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Multiplex-Polymerase Chain Reaction for Detecting Microdeletions in The Azoospermia Factor Region of Y Chromosome in
Afsaneh Mojtabanezhad Shariatpanahi1,2, Hassan Ahmadnia3, Adam Torkamanzehi1
1Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Background:
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.
Results:
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.
Conclusion:
Performing Testing for Y chromosome microdeletions in men with non-obstructive infertility and couples with RPL remains inconclusive in this study.
Insights
Y chromosome microdeletions were investigated in infertile men and couples with recurrent pregnancy loss (RPL). This study found no significant association between AZF region deletions and non-obstructive infertility or RPL.
Area of Science:
- Genetics
- Reproductive Medicine
- Male Infertility
Background:
- Male infertility affects 15% of couples, with Y chromosomal microdeletions in the azoospermia factor (AZF) region being a key genetic factor.
- Emerging research suggests a link between AZF deletions and recurrent pregnancy loss (RPL).
Purpose of the Study:
- To investigate the association between AZF microdeletions and male infertility.
- To characterize AZF microdeletions in men with non-obstructive infertility and in men whose wives experience RPL.
Main Methods:
- A case-control study involving 80 male samples: 40 with non-obstructive infertility, 20 from couples with RPL, and 20 fertile controls.
- Multiplex polymerase chain reaction (PCR) was used to amplify 19 sequence tagged sites (STS) for AZF microdeletion detection.
- Statistical analysis included a two-tailed unpaired t-test to compare groups, with P<0.05 considered significant.
Main Results:
- One case of Y chromosome microdeletion was detected among 40 men with non-obstructive infertility.
- No microdeletions were found in men from couples with RPL or in fertile controls.
- Y chromosome microdeletions showed no significant association with non-obstructive infertility (P=0.48) or RPL.
Conclusions:
- The study's findings on Y chromosome microdeletions in non-obstructive infertility and RPL are inconclusive.
- Further research is needed to clarify the role of AZF microdeletions in these conditions.
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