Genetic evaluation of infertile men

Human Reproduction

Volumn 14, Issue 1, 1999, Pages 33-38

  Kleiman, S E ^a   Yogev, L ^b   Gamzu, R ^b   Hauser, R ^b   Botchan, A ^b   Lessing, J B ^b   Paz, G ^b   Yavetz, H ^b  

^a LIS MATERNITY HOSPITAL   (Israel)

^b NONE

Author keywords

Infertility; Karyotype; Microdeletions; Testis

Indexed keywords

DNA;

ADULT; ANDROLOGY; ARTICLE; AZOOSPERMIA; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CONTROLLED STUDY; CRYPTORCHISM; GENE DELETION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPING; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; SEX CHROMOSOME; SPERM; TESTIS; TESTIS BIOPSY; Y CHROMOSOME;

EID: 0032958855     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/14.1.33     Document Type: Article

References (33)

1. Alvesalo, L. and de la Chapelle, A. (1981) Tooth sizes in two males with deletions of the long arm of ihe Y chromosome. Ann. Hum. Genet., 54, 49-54.
2. Andersson, M., Page, D.C., Pettay, D. et al. (1988) Y: autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum. Genet., 79, 2-7.
3. Bardoni, B., Zuffardi, O., Guioli, S. et al. (1991) A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics, 11, 443-451.
4. Court-Brown, W.M., Jacobs, P. and Brunton, M. (1965) Chromosome studies on randomly chosen men and women. Lancet, ii, 561-562.
5. De Kretser, D.M. (1997) Male infertility. Lancet, 349, 787-790.
6. Edwards, R.G. and Bishop, C.E. (1997). On the origin and frequency of the Y chromosome deletions responsible for severe male infertility. Mol. Hum. Reprod., 3, 549-554.
7. Ferguson-Smith, M., Cooke, A., Affara, N. et al. (1990) Genotype-phenotype correlations in XX males and the bearing on current theories of sex determination. Hum. Genet., 84, 198-202.
8. Foote, S., Vollrath, D., Hilton, A. et al. (1992) The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science, 254, 60-66.
9. Girardi, S.K., Meilnik, A. and Schlegel, P.N. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 12, 1635-1641.
10. Graves, J.M. (1995) The origin and function of the mammalian Y chromosome and Y-borne genes - an evolving understanding. BioEssays, 17, 311-320.
11. Jaffe, T. and Oates, R.D. (1994) Genetic abnormalities and reproductive failure. Urol. Clin. North Am., 21, 389-408.
12. Kent-First, M.G., Kol, S., Muallem, A. et al. (1996) The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod., 2, 943-950.
13. Kobayashi, K., Mizun, K., Hida, A. et al. (1994) PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Mol. Genet., 3, 1965-1967.
14. Kremer, J.A.M., Tuerlings, J.H.A.M., Meuleman, E.J.H. et al. (1997) Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum. Reprod., 12, 687-691.
15. Ma, K., Sharkey, A., Kirsch, S. et al. (1992) Towards the molecular localization of the AZF locus: mapping of the microdeletions in azoospermic men within 14 subinterval 6 of the human Y chromosome. Hum. Mol. Genet., 1, 29-33.
16. Ma, K., Inglis, J.D., Sharkery A. et al. (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell, 75, 1287-1295.
17. Najmabadi, H., Huang, V., Yen, P. et al. (1996) Substantial prevalence of microdeletions of the chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using sequence-tagged site-based mapping strategy. J. Clin. Endocrinol. Metab., 81, 1347-1352.
18. Pandiyan, N. and Jequier, A.M. (1996) Mitotic chromosomal anomalies among 1210 infertile men. Hum. Reprod., 11, 2604-2608.
19. Pryor, J.L., Kent-First, M., Muallem, A. et al. (1997) Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 336, 534-539.
20. Qureshi, S.J., Ross, A.R., Ma, K. et al. (1996) Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol. Hum. Reprod., 2, 775-779.
21. Reijo, R., Lee, T.Y., Alagappan, R. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet., 10, 383-392.
22. Reijo, R., Raaji, K.A., Pascuale, P. et al. (1996) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet, 347, 1290-1293.
23. Saxena, R., Brown, L.G., Hawkins, T. et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet., 14, 292-299.
24. Schempp, W., Binkele, A., Arnemann, J. et al. (1995) Comparative mapping of YRRM-and TSPY-related cosmids in man and hominoid apes. Chrom. Res., 3, 227-234.
25. Stuppia, L., Calabrese, G., Franchi, P.G. et al. (1996) Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. Am. J. Hum. Genet., 59, 1393-1395.
26. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the non fluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119-124.
27. Van Assche, E., Bonduelle, M. and Toumaye, H. (1996) Cytogenetics of infertile men. Hum. Reprod., 11 (suppl.4), 1-24.
28. 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.
29. Vogt, P., Chandley, A.C., Hargreave, T.B. et al. (1992) Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum. Genet., 89, 491-496.
30. Vogt, P.H., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 5, 933-943.
31. Vollrath, D., Foote, S., Hilton, A. et al. (1992) The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science, 258, 52-59.
32. Wyandt, H., Kasprzak, A., Lamb, K. et al. (1982) Human chromosome 2 rodring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet. Cell Genet., 33, 222-231.
33. Yen, P.H., Xiao-Miao, L., Siao-Ping, T. et al. (1990) Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell, 61, 603-610.