, and one hundred normal men from couples with at least one child and no history of miscarriages as control group were included. Genomic DNA was extracted from peripheral blood and tested for Y chromosome microdeletions in AZFa, AZFb and AZFc regions using two multiplex PCR. None of the men in the case and control groups had any microdeletions in the AZFa, AZFb and AZFc regions. It seems that Y chromosome microdeletion is not associated with recurrent pregnancy loss, therefore performing this test in Iranian couples with RPL is not recommended
RESUMO
Deletions of the DAZ [deleted in azoospermia] genes within the human Y chromosome's AZFc region are the most common cause of spermatogenesis failure. These deletions are usually assessed by analyses of genomic DNA extracted from peripheral leukocytes. DAZ genes are expressed in male germ cells. In this prospective study, we investigated DAZ expression and deletion in 102 consecutive infertile men presenting with non-obstructive azoospermia in Avesina Research Institute, Tehran, Iran during 2005-6. In this prospective study, we extracted genomic DNA from peripheral blood leukocytes for detection of DAZ deletions and testicular biopsies for histopathological assessment and analyses of DAZ expression level by reverse transcription polymerase chain reaction. DAZ levels were normalized to expression of the housekeeping Phosphoglucomutase 1 gene. In four out of 102 patients [3.9%], we found DAZ deletion. DAZ expression was observed in 60 [61.2%] of 98 other patients. Expression was not detected in patient with Sertoli cell-only syndrome, but observed in 37 of 40 [92.5%] patients with maturation arrest and 20 of 26 [76.9%] with hypospermatogenesis. The absence of DAZ expression could result in quantitative reduction of germ cells and might be observed despite of normal genomic DNA constitution. We recommend to check DAZ testicular expression and genomic DNA deletion, in non-obstructive azoospermia. This is more recommended to avoid transmission of genetic abnormalities which might lead to infertility in male offspring, when assisted reproductive techniques [ART] are performed