Browse > Article
http://dx.doi.org/10.5352/JLS.2007.17.6.741

Comparative analysis of Y chromosomal microdeletions in Korean infertile men of 47,XXY and 46,XY karyotypes  

Huh, Jae-Won (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Kim, Woo-Young (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Kim, Dae-Soo (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Ha, Hong-Seok (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Lee, Ja-Rang (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Choi, Ook-Hwan (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University)
Nam, Ki-Man (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University)
Bae, Hwa-Jung (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University)
Choi, Jin (Department of Urology, School of Medicine, Kanazawa University)
Kim, Heui-Soo (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
Publication Information
Journal of Life Science / v.17, no.6, 2007 , pp. 741-747 More about this Journal
Abstract
In the azoospermic patients, there are many of undiagnosed factors related to genetic bases. Among them, Klinefelter's syndrome (47,XXY; KS) and Y-chromosomal microdeletion with normal karyotype(46,XY; YMNK) are the most frequent causes of male infertility. This research focused on the comparative analysis of YMNK (n = 66) and K5 (n = 30) patients suffered from male infertility in Korean population. We used the polymerase chain reaction (PCR) approach including 19 pairs of sequence-tagged site (STS) primers for detecting the Y-chromosomal microdeletion on AZFa, b, c regions, indicating that Y chromosomal microdeletions were almost evenly occurred in AZF all regions in Korean population. Comparative analysis indicated that 34.9% YMNK and 73.4% KS patients harbored the microdeleted Y-chromosome. It seems to be high instability of Y-chromosome in KS patients than that of YMNK infertility patients. Taken together, genome instability containing microdeletion could bring male infertility with the disturbance of normal spermatogenesis.
Keywords
Klinefelter's syndrome; Y-chromosomal microdeletionm; male infertility; AZF;
Citations & Related Records
연도 인용수 순위
  • Reference
1 van der Ven, K., M. Montag, B. Peschka, J. Leygraaf, G. Schwanitz, G. Haidl, D. Krebs and H. van der Ven. 1997. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod. 3, 699-704   DOI   ScienceOn
2 Vogt, P. H., A. Edelmann, S. Kirsch, O. Henegariu, P. Hirschmann, F. Kiesewetter, F. M. Kohn, W. B. Schill, S. Farah, C. Ramos, M. Hartmann, W. Hartschuh, D. Meschede, H. M. Behre, A. Castel, E. Nieschlag, W. Weidner, H. J. Grone, A. Jung, W. Engel and G. Haidl. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5, 933-943   DOI   ScienceOn
3 Yen, P. H. 1998. A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54, 5-12   DOI   ScienceOn
4 Zitzmann, M., M. Brune, V. Vieth and E. Nieschlag. 2002. Monitoring bone density in hypogonadal men by quantitative phalangeal ultrasound. Bone 31, 422-429   DOI   ScienceOn
5 Jiang, M. C., Y. R. Lien, S. U. Chen, T. M. Ko, H. N. Ho and Y. S. Yang. 1999. Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. Fertil. Steril. 71, 1029-1032   DOI   ScienceOn
6 Namiki, M. 2000. Genetic aspects of male infertility. World J. Surg. 24, 1176-1179   DOI   ScienceOn
7 Nielsen, J. and M. Wohlert. 1991. Chromosome anbnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum. Genet. 70, 81-83
8 Okutman-Emonts, O., S. Pehlivan, E. Tavmergen, E. N. Tavmergen-Goker and F. Ozkinay. 2004. Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men. Genet. Couns. 15, 199-205
9 Osterlund, C., E. Segersteen, S. Arver and A. Pousette. 2000. Low number of Y-chromosome deletions in infertile azoospermic men at a Swedish andrology centre. Int. J. Androl. 23, 225-229   DOI   ScienceOn
10 Peterlin, B., T. Kunej and D. Hristovski. 2004. Diagnostic test for Y chromosome microdeletion screening in male infertility. Genet. Test. 8, 45-49   DOI   ScienceOn
11 Tiepolo, L. and O. Zuffardi. 1976. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Gent. 28, 119-124
12 Peterlin. B., T. Kunej, J. Sinkovec, N. Gligorievska and B. Zorn. 2002. Screening for Y chromosome microdeletions in 226 Slovenian subfertile men. Hum. Reprod. 17, 17-24
13 Philip, J., C. Lundsteen, D. Owen and K. Hirschhom. 1976. The frequency of chromosome aberrations in tall men with special reference to 47,XYY and 47,XXY. Am. J. Hum. Genet. 28, 404-411
14 Simoni, M., A. Kamischke and E. Nieschlag. 1998. Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum. Reprod. 13, 1764-1768   DOI   ScienceOn
15 Kerr, N. J., J. Zhang, F. Y. Sin, P. Benny and I. L. Sin. 2000. Frequency of microdeletions in the azoospermia factor region of the Y-chromosome of New Zealand men. N. Z. Med. J. 113, 468-470
16 Klinefelter, H. F., E. C. Reifenstein and F. Albright. 1942. Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle stimulating hormone. J. Clin. Endocrinol. 2, 615-627   DOI
17 Krausz, C., G. Forti and K. McElreavey. 2003. The Y chromosome and male fertility and infertility. Int. J. Androl. 26, 70-75   DOI   ScienceOn
18 Kremer, J. A., J. H. Tuerlings, G. Borm, L. H. Hoefsloot, E. J. Meuleman, D. D. Braat, H. G. Brunner and H. M. Merkus. 1998. Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations? Hum. Reprod. 3, 2808-2811
19 Lahn, B. T. and D. C. Page. 1999. Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat. Genet. 21, 429-433   DOI   ScienceOn
20 Kuroda-Kawaguchi, T., H. Skaletsky, L. G. Brown, P. J. Minx, H. S. Cordum, R. H. Waterston, R. K. Wilson, S. Silber, R. Oates, S. Rozen and D. C. Page. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286   DOI   ScienceOn
21 Lanfranco, F., A. Kamischke, M. Zitzmann and E. Nieschlag. 2004. Klinefelter's syndrome. Lancet 364, 273-283   DOI   ScienceOn
22 Levron, J., A. Aviram-Goldring, I. Madgar, G. Raviv, G. Barkai and J. Dor. 2000. Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome. Fertil. Steri. 74, 925-929   DOI   ScienceOn
23 Medica, I., N. Gligorievska, M. Prenc and B. Peterlin. 2005. Y microdeletions in the Istria county, Croatia. Asian J. Androl. 7, 213-216   DOI   ScienceOn
24 Denschlag, D., C. Tempfer, M. Kunze, G. Wolff and C. Keck. 2004. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil. Steril. 82, 775-779   DOI   ScienceOn
25 Elliott, D. J. 2004. The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis. Int. J. Androl. 27, 328-334   DOI   ScienceOn
26 Foresta, C., A. Ferlin, A. Garolla, M. Rossato, S. Barbaux and A. de Bortoli. 1997. Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab. 82, 1075-1080   DOI   ScienceOn
27 Hinney, B., M. Guttenbach, M. Schmid, W. Engel and H. W. Michelmann. 1997. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. Fertil. Steril. 68, 718-720   DOI   ScienceOn
28 Foresta, C., C. Galeazzi, A. Bettella, M. Stella and C. Scandellari. 1998. High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter's syndrome. J. Clin. Endocrinol. Metab. 83, 203-205   DOI   ScienceOn
29 Friel, A., J. A. Houghton, M. Maher, T. Smith, S. Noel, A. Nolan, D. Egan and M. Glennon. 2001. Molecular detection of Y chromosome microdeletions: an Irish study. Int. J. Androl. 24, 31-36.   DOI   ScienceOn
30 Hargreave, T. B. 2000. Genetic basis of male fertility. Br. Med. Bull. 56, 650-671   DOI   ScienceOn
31 Kent-First, M. G., S. Kol, A. Muallem, R. Ofir, D. Manor, S. Blazer, N. First and J. Itskovitz-Eldor. 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   DOI   ScienceOn
32 Aho, M., K. Harkonen, A. M. Suikkari, V. Juvonen, L. Anttila and J. Lahdetie. 2001. Y-chromosomal microdeletions among infertile Finnish men. Acta. Obstet. Gynecol. Scand. 80, 652-656   DOI   ScienceOn
33 Ambasudhan, R., K. Singh, J. K. Agarwal, S. K. Singh, A. Khanna, R. K. Sah, I. Singh and R. Raman. 2003. Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J. Biosci. 28, 605-612   DOI   ScienceOn
34 Bhasin, S., K. Ma and D. M. de Kretser. 1997. Y-chromosome microdeletions and male infertility. Ann. Med. 29, 261-263   DOI   ScienceOn
35 Chiang, H. S., S. D. Yeh, C. C. Wu, B. C. Huang, H. J. Tsai and C. L. Fang. 2004. Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia. Asian J. Androl. 6, 369-375
36 Brown, G. M., R. A. Furlong, C. A. Sargent, R. P. Erickson, G. Longepied, M. Mitchell, M. H. Jones, T. B. Hargreave, H. J. Cooke and N. A. Affara. 1998. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum. Mol. Genet. 7, 97-107   DOI   ScienceOn
37 Chai, N.N., E. C. Salido and P. H. Yen. 1997. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 45, 355-361   DOI   ScienceOn
38 Chang, P. L., M. V. Sauer and S. Brown. 1999. Y chromosome microdeletion in a father and his four infertile sons. Hum. Reprod. 14, 2689-2694   DOI
39 Dada, R., N. P. Gupta and K. Kucheria. 2003. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J. Biosci. 28, 163-168   DOI   ScienceOn