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World Journal of Urology

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01-12-2013 | Original Article

Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population

Authors: Quan Li, Di Qiao, Ning-hong Song, Yi Ding, Zeng-jun Wang, Jie Yang, Wei Wang, Chang-jun Yin

Published in: World Journal of Urology | Issue 6/2013

Abstract

Purpose

To investigate the effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the South Chinese population.

Methods

In this study, the prevalence and characteristics of different DAZ copy cluster deletions and their association with spermatogenic failure were analyzed. A total of 186 infertile men with different spermatogenic impairments and 190 normozoospermic fertile men were studied. Three DAZ-specific single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined using polymerase chain reaction (PCR)–restriction fragment length polymorphism and routine PCR.

Results

Gr/gr deletions were observed in a total of 9 of the 190 normozoospermic fertile men, and 11 gr/gr deletions were found in 186 infertile men. In addition, 3 b2/b3 deletions were identified in the infertile, but not in the fertile men. DAZ-SNV loci analysis revealed 4 DAZ copies that had 8 gr/gr-DAZ3/DAZ4 deletions and 1 gr/gr-DAZ1/DAZ2 deletion in the fertile men (8/190 vs. 1/190, p = 0.037). Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0.011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0.002).

Conclusions

Analysis of DAZ gene copies in AZFc microdeletions suggests that the contribution of the different deletions to male infertility varies. Removing DAZ1/DAZ2 seems to be associated with spermatogenic impairment, whereas removing DAZ3/DAZ4 seems to have little or no effect on fertility in the South Chinese population.

Disteche CM, Brown L, Saal H et al (1986) Molecular detection of a translocation (Y; 15) in a 45, X male. Hum Genet 74:372–377PubMedCrossRef

Kim JW, Park SY, Ryu HM et al (2012) Molecular and clinical characteristics of 26 cases with structural Y chromosome aberrations. Cytogenet Genome Res 136:270–277PubMedCrossRef

Knebel S, Pasantes JJ, Thi DA et al (2011) Heterogeneity of pericentric inversions of the human Y chromosome. Cytogenet Genome Res 132:219–226PubMedCrossRef

Vogt PH, Edelmann A, Kirsch S et al (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943PubMedCrossRef

Simon M, Bakker E, Krausz C (2004) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240–249CrossRef

Kim B, Lee Y, Kim Y et al (2009) Polymorphic expression of DAZ proteins in the human testis. Hum Reprod 24:1507–1515PubMedCrossRef

Writzl K, Zorn B, Peterlin B (2005) Copy number of DAZ genes in infertile men. Fertil Steril 84:1522–1525PubMedCrossRef

Fernandes AT, Fernandes S, Goncalves R et al (2006) DAZ gene copies: evidence of Y chromosome evolution. Mol Hum Reprod 12:519–523PubMedCrossRef

Reynold N, Cooke HJ (2005) Role of the DAZ genes in male infertility. Reprod Biomed Online 10:72–80CrossRef

10.

Skaletsky H, Kuroda-Kawaguchi T, Minx PJ et al (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequences classes. Nature 423:825–837PubMedCrossRef

11.

Repping S, Skaletsk H, Brown L et al (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247–251PubMedCrossRef

12.

Kuroda-Kawaguchi T, Skaletsky H, Brown LG et al (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in the infertile men. Nat Genet 29:279–286PubMedCrossRef

13.

Hucklenbroich K, Gromoll J, Heinrich M et al (2005) Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 20:191–197PubMedCrossRef

14.

Ferlin A, Tessari A, Ganz F et al (2005) Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 42:209–213PubMedCrossRef

15.

Visser L, Westerveld GH, Korver CM et al (2009) Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod 24:2667–2673PubMedCrossRef

16.

Stouffs K, Tournaye H, Van der Elst J et al (2008) Do we need to search for gr/gr deletions in infertile men in a clinical setting? Hum Reprod 23:1193–1199PubMedCrossRef

17.

Stouffs K, Lissens W, Tournaye H et al (2011) What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum Reprod Update 17:197–209PubMedCrossRef

18.

World Health Organization (1999) Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. Cambridge University Press, Cambridge

19.

Repping S, van Daalen SK, Korver CM et al (2004) A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046–1052PubMedCrossRef

20.

Saxena R, de Vries JW, Repping S et al (2000) Four DAZ gene in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256–267PubMedCrossRef

21.

Shahid M, Dhillon VS, Khalil HS et al (2011) Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet 19:23–29PubMedCrossRef

22.

Zhang F, Lu C, Li Z et al (2007) Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J Med Genet 44:437–444PubMedCrossRef

23.

Yang Y, Ma M, Li L et al (2010) Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population. Int J Androl 33:745–754PubMedCrossRef

24.

Yang Y, Xiao CY, Zhou CA et al (2006) DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men. Asian J Androl 8:183–187PubMedCrossRef

25.

Wu B, Lu NX, Xia YK et al (2007) A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 22:1107–1113PubMedCrossRef

Title: Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population
Authors: Quan Li
Di Qiao
Ning-hong Song
Yi Ding
Zeng-jun Wang
Jie Yang
Wei Wang
Chang-jun Yin
Publication date: 01-12-2013
Publisher: Springer Berlin Heidelberg
Published in: World Journal of Urology / Issue 6/2013
Print ISSN: 0724-4983
Electronic ISSN: 1433-8726
DOI: https://doi.org/10.1007/s00345-013-1058-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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