Summary
We have examined constitutional chromosome abnormalities and fragile sites in 40 patients with azoospermia. Chromosome abnormalities were found in four cases. Three cases showed a deletion of the long arm of the Y chromosome 46,X,del(Yq) and the other case had a ring of G group chromosome 46,XY,r(G). In a rare fragile sites test, four fragile site carriers were detected and three rare autosomal fragile sites were identified; fra(8)(q24.1), fra(11)(p15.1), and fra(17)(p12). The expression of these fragile sites were induced specifically by AT-specific DNA ligands, such as distamycin A and Hoechst 33258. In addition, one patient was found to be the case of double ascertainment of fragile sites, fra(8)(q24.1) and fra(17)(p12). The overall frequency of distamycin A-inducible fragile sites in azoospermia patients appeared to be higher than those reported for Japanese healthy subjects and cancer patients. However, no significant relation among fragile sites, clinical and histological findings has been detected so far.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Baba Y, Isoyama, R, Takihara H, Sakatoku, J, Murano I, Tsukahara M (1989): Report of a 46,X,del(Y)(q11.2) male with azoospermia. Jpn J Fertil Steril34: 922–925
Berger R, Bloomfield CD Sutherland GR (1985): Report of the committee on chromosome rearrangements in neoplasia and on fragile sites (Human Gene Mapping 8). Cytogenet Cell Genet40: 490–535
Bühler EM (1985): Clinical and cytologic impact of Y-chromosome abnormalities. In The Y chromosome, Part B, Clinical aspects of Y chromosome abnormalities: Alan R. Liss, Inc., New York, pp 61–93
Davis RM (1981): Localization of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet18: 161–195
De Braekeleer M, Dao TN (1991): Cytogenetic studies in male infertility. Hum Reprod6: 245–250
Hazama M, Nakano M, Shinozaki M, Fujisawa M, Okamoto Y, Oka N, Hamaguchi T, Okada H, Arakawa S, Hamami G, Matsumoto O, Kamidono S (1988). Male infertility with chromosomal abnormalities. Acta Urol Jpn34: 1063–1068
Hori N, Yamamoto I, Hayashi N, Sugimura Y, Suzuki S, Sakurai M, Araki T, Tsukamoto K, Yamakawa K, Kawamura J (1987): Chromosomal investigation in infertile cases of azoospermia. Acta Urol Jpn33: 187–192
Hori T, Takahashi E, Ishihara T, Minamihisamatsu M, Kaneko Y, Murata M (1988a): Distamycin A-inducible fragile sites and cancer proneness. Cancer Genet Cytogenet34: 177–187
Hori T, Takahashi E, Murata M (1988b): Nature of distamycin A-inducible fragile sites. Cancer Genet Cytogenet34: 189–194
Johnson SG (1970): Testicular biopsy score count—A method for registration of spermatogenesis in human testes: Normal values and results in 335 hypogonadal male. HormonesI, 2–25
Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger S, Sutherland GR, Richards RI (1991): Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science252: 1711–1714
Le Beau MM (1986): Chromosomal fragile sites and cancer-specific rearrangements. Blood67: 849–858
McIlree EM (1966): Chromosome studies on testicular cells from 50 subfertile men. Lancetii: 69–71
Murata M, Takahashi E, Minamihisamatsu M, Ishihara T, Wong, P, Bessho M, Hirashima K, Hori T (1988): Heritable rare fragile sites in patients with leukemia and other hematologic disorders. Cancer Genet Cytogenet31: 95–103
Nakahori Y, Tamura T, Nagafuchi S, Fujita K, Minowada S, Fukutani K, Fuse H, Hayashi K, Kuroki Y, Fukushima Y, Agematsu K, Kunh T, Kaneko S, Yamada K, Kitagawa T, Nonomura M, Fukuda S, Kusano M, Onigata S, Hibi I, Nakagome Y (1991): Molecular cloning and mapping of 10 new probes on the human Y chromosome. Genomics9: 765–769
Ochi H, Watanabe S, Yamamoto H (1988): New heritable fragile site on chromosome 8 induced by distamycin A. Jpn J Cancer Res79: 145–147
Sasagawa I, Terada T, Katayama T (1985): 46, XYq—in a patient with male infertility. Jpn J Fertil Steril30: 114–118
Shabtai F, Klar D, Hart J, Halbrecht I (1985): On the meaning of fragile sites in cancer risk and development. Cancer Genet Cytogenet18: 81–85
Sutherland GR, Hecht F (1985) Fragile sites on human chromosomes. Oxford University Press, New York, Oxford
Sutherland GR, Ledbetter DH (1989): Report of the committee on cytogenetic markers. Cytogenet Cell Genet51: 452–458
Takahashi E, Hori T, Murata M (1988a): Population cytogenetics of rare fragile sites in Japan. Hum Genet78: 121–126
Takahashi E, Hori T, Murata M (1988b): A new rare heritable fragile site at 8q24.1 found in a Japanese population. Clin Genet33: 91–94
Takahashi E, Kaneko Y, Ishihara T, Minamihisamatsu M, Murata M, Hori T (1988c): A new rare distamycin A-inducible fragile site, fra(11)(15.1), found in two acute nonlymphocytic leukemia (ANLL) patients with t(7;11)(p15-p13; p15). Hum Genet80: 124–126
Verkerk AJMH, Pieretti, M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65: 905–914
Weissenbach J, Goodfellow PL, Smith KD (1989): Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet51: 438–449
Yunis JJ (1983): The chromosomal basis of human neoplasia. Science211: 227–236
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Seki, N., Sumiya, H., Shimazaki, J. et al. Chromosome abnormalities and rare fragile sites detected in azoospermia patients. Jap J Human Genet 37, 215–222 (1992). https://doi.org/10.1007/BF01900715
Received:
Accepted:
Issue date:
DOI: https://doi.org/10.1007/BF01900715
