Lack of Association Between Partial Y chromosome AZFc-gr/gr Deletions and Male Infertility

Muhsin Jamil Abdulwahid; Mustafa Saber  Al-Attar

doi:10.59786/bmtj.124

Authors

Muhsin Jamil Abdulwahid General Directorate of Scientific Research Center, Salahaddin University-Erbil, Erbil, 44001, Iraq https://orcid.org/0000-0001-5636-5867
Mustafa Saber Al-Attar Department of Biology, College of Science, Salahaddin University-Erbil, Erbil, 44001, Iraq https://orcid.org/0000-0002-2106-130X

DOI:

https://doi.org/10.59786/bmtj.124

Keywords:

Male Infertility, Y chromosome, Azoospermia, AZFc-gr/gr deletion, PCR technique

Abstract

A microdeletion in the azoospermia factor (AZF) region of the human Y chromosome long arm is the second most common genetic factor causing male infertility and spermatogenetic failure. The current study aimed to evaluate the occurrence of AZFc-partial gr/gr deletions in a sample of 260 infertile azoospermia and 40 fertile men as a control group from the Kurdish community using the gel-based PCR technique. To understand whether these deletions were associated with their fertility problems. Two pairs of gr/gr primers (sY1291and sY1191) and a primer of Hetero-chromatin sY160-F were used for screening for gr/gr deletion in a single PCR reaction according to EAA and EMQN protocol. Based on the results of this study, no AZF/c gr/gr deletions were found in either the infertile or fertile participants. Therefore, this finding confirms the concept that these AZFc gr/gr partial deletions are improbable to have an important impact on infertility, and the hereditary risk associated with these partial deletions is much reduced compared to deletions that affect the entire AZFc region.

Downloads

Download data is not yet available.

References

Akalewold M, Yohannes GW, Abdo ZA, Hailu Y, Negesse A. Magnitude of infertility and associated factors among women attending selected public hospitals in Addis Ababa, Ethiopia: a cross-sectional study. BMC Women's Health. 2022/01/11 2022;22(1):11. doi:10.1186/s12905-022-01601-8

Jungwirth A, Diemer T, Dohle G, et al. EAU guidelines on male infertility. Eur Urol. 2013;7:226-241.

Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem. Dec 2018;62:2-10. doi:10.1016/j.clinbiochem.2018.03.012

Hallast P, Ebert P, Loftus M, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. Sep 2023;621(7978):355-364. doi:10.1038/s41586-023-06425-6

Rhie A, Nurk S, Cechova M, et al. The complete sequence of a human Y chromosome. Nature. Sep 2023;621(7978):344-354. doi:10.1038/s41586-023-06457-y

Hotaling J, Carrell DT. Clinical genetic testing for male factor infertility: current applications and future directions. Andrology. May 2014;2(3):339-50. doi:10.1111/j.2047-2927.2014.00200.x

Witherspoon L, Dergham A, Flannigan R. Y-microdeletions: a review of the genetic basis for this common cause of male infertility. Translational Andrology and Urology. 2021;10(3):1383.

Repping S, Skaletsky H, Lange J, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. The American Journal of Human Genetics. 2002;71(4):906-922.

Lu VM, O'Connor KP, Shah AH, et al. The prognostic significance of CDKN2A homozygous deletion in IDH-mutant lower-grade glioma and glioblastoma: a systematic review of the contemporary literature. J Neurooncol. Jun 2020;148(2):221-229. doi:10.1007/s11060-020-03528-2

Levkova M, Chervenkov T, Angelova L. The association of gr/gr deletion in the Y chromosome and impaired spermatogenesis in Bulgarian males: a pilot study. Middle East Fertility Society Journal. 2020;25(1):1-5.

Organization WH. WHO laboratory manual for the examination and processing of human semen. World Health Organization; 2021.

Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Academy of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. Jan 2014;2(1):5-19. doi:10.1111/j.2047-2927.2013.00173.x

Brown TA. Gene cloning and DNA analysis: an introduction. John Wiley & Sons; 2020.

Krausz C, Hoefsloot L, Simoni M. European Academy of Andrology; European Molecular Genetics Quality Network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. 2014;

Bansal SK, Jaiswal D, Gupta N, et al. Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses. Sci Rep. Feb 15 2016;6(1):19798. doi:10.1038/srep19798

Li Y, Pan KJ, Wang L, Ren J. Association of gr/gr deletion in the AZFc region of Y chromosome with male infertility: a meta-analysis. Zhonghua Nan Ke Xue. Jun 2011;17(6):546-52.

de Llanos M, Ballesca JL, Gazquez C, Margarit E, Oliva R. High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod. Jan 2005;20(1):216-20. doi:10.1093/humrep/deh582

Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA. Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet. Jan 2011;19(1):23-9. doi:10.1038/ejhg.2010.151

Alimardanian L, Saliminejad K, Razi S, Ahani A. Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia. Andrologia. Nov 2016;48(9):890-894. doi:10.1111/and.12527

Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, Santos FR, Pena SD. No association found between gr/gr deletions and infertility in Brazilian males. MHR: Basic science of reproductive medicine. 2006;12(4):269-273.

Motovali-Bashi M, Rezaei Z, Dehghanian F, Rezaei H. Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran. Iran J Reprod Med. Sep 2015;13(9):563-70.

Rao MV, ShAh NP, Raval RJ, SOlANki PP, ShAh PS, ShAh SC. Current status of Y chromosome microdeletions: Prevalence, distribution, implication and association with male infertility in Indian men a review. J Clin Dign Res. 2021;15

Petersen CG, Mauri AL, Vagnini LD, et al. The effects of male age on sperm DNA damage: an evaluation of 2,178 semen samples. JBRA Assist Reprod. Nov 1 2018;22(4):323-330. doi:10.5935/1518-0557.20180047