International Journal of Genetics and Genomics

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Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India

Received: 11 May 2021    Accepted: 2 June 2021    Published: 21 June 2021
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Abstract

Background: In the work up of male infertility, Y chromosome microdeletion screening is crucial. PCR is a very sensitive technique to screen Y chromosome microdeletion. In the current study, Y chromosome microdeletion was detected by PCR based technique. To the best of our knowledge, no such study has been reported from Chhattishgarh state of India so far. Material and methods: A total of seventy-three subjects were enrolled for the study during the period of one year. Out of which forty-seven subjects were cases (infertile men with oligozoospermia and azoospermia) and twenty-five were controls (with normozoospermia and having child). Semen analysis was done in each case to evaluate spermatogenesis status. Sperm DNA fragmentation by sperm chromatin dispersion of cases with oligozoopermia was also performed to detect DNA fragmentation Index. Results: Y chromosome microdeletion was observed in one out of forty-seven infertile males who were oligozoospermic or azoospermic. The type of deletion was AZFbc. Thus 2.12% men among oligozoospermic or azoospermic men have Y chromosome microdeletion in Chhattisgarh. Conclusion: In Indian population, AZFbc deletion has been found to be the second commonest type of deletion. In our study, we have also found this as the only deletion. This test also provides etiological interpretation of male infertility to the patient. We believe that awareness about transmission of deleted gene to the offspring could prevent infertility up to certain extent in the affected couples.

DOI 10.11648/j.ijgg.20210902.12
Published in International Journal of Genetics and Genomics (Volume 9, Issue 2, June 2021)
Page(s) 36-41
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This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Azoospermic Factor (AZF), Oligozoospermic, Yq Microdeletion

References
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[2] Sen S, Pasi AR, Dada R, Shamsi MB, Modi D. Y chromosome microdeletion in infertile men: prevalence, phenotypes and screening markers for Indian population. J Assist Reprod Genet 2013; 30: 413-422.
[3] Krausz C, Murci LQ, Elreavey K Mc. Prognostic value of Y chromosome micro deletion analysis, Hum Reprod 2000; 15: 1431–1434.
[4] Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003; 18: 1660–1665.
[5] Kuhnert B, Nieschlag E. Reproductive functions of the ageing male. Hum Reprod Update. 2004; 10 (4): 327-39.
[6] Longepied G, Saut N, Aknin-Seifer I, Levy R, Frances AM, MetzlerGuillemain C, Guichaoua MR, Mitchell MJ. Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum Reprod 2010; 25: 2655–2663.
[7] Soares AR, Costa P, Silva J, Sousa M, Barros A & Fernandes S. AZFb microdeletions and oligozoospermia–which mechanisms? Fertil Steril 2012; 97: 858–863.
[8] Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y Chromosome microdeletion in infertile Indian males: utility of simplified multiplex PCR. Indian J Med Res 2008; 127: 124-32.
[9] Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, Muller CR, Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999; 22 (5): 292-299.
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[13] Suganthi R, Manonayaki S, Benazir JF. Molecular analysis of Y-chromosome microdeletions in infertile men. Int J of Med Sci. 2009; 2 (1): 54-60.
[14] Prafulla S, Ambulkar, Pande SS. Male Infertility: Screening of Azoospermia factor (AZF) microdeletion in Idiopathic infertile men. JEBAS 2017; 5 (1): 007-013.
[15] Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subramainan S, Rani DS, et al. Y chromosome deletions in azoospermic men in India. J Androl 2003; 24: 588–97
[16] Mittal R D, Singh G, Srivastava A, Pradhan M, Kesari A, Makker A, Mittal B. Y-chromosome microdeletions in idiopathic infertility from northern India. Annales de Genetique 2004; 5 (3): 331-337.
[17] Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologus retoviral sequence block in proximal Yq11 causes AZFa microdeletion as result of intrachromosomal recombination. Hum Mol Genet 2000; 9: 2563-2572.
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  • APA Style

    Manisha Barnwal Sinha, Rima Dada, Suprava Patel, Apoorva Joshi, Nilaj Bagde, et al. (2021). Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India. International Journal of Genetics and Genomics, 9(2), 36-41. https://doi.org/10.11648/j.ijgg.20210902.12

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    ACS Style

    Manisha Barnwal Sinha; Rima Dada; Suprava Patel; Apoorva Joshi; Nilaj Bagde, et al. Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India. Int. J. Genet. Genomics 2021, 9(2), 36-41. doi: 10.11648/j.ijgg.20210902.12

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    AMA Style

    Manisha Barnwal Sinha, Rima Dada, Suprava Patel, Apoorva Joshi, Nilaj Bagde, et al. Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India. Int J Genet Genomics. 2021;9(2):36-41. doi: 10.11648/j.ijgg.20210902.12

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  • @article{10.11648/j.ijgg.20210902.12,
      author = {Manisha Barnwal Sinha and Rima Dada and Suprava Patel and Apoorva Joshi and Nilaj Bagde and Human Prasad Sinha},
      title = {Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India},
      journal = {International Journal of Genetics and Genomics},
      volume = {9},
      number = {2},
      pages = {36-41},
      doi = {10.11648/j.ijgg.20210902.12},
      url = {https://doi.org/10.11648/j.ijgg.20210902.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20210902.12},
      abstract = {Background: In the work up of male infertility, Y chromosome microdeletion screening is crucial. PCR is a very sensitive technique to screen Y chromosome microdeletion. In the current study, Y chromosome microdeletion was detected by PCR based technique. To the best of our knowledge, no such study has been reported from Chhattishgarh state of India so far. Material and methods: A total of seventy-three subjects were enrolled for the study during the period of one year. Out of which forty-seven subjects were cases (infertile men with oligozoospermia and azoospermia) and twenty-five were controls (with normozoospermia and having child). Semen analysis was done in each case to evaluate spermatogenesis status. Sperm DNA fragmentation by sperm chromatin dispersion of cases with oligozoopermia was also performed to detect DNA fragmentation Index. Results: Y chromosome microdeletion was observed in one out of forty-seven infertile males who were oligozoospermic or azoospermic. The type of deletion was AZFbc. Thus 2.12% men among oligozoospermic or azoospermic men have Y chromosome microdeletion in Chhattisgarh. Conclusion: In Indian population, AZFbc deletion has been found to be the second commonest type of deletion. In our study, we have also found this as the only deletion. This test also provides etiological interpretation of male infertility to the patient. We believe that awareness about transmission of deleted gene to the offspring could prevent infertility up to certain extent in the affected couples.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Frequency of Deletion of AZF Region of the Y Chromosome in Chhattishgarh, India
    AU  - Manisha Barnwal Sinha
    AU  - Rima Dada
    AU  - Suprava Patel
    AU  - Apoorva Joshi
    AU  - Nilaj Bagde
    AU  - Human Prasad Sinha
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    PY  - 2021
    N1  - https://doi.org/10.11648/j.ijgg.20210902.12
    DO  - 10.11648/j.ijgg.20210902.12
    T2  - International Journal of Genetics and Genomics
    JF  - International Journal of Genetics and Genomics
    JO  - International Journal of Genetics and Genomics
    SP  - 36
    EP  - 41
    PB  - Science Publishing Group
    SN  - 2376-7359
    UR  - https://doi.org/10.11648/j.ijgg.20210902.12
    AB  - Background: In the work up of male infertility, Y chromosome microdeletion screening is crucial. PCR is a very sensitive technique to screen Y chromosome microdeletion. In the current study, Y chromosome microdeletion was detected by PCR based technique. To the best of our knowledge, no such study has been reported from Chhattishgarh state of India so far. Material and methods: A total of seventy-three subjects were enrolled for the study during the period of one year. Out of which forty-seven subjects were cases (infertile men with oligozoospermia and azoospermia) and twenty-five were controls (with normozoospermia and having child). Semen analysis was done in each case to evaluate spermatogenesis status. Sperm DNA fragmentation by sperm chromatin dispersion of cases with oligozoopermia was also performed to detect DNA fragmentation Index. Results: Y chromosome microdeletion was observed in one out of forty-seven infertile males who were oligozoospermic or azoospermic. The type of deletion was AZFbc. Thus 2.12% men among oligozoospermic or azoospermic men have Y chromosome microdeletion in Chhattisgarh. Conclusion: In Indian population, AZFbc deletion has been found to be the second commonest type of deletion. In our study, we have also found this as the only deletion. This test also provides etiological interpretation of male infertility to the patient. We believe that awareness about transmission of deleted gene to the offspring could prevent infertility up to certain extent in the affected couples.
    VL  - 9
    IS  - 2
    ER  - 

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Author Information
  • Department of Anatomy, All India Institute of Medical Sciences, Raipur, India

  • Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India

  • Department of Biochemistry, All India Institute of Medical Sciences, Raipur, India

  • Department of Anatomy, All India Institute of Medical Sciences, Raipur, India

  • Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Raipur, India

  • Department of Neurology, Narayana Health Modern Medical Institute Superspeciality Hospital, Raipur, India

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