Genetic risk of azoospermia factor (AZF) microdeletions in idiopathic cases of azoospermia and oligozoospermia in central Indian population

Journal of Clinical and Diagnostic Research

Volumn 8, Issue 3, 2014, Pages 88-91

  Ambulkar, Prafulla S ^a   Sigh, Ramji ^a   Reddy, M V R ^a   Varma, Poonam S ^a   Gupta, Dilip O ^a   Shende, Moreshwar R ^a   Pal, Asoke K ^a  

^a MAHATMA GANDHI INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

AZF factor; Male infertility; Y microdeletions

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ADULT; ARTICLE; AZOOSPERMIA; CHROMOSOME ANALYSIS; CONTROLLED STUDY; GENE DELETION; HEREDITY; HISTOLOGY; HUMAN; HUMAN TISSUE; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; Y CHROMOSOME;

EID: 84896449836     PISSN: 2249782X     EISSN: 0973709X     Source Type: Journal    
DOI: 10.7860/jcdr/2014/7680.4116     Document Type: Article

References (24)

1. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocrine Rev. 2001; 22: 226-39.
2. Pal A, Waghmare J, Tarnekar A, Rawlani S, Ingole I. Genetic aspect of human infertility. Pres. Cyto. & Genetics AICCG. 2007; 13: 106-14.
3. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet. 1995; 10: 383-93.
4. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976; 34: 119-24.
5. Vogt PH, Edelmann A, Krisch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996; 5: 233-43.
6. Foresta C, Ferlin A, Moro E. Deletion and expression analysis of AZFa genes on the Human Y-chromosome revealed a major role for DBY in male infertility. Hum Mol Genet. 2000; 9: 1161-69.
7. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science. 1997; 278: 675-79.
8. Thangraj K, Gupta JN, Pavani K, Reddy AG, Subramainan S, et al. Y chromosome deletion in azoospermic men in India. J Androl. 2003; 24: 588-97.
9. Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, et al. Laboratory guidance for molecular diagnosis of Y chromosomal microdeletions. J Androl. 1999; 22: 292-99.
10. World Health Organization (WHO). Laboratory manual for the examination of human semen and sperm - cervical mucus interaction. IV Edition 2000; Cambridge University Press, Cambridge U.K.
11. Sambrook J, Russell DW. Molecular cloning: a laboratory manual 2000:(New York: Cold Spring Harbour Press).
12. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, et al. The Human Y chromosome: A 43-interval map based on naturally occurring deletions. Science. 1992; 258: 52-9.
13. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod. 1999; 14: 1722-26.
14. Sen S, Pasi AR, Dada R, Shamsi MB, Modi M. Prevalence, phenotypes and screening markers for the Indian population. J Assist Reprod Genet. 2013; 324: 413-22.
15. Tse JY, Yeung WS, Lau EY, Ng EH, So WW, et al. Deletions within the azoospermia factor subregions of the Y-chromosome in Hong Kong Chinese men with severe male-factor infertility: controlled clinical study. Hong Kong Med J. 2000; 6: 143-46.
16. Wettasinghe TK, Jayasekara RW, Dissanayake VHW. The low frequency of Y chromosome microdeletions in subfertile males in a sinhalese populations of Srilanka. Ind J Hum Genet. 2012; 18(3): 320-25.
17. Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC. Use of ethnicity-specific sequences tag site markers for Y chromosome microdeletion studies. Genet Test & Mol Biomarkers. 2011; 15: 451-59.
18. Dada R, Gupta NP, Kucheria K. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J Biosci. 2003; 28: 163-68.
19. Ambasudhan R, Singh K, Agarwal JK, Singh SK, Khanna A, et al. Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J Biosci. 2003; 28: 605-12.
20. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, et al. Screening for Y chromosome microdeletions in infertile Indian males: Utility of simplified multiplex PCR. Ind J Med Res. 2008; 127: 124-32.
21. Singh K, Raman R. Male infertility: Y chromosome deletion and testi cular aetiology in cases of azoo-/oligospermia. Indian J Exp Bio. 2005; 43: 1088-92.
22. Geoffroy-Siraudin C, Aknin-Seiffer I, Metzler-Guillemain C, Ghalamoun-Slaimi R, Bonzi MF, et al. Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome. Hum Reprod. 2007; 22: 1567-72.
23. Stouffs K, Tournaye H, Liebaers I, Lissens W. Male infertility and the involvement of the X chromosome. Hum Reprod Update. 2009; 15: 623-37.
24. Nakada K, Sato A, Yoshida K, Morita T, Tanaka H, et al. Mitochondrial-related male infertility. Proc Natl Acad Sci USA. 2006; 103: 15148-53.