Abstract
Purpose: To determine the relationships between idiopathic oligo- or azoospermia and microdeletions of the Y chromosome.
Methods: Eighteen Y-linked sequence-tagged sites (STSs) in AZF (Azoospermia Factor) region were screened by means of multiplex PCR (Polymerase Chain Reaction) in 50 idiopathic infertile men, including 16 patients with azoospermia, 13 severe oligospermia, and 21 oligospermia.
Results: Microdeletions in the genomic DNA were observed in 8 of 50 cases, 3 with azoospermia, 1 severe oligospermia, and 4 oligospermia. Total deletion rate was 16.0% (8/50). The deletion regions were concentrated on AZFd and AZFc.
Conclusions: Microdeletions of the Y chromosome are an important cause for idiopathic oligo- or azoospermia. Multiplex PCR is a useful technique for detecting the microdeletions. To avoid transmission to their offspring, patients with idiopathic oligo- or azoospermia should be screened for microdeletions of the Y chromosome before ICSI treatment for infertility.
Keywords: idiopathic oligo- or azoospermia, male infertility, multiplex PCR, Y chromosome microdeletion
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REFERENCES
- 1.Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119–124. doi: 10.1007/BF00278879. [DOI] [PubMed] [Google Scholar]
- 2.Kostiner DR, Turek PJ, Reijo RA. Male infertility: Analysis of the markers and genes on the human Y chromosome. Hum Reprod. 1998;13:3032–3038. doi: 10.1093/humrep/13.11.3032. [DOI] [PubMed] [Google Scholar]
- 3.Kent-First MG, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, McIsner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J. Defining regions of theY-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by chromosome microdeletion detection. Mol Reprod Dev. 1999;53(1):27–41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. [DOI] [PubMed] [Google Scholar]
- 4.Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992;340:17–18. doi: 10.1016/0140-6736(92)92425-f. [DOI] [PubMed] [Google Scholar]
- 5.Kent-First MG, Kol S, Muallem A, Ofir R, Manor D, Blazer S, First N, Itskovitz-Eldor J. The incidence and possible relevance of Y-linked micro-deletion in babies born after intracytoplasmic sperm injuction and their infertile fathers. Mol Hum Reprod. 1966;2:943–950. doi: 10.1093/molehr/2.12.943. [DOI] [PubMed] [Google Scholar]
- 6.Chang PL, Sauer MV, Brown S. Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod. 1999;14:2689–2694. doi: 10.1093/humrep/14.11.2689. [DOI] [PubMed] [Google Scholar]
- 7.Stuppia L, Mastroprimiano G, Calabrese G, Peila R, Tenaglia R, Palka G. Micro deletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patient with idiopathic oligo or azoospermia. Cytogenet Cell Genet. 1996;72:155–158. doi: 10.1159/000134174. [DOI] [PubMed] [Google Scholar]
- 8.Voget PH. Human chromosome deletion in Yq11, AZF candidate genes and male infertility: History and update. Mol Hum Reprod. 1998;4:739–744. doi: 10.1093/molehr/4.8.739. [DOI] [PubMed] [Google Scholar]
- 9.Oliva R, Margarit E, Ballesca JL, Carrió A, Sánchez A, Milà M, Jiménez L, Alvarez-Vijande JR, Ballesta F. Prevalence of Y chromosome micro-deletion in oligospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril. 1998;70:506–510. doi: 10.1016/s0015-0282(98)00195-2. [DOI] [PubMed] [Google Scholar]
- 10.Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S. PCR analysis of the Y chromosome long arm in azoospermic patients: Evidence for a second locus required for spermatogenesis. Hum Mol Genet. 1994;3:1965–1967. doi: 10.1093/hmg/3.11.1965. [DOI] [PubMed] [Google Scholar]