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THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY

Year 2002, Volume: 15 Issue: 4, 227 - 232, 03.12.2016

Abstract

O b je c tiv e : Recent investigations have
supported the importance of Y chromosome
microdeletions in male infertility. Besides
different factors, sperm morphology is also a very
important component of the clinical evaluation of
male fertility potential. The aim of our study was
to understand the relation between Y
chromosome microdeletions and sperm
morphology in different risk groups.
Material and Methods: In this study, 34 infertile
men were selected and examined in terms of
sperm morphology and Y chromosome
microdeletions. Semen analyses of the patients
were performed by using Strict criteria and the
samples were grouped according to the sperm
abnormalities. Peripheral blood samples were
examined for Y chromosome microdeletions by a
multiplex polymerase chain reaction amplification
of sequence-tagged sites (STS) of the Y
chromosome.
R e su lts : The incidence of deletions in the group
was 14.7 % (5/34). The rates of Y chromosome
microdeletion were 33.3% for megalohead,
33.3% for elongehead, 0% for roundhead, 100%
for pinhead, 14.3% for severe teratozoospermia,
33.3% for severe neck abnormalities and 0% for
tail-stump Pregnancy could not be obtained from
Y chromosome deleted cases.
Co nclus io n: It seems that especially patients
with sperm head and neck abnormality have
increased microdeletion risk. It is suggested that
a detailed sperm morphology examination and
classification is needed to clarify the Y
chromosome deletion-sperm morphology relation.
Key Words: Y chromosome microdeletions,
Sperm morphology, Male infertility

References

  • Hartung M, Devictor M, Codaccioni JL. Yq deletion and failure of spermatogenesis. Ann Genet 1998; 31: 21-26.
  • Robayashi K, Mizuno R, llida A. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994 ; 3: 1965-1967.
  • Reijo R, Lee T, Salo P, et at. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RHA-binding protein gene, nature Genet 1995; 10: 383-393.
  • The PSHRE Capri Workshop Group. Male infertility update. Plum Reprod 1998; 13: 2025-2032.
  • Bardoni B, Zuffardi O, Guioli S. A deletion map of the human Yq 11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; II: 443- 451.
  • Chandley AC, Cooke fiJ. Human male
  • infertility - Y linked genes and
  • spermatogenesis. Hum Mol Genet 1994; 3: 1449-1452.
  • Tiepolo L, Zuffardi O. Localization of factors
  • controlling spermatogenesis in the
  • non fluorescent portion of the human Y chromosome long arm. Hum Genet I976;34:
  • I 19-124.
  • Pitch T1, Richer CL, Pinsky L. Deletion of the long arm of the Y chromosome and review of
  • 3 0
  • Y chromosome microdeletions and sperm morphology
  • the Y chromosome abnormalities. Am J Med Genet 1985; 20: 31-42.
  • Andersson M, Page DC, Pettay D. Y chromosome translocations and mosaicism in the aetiology of 45,X maleness: Assignment of fertility to factor to distal Yq 11. Hum Genet 1988; 79: 2-7.
  • Johnson MD, Tho SPT, Behzadian A. Molecular scanning of Yq 11 (interval 6) in men with sertoli cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732-1737.
  • I. Share J, Drwinga tl, Wyandt II. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36: 394-397.
  • !2. Ma b, Sharkey A, birsch S. Towards the molecular localisation of the AZP locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29-33.
  • Ma b, Inglis JD, Sharkey A. A chromsome gene family with KHA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287-1295.
  • Vogt PH, Chandley AC, Hargreave TB. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis. Hum Genet 1992; 89: 491 - 496.
  • Foresta C, Ferlin A, Garolla A. High frequency of well-defined Y chromosome deletions in idiopathic sertoli cell only syndrome. Hum Keprod 1998; 13: 302-307.
  • Chai HIT, Salido EC, Yen PH. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 1997; 45: 355-361.
  • Vogt PH, Edelmann A, birsch S. Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yq 11. Hum Mol Genet 1996; 5: 933-943.
  • Foresta C, Ferlin A, Garolla A. Y chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82: 1075-1080.
  • Girardi Sb, Mielnik A, Schlegel PH. Submicroscopic deletions in the Y chromosome of infertile men. Hum He prod 1997; 12: 1635-1641.
  • bremer JAM, Tuerlings JttAM, Meuleman EJtl. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic. Hum Keprod 1997; 12: 687-691.
  • Pryor JL, bent-First M, Muallem A. Microdeletions in the Y chromosome of infertile men. H Engl J Med 1997; 336: 534- 539.
  • Simoni M, Gramoll J, Dwarniezak D. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67: 542-547.
  • bent-First MG, bol S, Muallem A. The incidence and possible relevance of Y-Linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Keprod 1996b; 2: 943-950.
  • Reijo K, Alagappan Kb, Patrizio P. Severe oligozoopermia resulting from deletions of the azoospermia factor gene. Lancet 1996a; 347: 1290-1293.
  • Stuppia L, Mastoprimiano G, Calabrese G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCK in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996; 72: 155-158
  • Vereb M, Agunik Al, Houston JT Absence of DAZ gene mutations in cases of non- obstructed azoospermia. Mol Hum Keprod 1997; 3: 55-59
  • Yashida A, Hakahori Y, buroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997; 3: 709-712.
  • Lahn BT, Page D. Functional coherence of the human Y chromosome. Science 1998; 278: 675-680.
  • brausz C, Bussani-Mastellone C, Granchi S. Screening for microdeletion of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Keprod 1999; 14:1717- 1721.
  • bleiman SE, Yogev L, Gamzu K. Three- generation evolution of Y-chromosome microdeletion. J Androl 1999; 20: 394-398.
  • Peterlin B, bunej T, Sinkovec J, Gligorievska H, Zorn B. Screening of Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Keprod 2002; I: 17-24.
  • Brown GM, Furlong KA, Sargent CA. Characterization of the coding sequence and fine mapping of the human DFFKY gene and comparative Dffry gene. Hum Mol Genet 1998; 7: 97-107.
  • bent-First M, Muallem A, Shultz J. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome
Year 2002, Volume: 15 Issue: 4, 227 - 232, 03.12.2016

Abstract

References

  • Hartung M, Devictor M, Codaccioni JL. Yq deletion and failure of spermatogenesis. Ann Genet 1998; 31: 21-26.
  • Robayashi K, Mizuno R, llida A. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994 ; 3: 1965-1967.
  • Reijo R, Lee T, Salo P, et at. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RHA-binding protein gene, nature Genet 1995; 10: 383-393.
  • The PSHRE Capri Workshop Group. Male infertility update. Plum Reprod 1998; 13: 2025-2032.
  • Bardoni B, Zuffardi O, Guioli S. A deletion map of the human Yq 11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; II: 443- 451.
  • Chandley AC, Cooke fiJ. Human male
  • infertility - Y linked genes and
  • spermatogenesis. Hum Mol Genet 1994; 3: 1449-1452.
  • Tiepolo L, Zuffardi O. Localization of factors
  • controlling spermatogenesis in the
  • non fluorescent portion of the human Y chromosome long arm. Hum Genet I976;34:
  • I 19-124.
  • Pitch T1, Richer CL, Pinsky L. Deletion of the long arm of the Y chromosome and review of
  • 3 0
  • Y chromosome microdeletions and sperm morphology
  • the Y chromosome abnormalities. Am J Med Genet 1985; 20: 31-42.
  • Andersson M, Page DC, Pettay D. Y chromosome translocations and mosaicism in the aetiology of 45,X maleness: Assignment of fertility to factor to distal Yq 11. Hum Genet 1988; 79: 2-7.
  • Johnson MD, Tho SPT, Behzadian A. Molecular scanning of Yq 11 (interval 6) in men with sertoli cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732-1737.
  • I. Share J, Drwinga tl, Wyandt II. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36: 394-397.
  • !2. Ma b, Sharkey A, birsch S. Towards the molecular localisation of the AZP locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29-33.
  • Ma b, Inglis JD, Sharkey A. A chromsome gene family with KHA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287-1295.
  • Vogt PH, Chandley AC, Hargreave TB. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis. Hum Genet 1992; 89: 491 - 496.
  • Foresta C, Ferlin A, Garolla A. High frequency of well-defined Y chromosome deletions in idiopathic sertoli cell only syndrome. Hum Keprod 1998; 13: 302-307.
  • Chai HIT, Salido EC, Yen PH. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 1997; 45: 355-361.
  • Vogt PH, Edelmann A, birsch S. Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yq 11. Hum Mol Genet 1996; 5: 933-943.
  • Foresta C, Ferlin A, Garolla A. Y chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82: 1075-1080.
  • Girardi Sb, Mielnik A, Schlegel PH. Submicroscopic deletions in the Y chromosome of infertile men. Hum He prod 1997; 12: 1635-1641.
  • bremer JAM, Tuerlings JttAM, Meuleman EJtl. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic. Hum Keprod 1997; 12: 687-691.
  • Pryor JL, bent-First M, Muallem A. Microdeletions in the Y chromosome of infertile men. H Engl J Med 1997; 336: 534- 539.
  • Simoni M, Gramoll J, Dwarniezak D. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67: 542-547.
  • bent-First MG, bol S, Muallem A. The incidence and possible relevance of Y-Linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Keprod 1996b; 2: 943-950.
  • Reijo K, Alagappan Kb, Patrizio P. Severe oligozoopermia resulting from deletions of the azoospermia factor gene. Lancet 1996a; 347: 1290-1293.
  • Stuppia L, Mastoprimiano G, Calabrese G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCK in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996; 72: 155-158
  • Vereb M, Agunik Al, Houston JT Absence of DAZ gene mutations in cases of non- obstructed azoospermia. Mol Hum Keprod 1997; 3: 55-59
  • Yashida A, Hakahori Y, buroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997; 3: 709-712.
  • Lahn BT, Page D. Functional coherence of the human Y chromosome. Science 1998; 278: 675-680.
  • brausz C, Bussani-Mastellone C, Granchi S. Screening for microdeletion of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Keprod 1999; 14:1717- 1721.
  • bleiman SE, Yogev L, Gamzu K. Three- generation evolution of Y-chromosome microdeletion. J Androl 1999; 20: 394-398.
  • Peterlin B, bunej T, Sinkovec J, Gligorievska H, Zorn B. Screening of Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Keprod 2002; I: 17-24.
  • Brown GM, Furlong KA, Sargent CA. Characterization of the coding sequence and fine mapping of the human DFFKY gene and comparative Dffry gene. Hum Mol Genet 1998; 7: 97-107.
  • bent-First M, Muallem A, Shultz J. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome
There are 41 citations in total.

Details

Journal Section Original Research
Authors

Deniz Sevinç This is me

Ahmet Zehir This is me

Anıl Biricik This is me

Semra Sertyel This is me

Semra Kahraman This is me

İlter Güney This is me

Publication Date December 3, 2016
Published in Issue Year 2002 Volume: 15 Issue: 4

Cite

APA Sevinç, D., Zehir, A., Biricik, A., Sertyel, S., et al. (2016). THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Medical Journal, 15(4), 227-232.
AMA Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. March 2016;15(4):227-232.
Chicago Sevinç, Deniz, Ahmet Zehir, Anıl Biricik, Semra Sertyel, Semra Kahraman, and İlter Güney. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal 15, no. 4 (March 2016): 227-32.
EndNote Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ (March 1, 2016) THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Medical Journal 15 4 227–232.
IEEE D. Sevinç, A. Zehir, A. Biricik, S. Sertyel, S. Kahraman, and İ. Güney, “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”, Marmara Med J, vol. 15, no. 4, pp. 227–232, 2016.
ISNAD Sevinç, Deniz et al. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal 15/4 (March 2016), 227-232.
JAMA Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. 2016;15:227–232.
MLA Sevinç, Deniz et al. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal, vol. 15, no. 4, 2016, pp. 227-32.
Vancouver Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. 2016;15(4):227-32.