Male infertility: Polymerase chain reaction-based deletion mapping of genes on the human chromosome

Singapore Medical Journal

Volumn 48, Issue 12, 2007, Pages 1140-1142

  Viswambharan, N ^a   Suganthi, R ^a   Simon, A M ^a   Manonayaki, S ^a  

^a Dr GR Damodaran College of Science   (India)

Author keywords

Azoospermia factor; Gene mapping; Male infertility; Y chromosome microdeletion

Indexed keywords

ARTICLE; AZOOSPERMIA; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HUMAN; KARYOTYPE; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; SPERMATOGENESIS; Y CHROMOSOME; ADULT; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETICS; METHODOLOGY; PROBABILITY; REFERENCE VALUE; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY;

ADULT; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, Y; HUMANS; INFERTILITY, MALE; MALE; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; PROBABILITY; REFERENCE VALUES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION;

EID: 38449105139     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Mosher WD. Reproductive impairments in the United States 1965-1982. Demography 1985; 22:415-30.
2. 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.
3. Qureshi SJ, Ross AR, Ma K, et al. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod 1996; 2:775-9.
4. Simoni M, Gromoll J, Dworniczak B, et al. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67:542-7.
5. Foote S, Vollrath D, Hilton A, Page DC. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992; 258:60-6.
6. Vollrath D, Foote S, Hilton A, et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992; 258:52-9.
7. Reijo R, Lee TY, Salo P, 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.
8. Vogt PH, Edelmann A, Kirsch, S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5:933-943.
9. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997; 278:675-80.
10. Simoni M, Bakker E, Eurlings MC, et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999; 22:292-9.
11. Krausz C, Rajpert-De Meyts E, Frydelund-Larsen L, et al. Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J Clin Endocrinol Metab 2001; 86:2638-42.
12. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility - Initiative for international quality control. Hum Reprod 1998; 13:1764-7.
13. Stuppia L, Gatta V, Calabrese G, et al. A quarter of men with idioazoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq 11. Hum Genet 1998; 102: 566-70.
14. Nakahori Y, Kuroki Y, Komaki R, et al. The Y chromosome region essential for spermatogenesis. Horm Res 1996; 46(suppl 1):20-3.
15. Selva J, Kanafani S, Prigent Y, et al. Incidence of AZF (Azoospermia Factor) deletions and familial forms of infertility among patients requiring intracytoplasmic spermatozoa injection (ICSI). J Assist Reprod Genet 1997; 14:593-5.
16. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12:1635-41.
17. Foresta C, Ferlin A, Garolla A, et al. Y-chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82:1075-80.
18. Pryor JL, Kent-First M, Muallem A, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997; 336:534-9.
19. de Vries JW, Hoffer MJ, Repping S, et al. Reduction copy number of DAZ genes in subfertile and infertile men. Fertil Steril 2002; 77:68-75.
20. Thangaraj K, Gupta NJ, Pavani K, et al. Y chromosome deletions in azoospermic men in India. J Androl 2003; 24:588-97.
21. Sun C, Skaletsky H, Birren B, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999; 23:429-32.