Abstract
Purpose : To report two azoospermic patients with reciprocal X–autosome translocations.
Methods : Cytogenetic analysis utilizing GTG-banding and Yq microdeletions shown by polymerase chain reaction (PCR) with 12 sequence-tagged site (STS) markers for Y chromosome microdeletions.
Results : Cytogenetic analysis showed one man with 46,Y,t(X;19)(q22;q13.3) and the other with 46,Y,t(X;8)(p22;q11). Neither had any Yq microdeletions shown. The patient with 46,Y, t(X;8)(p22;q11) showed a slightly lower than normal testosterone level. By NCBI-Blast search, we found four testis-specific genes, t-complex-associated-testis-expressed 1-like (TCTE1L), Ferritin, heavy polypeptide-like 17 (FTHL17), Testis expressed sequence 13A (TEX13A), and Testis expressed sequence 13B (TEX13B) located near breakpoints on X chromosome. FTHL17, TEX13A, and TEX13B are spermatogonially-expressed, germ-cell-specific genes.
Conclusion : This is the first clinical report of azoospermia with reciprocal X–autosome translocations on Xp22 and q22. These translocations on Xp22 and q22 may be direct genetic risk factors for azoospermia.
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References
Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M: Cytogenetics and infertility in man. I. Karyotype and seminal analysis: Results of a five-year survey of men attending a subfertility clinic. Ann. Hum Genet 1975;39:231-254
Chandley AC: The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann Genet 1981;24:5-11
Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J: Human male infertility: Chromosome anomalies, meiotic disorder, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 2000;6: 93-105
Yoshida A, Miura K, Shirai M: A cytogenetic survey of 1,007 infertile males. Urol Int. 1997;58: 166-176
Searle AG: The genetics of sterility in the mouse. In Genetic Control of Gamete Production and Foundation. PG Crosignani, BL Rubin (eds), New York, Academic 1982
Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC: Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 1988;48:43-47
Madan K: Balanced structural changes involving the human X: Effect on sexual phenotype. Hum Genet 1983;63:216-221
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-393
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-943
Stuhrmann M, Dork T: CFTR gene mutations and male infertility. Andrologia 2000;32:71-83
Zhang H, Xia J, Li L, Dai H, Lu H: The high resolution G band of human chromosomes at 1200 band stage. I Chuan Hsueh Pao 1990;17:418-421
Buckton K, Jacobs PA, Rae LA, Newton MS: An inherited X-autosome translocation in man. Ann Hum Genet 1971;35:171-178
Stengel-Rutkowski S, Zanki H, Rodewald A, Scharrer S, Chaudhuri JP, Zang KD: Aspermia, associated with a presumably balanced X/autosomal translocation karyotype. Hum Genet 1976;31:97-106
Marmor D, Taillemite JL, Akker J van den Portnoi MF, Le Porrier N, Joye N, Delafontaine D, Roux C: Semen analysis in subfertile balanced translocation carriers. Fertil Steril 1980;34:496-502
Cuoco C, Gimelli G, Maraschio P, Pasquli P: X/autosomal translocations and male sterility. Clin Genet 1980;17:61-62
Faed MJW, Lament MA, Baxby K: Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J Med Genet 1982;19:49-56
Basrur PK, Koykul W, Baguma-Nibasheka M, King WA, Ambady S, Ponce de Leon FA: Synaptic pattern of sex complements and sperm head malformation in X-autosome translocation carrier bulls. Mol Reprod Dev 2001;59:67-77
Wang PJ, McCarrey JR, Yang F, Page DC: An abundance of X-linked genes expressed in spermatogonia. Nat Genet 2001;27:422-426
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Lee, S., Lee, SH., Chung, TG. et al. Molecular and Cytogenetic Characterization of Two Azoospermic Patients with X-Autosome Translocation. J Assist Reprod Genet 20, 385–389 (2003). https://doi.org/10.1023/A:1025437329427
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DOI: https://doi.org/10.1023/A:1025437329427