Determinación de deleciones en el cromosoma Y en hombres infértiles candidatos a técnicas de reproducción asistida
Artículo barra lateral
PDF
FLIP
HTML
Sección: Artículo Original
Cómo citar
Lucena Q, E., Pérez, C., & Kent First, M. (2004). Determinación de deleciones en el cromosoma Y en hombres infértiles candidatos a técnicas de reproducción asistida. NOVA, 2(2). https://doi.org/10.22490/24629448.3
Formatos de citación
Contenido principal del artículo
Autores
Elkin Lucena Q
Clara Esteban Pérez
Marijo Kent First
Resumen
El compromiso espermático severo en el hombre infértil, puede ser el resultado de la presencia de deleciones en el cromosoma Y en la región AZFc (Factor de azoospermia región c). En este estudio se caracterizaron 97 hombres con infertilidad con una frecuencia del 6% para la presencia de deleciones en la población estudiada. De estos hombres positivos para deleción en la región Yq (AZFc), nacieron tres niños mediante el uso de inyección intracitoplasmática (ICSI) que heredaron la mutación en el cromosoma Y, fundamentando la importancia de crear un programa de tamizaje para detectar la presencia de deleción en este cromosoma en la población de hombres infértiles candidatos para técnica de fertilización asistida (ART) mediante ICSI. Palabras claves: hombres infértiles, delección, Zona Yq, fertilización asistida, inyección intracitoplasmática de espermatozoides.
Detalles del artículo
Licencia
NOVA por http://www.unicolmayor.edu.co/publicaciones/index.php/nova se distribuye bajo una Licencia Creative Commons Atribución-NoComercial-SinDerivar 4.0 Internacional.
Así mismo, los autores mantienen sus derechos de propiedad intelectual sobre los artículos.
Referencias
1. Peterlin B, Kunej T, Sinkovec J, Gligorievska N, Zorn B. Screening for Y chromosome microdeletions in 226 slovenian subfertile men. Hum Reprod 2002; 17:17-24.
2. Vogt PH. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933-43.
3. Kent-First M, Muallen A, Pryor J, Roberts K, Nolten W. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Ychromosome microdeletion detection. Mol Reprod Dev 1999; 53:27-41.
4. Reijo R. Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 1996;35: 346-52.
5. Foresta C, Ferlin A, Moro E, Scandellari C. Y chromosome. Lancet 2000; 355:234–5.
6. Vollrath D, Foote S, Hilton A. The human Y chromosome: A 43-interval map based on naturally occurring deletion. Science 1992; 258:52-9.
7. Lahn B, Page D. Functional coherence of the Human Y Chromosome. Science 1997; 278: 675-80.
8. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34:119-24.
9. Ma K. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75:1287-95.
10. Reijo R. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10:383-93.
11. Brown RA, Furlong RA, Sargent CA. Characterizations of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet 1998; 7:97-107.
12. Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for
spermatogenesis. Hum Mol Genet 1994; 3:1965-7.
13. Najmabadi H, Huang V, Yeng P, Subbarao MN, Bhasin D, Banaag L, et al. Substantial prevalence of microdeletion on infertile men with idipoatic azoospermia and oligozoospermia detected using a sequence tagget site base maping strategy. J. Clin. Endocrinol. Metab 1996; 81:1347-52.
14. Saxena R. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 1996; 14: 292-9.
15. Cooke HJ. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 1996; 5:513-6.
16. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmatic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999 14:1722-6.
17. Kent-First M, Kol S, Muallen A. Infertility in Intracitoplasmatic sperm injection derived sons. Lancet 1996; 348: 332.
18. Edwards RG, Bishop CE. On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol Hum Reprod 1997; 3:549–54.
19. Krauz C, Quintana L, Barbaux S, Siffroid FP, Arvis G, Antoine JM, et al. A high frequency of Y chromosomic deletion in males with no idiopathic infertility. J Clin Endocrinol Metab 1999; 84: 3606-12.
20. Simoni M. et al. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in
azoospermia and severe oligozoospermia. Fertil Steril 1997; 67:542-7.
21. Van Der Ven K, Montag M, Pesschka B. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmatic sperm injection. Mol Hum Reprod 1997; 3:699-704.
22. Foresta C, Ferlin A, Garolla A. High frequency of well defined Y chromosomal deletions in idiopathic sertoli cell only syndrome. Hum Reprod 1998; 13:302-7.
23. Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Gatta V, Palka G, et al. 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 1996; 59:1393–5.
24. Qureshi SJ. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol Hum Reprod 1996; 2: 775-9.
25. Pryor JL, Kenfirst M, Nolten W, Meissner L, Robert KP. Prospective analysis of Y chromosome microdeletions in 200 consecutive male infertility patients. N Engl J Med 1997;336: 534-9.
26. Vereb M, Agulnik AL, Houston JT. Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol Hum Reprod 1997; 3:55-9.
27. Ferlin A, Moro E, Garolla A, Foresta C. Human male infertility and Y chromosome deletions: role of the AZF-candidate gene DAZ, RBM and Dffry. Hum reprod 1999; 14:1710-6.
28. Fujisawa M, Shirakawa M, Kanzari M, Okada H. Y chromosome microdeletion and phenotype in cytogenetically normal men with idiopathic azoospermia. Fert Steril 2001; 76:491-5.
29. Friel A, Houghton J, Smith T, Nolan S. Molecular detection of Y chromosome microdeletions: an irish study. Int J Androl 1997; 24:31-6.
30. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12:1635-41.
31. Grimaldi P, Scarponi, Rossi P. analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques. Mol hum Reprod 1998; 4:1116-21.
32. Kleiman SE, Yogev L, Gamzu R. Genetic evaluation of infertile men. Hum Reprod 1999; 14:33-8.
33. David P, Sherman S, Brown L. Men with infertility caused by AZFc deletion can produce sons by intrcytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999; 14:1722-6.
34. Bourhis C, Siffroi J, McElreavey K, Pierre J. Y chromosome microdeletions and germinal mosaicism in infertile males. Mol Hum Reprod 2000; 6:688-93.
35. Krauz C, McErlreavey K. Y Chromosomal microdeleltions in infertile males. Hum Reprod 2001; 16:1306-7.
36. Vries J, Hoffer M, Repping S, Hoovers J. reduced copy number of DAZ genes in subfertile and infertile men. Fert Steril 2002; 77:68-74.
37. Dohle G, Halley D, Hemel J, Ouwel V. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002;17:13-6.
38. Bor P, Hindkjaer J, Ingerslev H, Kolvra A. Multiplex PCR for screening of microdeletions on the Y chromosome. J Assist Reprod Genet 2001; 18:291-7.
39. Brandell R, Mielnick A, Liotta D, Ye Z, Veck L, Palermo G. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: Preliminary report of a prognostic test. Hum Rep 1998; 13:2812-5.
40. Henegariu O, Hirschamann P, Kilian K. Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrology 1993; 26:97-106.
41. Kremer JA, Tuerlings J, Meuleman E. Microdeletions of the Y chromosome and cytoplasmatic sperm injection: from gene to clinic. Hum Reprod 1997;12:687-91.
42. Mulhall J, Burgess C, Cunningham D, Carson R. Harris D, Oate R. Presence of mature sperm in testicular parenchyma of men with nonobstructive azoospermia: prevalence and predictive factors. Urology 1997; 49:91-6.
43. Silber S, Alagappan R, Brown L, Page D. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmatic sperm injection after testicular
sperm extraction. Hum Reprod 1998;332-7.
44. Repping S, Skaletsky H, Lange J, Silber S, Wan Der Veen F, et al. Recombiantion between palindromes P%-P1 on human y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 711:906-22.
45. Kuroda-Kawaguchi T, Skalesky H, Brown L, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nature Genet 2001;29:279-86.
46. Skalesky L, Kuroda-Kawaguchi T, Minx P, Cordum H. The male specific region of the human Y chromosome is mosaic of discrete sequence classes. Nature 2003;423:825-37.
47. Cooke HJ. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 1996;5: 513-6.
48. Kamischke A, Gromoll J, Simoni M, Behre HM. Transmission of a Y Chromosomal deletions involving the deleted in
azoospermia (DAZ) and chromodomine (CDY1) Genes from father to soon through intracytoplasmatic sperm injection: Case report Hum Reprod 1999;14: 2330-2.
49. Lee JH, Lee DR, Yoon SJ, Chai YG, Roh SI, Yoon HS. Expression of DAZ (deleted in azoospermia), DAZL1 (DAZ-like) and protamine-2 in testis and its application for diagnosis of spermatogenesis in non-obstructive azoospermia. Mol Hum Reprod 1998; 4: 827–34.
50. Shan ZA. SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum Mol Genet 1996; 5: 2005-11.
51. Palermo G, Joris J, Devroey P. Pregnancies after intracytoplasmic injection for azospermic men. Hum Reprod
1992;14:741-8.
52. Van Steirteghem A, Nagy Z, Liu J, Staessen C. et al. High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 1993;8:1061-6.
53. Carslen E, Giwercman A, Keiding N, Shakkebaek N. Evidence for decreasing quality of semen during past 50 years. BMJ 1992;
305:609-13.
54. Auger J, Kunstmann J, Czyglik J. Decline in semen quality among fertile men in Paris during the past 20 years. N Engl J Med 1995;332:281-5.
55. De Mouzon J, Spira A, Thonneau P, Multigner L. Declining sperm count. BMJ 1996; 313:343.
56. Moller H, Skakkebaek N. Risk of testicular cancer in subfertile men: case control study. BMJ 1999;318:559-62.
57. Bonde J, Erns E, Jense T. Relation between semen quality and fertility: a population based study of 430 first pregnancy planners. Lancet 1998; 352: 1172-7.
-------------------------------------------------------------------------------
DOI: http://dx.doi.org/10.22490/24629448.3
2. Vogt PH. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933-43.
3. Kent-First M, Muallen A, Pryor J, Roberts K, Nolten W. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Ychromosome microdeletion detection. Mol Reprod Dev 1999; 53:27-41.
4. Reijo R. Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 1996;35: 346-52.
5. Foresta C, Ferlin A, Moro E, Scandellari C. Y chromosome. Lancet 2000; 355:234–5.
6. Vollrath D, Foote S, Hilton A. The human Y chromosome: A 43-interval map based on naturally occurring deletion. Science 1992; 258:52-9.
7. Lahn B, Page D. Functional coherence of the Human Y Chromosome. Science 1997; 278: 675-80.
8. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34:119-24.
9. Ma K. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75:1287-95.
10. Reijo R. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10:383-93.
11. Brown RA, Furlong RA, Sargent CA. Characterizations of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet 1998; 7:97-107.
12. Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for
spermatogenesis. Hum Mol Genet 1994; 3:1965-7.
13. Najmabadi H, Huang V, Yeng P, Subbarao MN, Bhasin D, Banaag L, et al. Substantial prevalence of microdeletion on infertile men with idipoatic azoospermia and oligozoospermia detected using a sequence tagget site base maping strategy. J. Clin. Endocrinol. Metab 1996; 81:1347-52.
14. Saxena R. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 1996; 14: 292-9.
15. Cooke HJ. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 1996; 5:513-6.
16. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmatic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999 14:1722-6.
17. Kent-First M, Kol S, Muallen A. Infertility in Intracitoplasmatic sperm injection derived sons. Lancet 1996; 348: 332.
18. Edwards RG, Bishop CE. On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol Hum Reprod 1997; 3:549–54.
19. Krauz C, Quintana L, Barbaux S, Siffroid FP, Arvis G, Antoine JM, et al. A high frequency of Y chromosomic deletion in males with no idiopathic infertility. J Clin Endocrinol Metab 1999; 84: 3606-12.
20. Simoni M. et al. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in
azoospermia and severe oligozoospermia. Fertil Steril 1997; 67:542-7.
21. Van Der Ven K, Montag M, Pesschka B. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmatic sperm injection. Mol Hum Reprod 1997; 3:699-704.
22. Foresta C, Ferlin A, Garolla A. High frequency of well defined Y chromosomal deletions in idiopathic sertoli cell only syndrome. Hum Reprod 1998; 13:302-7.
23. Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Gatta V, Palka G, et al. 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 1996; 59:1393–5.
24. Qureshi SJ. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol Hum Reprod 1996; 2: 775-9.
25. Pryor JL, Kenfirst M, Nolten W, Meissner L, Robert KP. Prospective analysis of Y chromosome microdeletions in 200 consecutive male infertility patients. N Engl J Med 1997;336: 534-9.
26. Vereb M, Agulnik AL, Houston JT. Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol Hum Reprod 1997; 3:55-9.
27. Ferlin A, Moro E, Garolla A, Foresta C. Human male infertility and Y chromosome deletions: role of the AZF-candidate gene DAZ, RBM and Dffry. Hum reprod 1999; 14:1710-6.
28. Fujisawa M, Shirakawa M, Kanzari M, Okada H. Y chromosome microdeletion and phenotype in cytogenetically normal men with idiopathic azoospermia. Fert Steril 2001; 76:491-5.
29. Friel A, Houghton J, Smith T, Nolan S. Molecular detection of Y chromosome microdeletions: an irish study. Int J Androl 1997; 24:31-6.
30. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12:1635-41.
31. Grimaldi P, Scarponi, Rossi P. analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques. Mol hum Reprod 1998; 4:1116-21.
32. Kleiman SE, Yogev L, Gamzu R. Genetic evaluation of infertile men. Hum Reprod 1999; 14:33-8.
33. David P, Sherman S, Brown L. Men with infertility caused by AZFc deletion can produce sons by intrcytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999; 14:1722-6.
34. Bourhis C, Siffroi J, McElreavey K, Pierre J. Y chromosome microdeletions and germinal mosaicism in infertile males. Mol Hum Reprod 2000; 6:688-93.
35. Krauz C, McErlreavey K. Y Chromosomal microdeleltions in infertile males. Hum Reprod 2001; 16:1306-7.
36. Vries J, Hoffer M, Repping S, Hoovers J. reduced copy number of DAZ genes in subfertile and infertile men. Fert Steril 2002; 77:68-74.
37. Dohle G, Halley D, Hemel J, Ouwel V. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002;17:13-6.
38. Bor P, Hindkjaer J, Ingerslev H, Kolvra A. Multiplex PCR for screening of microdeletions on the Y chromosome. J Assist Reprod Genet 2001; 18:291-7.
39. Brandell R, Mielnick A, Liotta D, Ye Z, Veck L, Palermo G. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: Preliminary report of a prognostic test. Hum Rep 1998; 13:2812-5.
40. Henegariu O, Hirschamann P, Kilian K. Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrology 1993; 26:97-106.
41. Kremer JA, Tuerlings J, Meuleman E. Microdeletions of the Y chromosome and cytoplasmatic sperm injection: from gene to clinic. Hum Reprod 1997;12:687-91.
42. Mulhall J, Burgess C, Cunningham D, Carson R. Harris D, Oate R. Presence of mature sperm in testicular parenchyma of men with nonobstructive azoospermia: prevalence and predictive factors. Urology 1997; 49:91-6.
43. Silber S, Alagappan R, Brown L, Page D. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmatic sperm injection after testicular
sperm extraction. Hum Reprod 1998;332-7.
44. Repping S, Skaletsky H, Lange J, Silber S, Wan Der Veen F, et al. Recombiantion between palindromes P%-P1 on human y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 711:906-22.
45. Kuroda-Kawaguchi T, Skalesky H, Brown L, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nature Genet 2001;29:279-86.
46. Skalesky L, Kuroda-Kawaguchi T, Minx P, Cordum H. The male specific region of the human Y chromosome is mosaic of discrete sequence classes. Nature 2003;423:825-37.
47. Cooke HJ. A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 1996;5: 513-6.
48. Kamischke A, Gromoll J, Simoni M, Behre HM. Transmission of a Y Chromosomal deletions involving the deleted in
azoospermia (DAZ) and chromodomine (CDY1) Genes from father to soon through intracytoplasmatic sperm injection: Case report Hum Reprod 1999;14: 2330-2.
49. Lee JH, Lee DR, Yoon SJ, Chai YG, Roh SI, Yoon HS. Expression of DAZ (deleted in azoospermia), DAZL1 (DAZ-like) and protamine-2 in testis and its application for diagnosis of spermatogenesis in non-obstructive azoospermia. Mol Hum Reprod 1998; 4: 827–34.
50. Shan ZA. SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum Mol Genet 1996; 5: 2005-11.
51. Palermo G, Joris J, Devroey P. Pregnancies after intracytoplasmic injection for azospermic men. Hum Reprod
1992;14:741-8.
52. Van Steirteghem A, Nagy Z, Liu J, Staessen C. et al. High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 1993;8:1061-6.
53. Carslen E, Giwercman A, Keiding N, Shakkebaek N. Evidence for decreasing quality of semen during past 50 years. BMJ 1992;
305:609-13.
54. Auger J, Kunstmann J, Czyglik J. Decline in semen quality among fertile men in Paris during the past 20 years. N Engl J Med 1995;332:281-5.
55. De Mouzon J, Spira A, Thonneau P, Multigner L. Declining sperm count. BMJ 1996; 313:343.
56. Moller H, Skakkebaek N. Risk of testicular cancer in subfertile men: case control study. BMJ 1999;318:559-62.
57. Bonde J, Erns E, Jense T. Relation between semen quality and fertility: a population based study of 430 first pregnancy planners. Lancet 1998; 352: 1172-7.
-------------------------------------------------------------------------------
DOI: http://dx.doi.org/10.22490/24629448.3
Descargas
La descarga de datos todavía no está disponible.
Horario: Lunes a Viernes: 8:00 a.m. a 5:00 p.m
