Screening for AZFc partial deletions in dravidian men with nonobstructive azoospermia and oligozoospermia

Genetic Testing and Molecular Biomarkers

Volumn 19, Issue 3, 2015, Pages 150-155

  Vijesh, Vijayabhavanath Vijayakumaran ^a   Nambiar, Vandana ^a   Mohammed, Surayya I K ^a   Sukumaran, Shervin ^a   Suganthi, Ramaswamy ^a  

^a Dr GR Damodaran College of Science   (India)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; TESTOSTERONE;

ADULT; ARTICLE; AZOOSPERMIA; CHROMOSOME DELETION; CONTROLLED STUDY; DRAVIDIAN PEOPLE; FOLLITROPIN BLOOD LEVEL; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; OLIGOSPERMIA; PREVALENCE; TESTOSTERONE BLOOD LEVEL; Y CHROMOSOME; CASE CONTROL STUDY; ETHNOLOGY; GENE DELETION; GENETIC DISEASES, Y-LINKED; GENETICS; INDIA; INFERTILITY, MALE; MIDDLE AGED;

ADULT; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, Y; GENETIC DISEASES, Y-LINKED; HUMANS; INDIA; INFERTILITY, MALE; MALE; MIDDLE AGED; PREVALENCE; SEQUENCE DELETION;

EID: 84924407187     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2014.0251     Document Type: Article

References (39)

1. Bunyan DJ, Callaway JL, Laddach N (2012) Detection of partial deletions of Y chromosome AZFc in infertile men using the multiplex ligation-dependent probe amplification assay. J Reprod Infertil 13:174-178.
2. Census of India (2011) Family-wise grouping of the 122 Scheduled and Non-Scheduled Languages-2001. Available at www.censusindia.gov.in/Census-Data-2001/Census-Data- Online/Language/statement9.aspx, accessed August 9, 2014.
3. Eloualid A, Rhaissi H, Reguig A, et al. (2012) Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One 7:e34902.
4. Ferlin A, Arredi B, Speltra E, et al. (2007) Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metabol 92:762-770.
5. Fernando L, Gromoll J, Weerasooriya TR, et al. (2006) Ychromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl 8:39-44.
6. Foresta C, Ferlin A, Garolla A, et al. (1998) High frequency of well-defined Y chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 13:302-307.
7. Giachini C, Guarducci E, Longepied G, et al. (2005) The gr/gr deletion (s): a new genetic test in male infertility. J Med Genet 42:497-502.
8. Giachini C, Laface I, Guarducci E, et al. (2008) Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet 124:399-410.
9. 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 20:191-197.
10. Imken L, El Houate B, Chafik A, et al. (2007). AZF microdeletions and partial deletions of the AZFc region on the Y chromosome in Moroccan men. Asian J Androl 9:674-678.
11. Kleiman SE, Yogev L, Hauser R, et al. (2007) Expression profile of AZF genes in testicular biopsies of azoospermic men. Hum Reprod 22:151-158.
12. Krausz C, Hoefsloot L, Simoni M, et al. (2014) EAA/EMQN best practice guidelines for molecular diagnosis of Y chromosomal microdeletions: state-of-the-Art 2013. Andrology 2:5-19.
13. 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 infertile men. Nat Genet 29:279-286.
14. Lu C, Zhang J, Li Y, et al. (2009) The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet 18:1122-1130.
15. Lynch M, Cram DS, Reilly A, et al. (2005) The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 11:507-512.
16. Machev N, Saut N, Longepied G, et al. (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 41:814-825.
17. Navarro-Costa P, Pereira L, Alves C, et al. (2007) Characterizing partial AZFc deletions of the Y chromosome with amplicon-speciWc sequence markers. BMC Genomics 8:342.
18. Ravel C, Chantot-Bastaraud S, El Houate B, et al. (2009) Y chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril 92:1924-1933.
19. Repping S, Skaletsky 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 35:247-251.
20. 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 83:1046-1052.
21. Rozen SG, Marszalek JD, Irenze K, et al. (2012) AZFc Deletions and Spermatogenic Failure: a population-based survey of 20, 000 Y chromosomes. Am J Hum Genet 91:890-896.
22. Sachdeva K, Saxena R, Majumdar A, et al. (2011) Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies. Genet Test Mol Biomarkers 15:451-459.
23. Saliminejad K, Sadeghi MR, Kamali K, et al. (2012) Discrepancy in the frequency of Y chromosome microdeletions among iranian infertile men with azoospermia and severe oligozoospermia. Genet Test Mol Biomarkers 16:931-934.
24. Sen S, Pasi AR, Dada R, et al. (2013) Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population. J Assist Reprod Genet 30:413-422.
25. Shahid M, Dhillon VS, Khalil HS, et al. (2011) Associations of Y chromosome subdeletion gr/gr with the prevalence of Ychromosome haplogroups in infertile patients. Eur J Hum Genet 19:23-29.
26. Simoni 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 27:240-249.
27. Simoni M, Tüttelmann F, Gromoll J, et al. (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online 16: 289-303.
28. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837.
29. Stahl PJ, Mielnik A, Margreiter M, et al. (2011) Diagnosis of the gr/gr Y chromosome microdeletion does not help in the treatment of infertile American men. J Urol 185:233-237.
30. Suganthi R, Manonayaki S, Benazir JF, (2009) Molecular analysis of Y-chromosome microdeletions in infertile men. Int J Med Sci 2:54-60.
31. Suganthi R, Vijesh VV, Vandana N, et al. (2014) Y chroomosomal microdeletion screening in the workup of male infertility and its current status in India. IJFS 7:253-266.
32. Suhasini G, Sonaa E, Shila S, et al. (2011). Genetic admixture studies on four in situ evolved, two migrant and twenty-one ethnic populations of Tamil Nadu, South India. J Genet 90: 191-202.
33. Van Der Ven K, Montag M, Peschka B, et al. (1997) Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod 3:699-704.
34. World Health Organization 2010) WHO laboratory manual for the examination and processing of human semen World Health Organization, 5th edition. WHO Press, Geneva, Switzerland
35. Wu B, Lu NX, Xia YK, et al. (2007) A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in the Han-Chinese population. Hum Reprod 22:1107-1113.
36. Yang Y, Ma M, Li L, et al. (2008) Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment. Hum Reprod 23:2167-2172.
37. Zhang F, Li Z, Wen B, et al. (2006) A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet 70:304-313.
38. 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 44:437-444.
39. Zhang YS, Dai RL, Wang RX, et al. (2014) Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China. Andrologia 46:535-540.