Molecular Diagnosis of Y-Chromosome Microdeletions in Some Kurdish Infertile Males: EAA/EMQN PCR Protocol Optimization.

Authors

  • Muhsin Jamil Department of Biology, College of Science Salahaddin University-Erbil, Kurdistan Region, Iraq
  • Mustafa Saber Al-Attar Department of Biology, College of Science Salahaddin University-Erbil, Kurdistan Region, Iraq

DOI:

https://doi.org/10.21271/ZJPAS.34.1.5

Keywords:

Male infertility; Y chromosome microdeletions; AZF region; PCR technique.

Abstract

Globally about 15% of couples don’t achieve pregnancy within one year and look for medical treatments to with their infertility. Infertility is the incapability of couples to conceive a child after one year of unprotected intercourse. Male factors are responsible for about 50% of all infertility cases and genetic factors are diagnosed in about 15–20% of infertile males causing azoospermia or severe oligozoospermia. Several genes named azoospermia factor (AZF) present on the long arm of the human Y-chromosome are participated in spermatogenesis, and microdeletions in these genes have been recognized to be the second genetic cause of spermatogenetic failure after Klinefelter syndrome resulting in male infertility. In this current study, a simple PCR format is investigated for AZF microdeletion screening. This present study performed on 296 infertile Kurdish males, 289 patients with azoospermia (97.6%) and, 7 patients with severe azoospermia (2.4%), and 50 healthy fertile men as the control group in Erbil governorate/Iraq. Results showed that AZF deletions were found in 10 of 289 patients (3.5%), 3/10 (30%) had microdeletions in their AZFc region, 3/10 (30%) had microdeletions in the AZFb region, 3/10 (30%) in AZFb,c region, and the final one (10%) had microdeletions in all regions AZFa,b,c. No microdeletions were found both oligozoospermias and the normal group. 

References

 

ARUMUGAM, M., SHETTY, D. P., KADANDALE, J. S. & KUMARI, S. N. 2021. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. International Journal of Reproductive BioMedicine, 19, 147.

BEG, M. A., NIESCHLAG, E., ABDEL‐MEGUID, T. A., ALAM, Q., ABDELSALAM, A., HAQUE, A., MOSLI, H. A., BAJOUH, O. S., ABUZENADAH, A. M. & AL‐QAHTANI, M. 2019. Genetic investigations on causes of male infertility in Western Saudi Arabia. Andrologia, 51, e13272.

BROWN, T. A. 2020. Gene cloning and DNA analysis: an introduction, John Wiley & Sons.

COLACO, S. & MODI, D. 2018. Genetics of the human Y chromosome and its association with male infertility. Reproductive biology and endocrinology, 16, 1-24.

HOTALING, J. & CARRELL, D. 2014. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology, 2, 339-350.

JUNGWIRTH, A., DIEMER, T., KOPA, Z., KRAUSZ, C. & TOURNAYE, H. 2019. EAU Guidelines on male infertility. Edn. presented at the EAU Annual Congress Barcelona 2019. EAU Guidelines Office, Arnhem, The Netherlands. ISBN 978-94-92671-04-2. http://uroweb.org/guidelines/compilations-of-all-guidelines/

KRAUSZ, C. & RIERA-ESCAMILLA, A. 2018. Genetics of male infertility. Nature Reviews Urology, 15, 369-384.

KRAUSZ, C., HOEFSLOOT, L., SIMONI, M. & TÜTTELMANN, F. 2014. EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013. Andrology, 2, 5-19.

KRAUSZ, C., QUINTANA-MURCI, L. & MCELREAVEY, K. 2000. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Human Reproduction, 15, 1431-1434.

KURODA-KAWAGUCHI, T., SKALETSKY, H., BROWN, L. G., MINX, P. J., CORDUM, H. S., WATERSTON, R. H., WILSON, R. K., SILBER, S., OATES, R. & ROZEN, S. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nature genetics, 29, 279-286.

LANGE, J., SKALETSKY, H., VAN DAALEN, S. K., EMBRY, S. L., KORVER, C. M., BROWN, L. G., OATES, R. D., SILBER, S., REPPING, S. & PAGE, D. C. 2009. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell, 138, 855-869.

ORGANIZATION, W. H. 2010. WHO laboratory manual for the examination and processing of human semen.

ÖZDEMIR, T. R., ÖZYıLMAZ, B., ÇAKMAK, Ö., KAYA, Ö. Ö., KÖSE, C., KıRBıYıK, Ö., KESKIN, M. Z., KOÇ, A., ZEYREK, T. & KUTBAY, Y. B. 2020. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study. Turkish journal of urology, 46, 95.

RABINOWITZ, M. J., HUFFMAN, P. J., HANEY, N. M. & KOHN, T. P. 2021. Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations. The Application of Clinical Genetics, 14, 51.

ROWE, P. J., COMHAIRE, F. H., HARGREAVE, T. B. & MAHMOUD, A. M. 2000. WHO manual for the standardized investigation and diagnosis of the infertile male, Cambridge university press.

SIMONI, M., BAKKER, E. & KRAUSZ, C. 2004. EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004. International journal of andrology, 27, 240-249.

SKALETSKY, H., KURODA-KAWAGUCHI, T., MINX, P. J., CORDUM, H. S., HILLIER, L., BROWN, L. G., REPPING, S., PYNTIKOVA, T., ALI, J. & BIERI, T. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature, 423, 825-837.

TOURNAYE, H., KRAUSZ, C. & OATES, R. D. 2017. Novel concepts in the aetiology of male reproductive impairment. The lancet Diabetes & endocrinology, 5, 544-553.

WITHERSPOON, L., DERGHAM, A. & FLANNIGAN, R. 2021. Y-microdeletions: a review of the genetic basis for this common cause of male infertility. Translational Andrology and Urology, 10, 1383.

World Health Organization. WHO laboratory manual for the examination and processing of human semen, 6th ed. WHO Press, Geneva , Switzerland; 2021. 276 p. Available at https://www.who.int/publications/i/item/9789240030787

ZHU, X. B., GONG, Y. H., HE, J., GUO, A. L., ZHI, E. L., YAO, J. E., ZHU, B. S., ZHANG, A. J. & LI, Z. 2017. Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real‐time polymerase chain reaction. Andrologia, 49, e12662.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Published

2022-02-24

How to Cite

Jamil, M., & Saber Al-Attar , M. . (2022). Molecular Diagnosis of Y-Chromosome Microdeletions in Some Kurdish Infertile Males: EAA/EMQN PCR Protocol Optimization. Zanco Journal of Pure and Applied Sciences, 34(1), 50–56. https://doi.org/10.21271/ZJPAS.34.1.5

Issue

Section

Biology, Chemistry and Medical Researches