Genetic screening in infertile Mexican men: Chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length

Journal of Andrology

Volumn 29, Issue 6, 2008, Pages 654-660

  Martínez Garza, Sandra Guadalupe ^a   Gallegos Rivas, Mayra Celina ^a   Vargas Maciel, Marcos ^a   Rubio Rubio, Juan Manuel ^a   Espinosa De Los Monteros Rodríguez, Mario ^a   González Ortega, Claudia ^a   Cancino Villarreal, Patricia ^a   Vazquez De Lara, Luis G ^b   Gutiérrez Gutiérrez, Antonio Martín ^a  

^a Inst de Cie en Reprod Humana   (Mexico)

^b BENEMÉRITA UNIVERSIDAD AUTÓNOMA DE PUEBLA   (Mexico)

Author keywords

Karyotype; Microdeletion; Oligospermia; Trinucleotide repeat

Indexed keywords

ANDROGEN RECEPTOR; REPETITIVE DNA;

ADULT; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DELETION Y; CONTROLLED STUDY; CYTOGENETICS; DISEASE ASSOCIATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MEXICO; PRIORITY JOURNAL; REPRODUCTION; SPERMATOGENESIS;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; GENETIC SCREENING; HUMANS; INFERTILITY, MALE; MALE; MEXICO; RECEPTORS, ANDROGEN; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 56249112631     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.107.004309     Document Type: Article

References (46)

1. Arruda JT, Bordin BM, Santos PR, Mesquita WE, Silva RC, Maia MC, Approbato MS, Florêncio RS, Amaral WN, Rocha Filho MA, Moura KK. Y chromosome microdeletions in Brazilian fertility clinic patients. Genet Mol Res. 2007;6:461-469.
2. Asatiani K, von Eckardstein S, Simoni M, Gromoll J, Nieschlag E. CAG repeat length in the androgen receptor gene affects the risk of male infertility. Int J Androl. 2003;26:255-261.
3. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998;13:2812-2815.
4. Carrell DT, De Jonge C, Lamb DJ. The genetics of male infertility: a field of study whose time is now. Arch Androl. 2006;52:269-274.
5. Cerda-Flores RM, Villalobos-Torres MC, Barrera-Saldaña HA, Cortés-Prieto LM, Rivas F, Carracedo A, Zhong Y, Barton SA, Chakraborty R. Genetic admixture in three Mexican Mestizo populations based on D1S80 and HLA-DQA1 loci. Am J Hum Biol. 2002;14:257-263.
6. Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 1994;22: 3181-3186.
7. Chernykh VB, Chukhrova AL, Beskorovaǐnaia TS, Grishina EM, Sorokina TM, Shileǐko LV, Gogolevskiǐ PA, Kalugina AS, Morina GV, Togobetskiǐ AS, Tanevskiǐ VE, Zdanovskiǐ VM, Gogolevskaia IK, Kramerov DA, Poliakov AV, Kurilo LF. Types of Y chromosome deletions and their frequency in infertile men. Genetika. 2006;42:1130-1136.
8. Collodel G, Moretti E, Capitani S, Piomboni P, Anichini C, Estenoz M, Baccetti B. TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9. Andrologia. 2006;38: 122-127.
9. Dadze S, Wieland C, Jakubiczka S, Funke K, Schroder E, Royer-Pokora B, Willers R, Wieacker PF. The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin. Mol Hum Reprod. 2000;6:207-214.
10. Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK. Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrinol Metab. 2007;92:4319-4326.
11. El Awady MK, El Shater SF, Ragaa E, Atef K, Shaheen IM, Megiud NA. Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility. Asian J Androl. 2004;6: 53-57.
12. Elghezal H, Hidar S, Braham R, Denguezli W, Ajina M, Saad A. Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders. Fertil Steril. 2006;86:1792-1795.
13. Fernández-Salgado E, Alvarez-Nava F, Borjas-Fajardo L, Osuna J, Gómez R, Zabala W, Zambrano M, Portillo-M MG. Molecular analysis of microdeletions of the Y chromosome in Venezuelan males with idiopathic infertility. Invest Clin. 2006;47:395-403.
14. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001;22:226-239.
15. Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York: Oxford University Press; 2004.
16. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod. 1997;12:1635-1641.
17. Gottlieb B, Lombroso R, Beitel LK, Trifiro MA. Molecular pathology of the androgen receptor in male (in)fertility. Reprod Biomed Online. 2005;10:42-48.
18. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003;18:1660-1665.
19. Isidoro-García M, González-Sarmiento R, Cordero M, García-Macías C, Corrales-Hernández JJ, Miralles-García JM. Study of AZF regions of Y chromosome in males with idiopathic infertility. Analysis of two methods of molecular diagnosis [in Spanish]. Med Clin (Barc). 2005;125:731-733.
20. Katagiri Y, Neri QV, Takeuchi T, Moy F, Sills ES, Palermo GD. Androgen receptor CAG polymorphism (Xq11-12) status and human spermatogenesis: a prospective analysis of infertile males and their offspring conceived by intracytoplasmic sperm injection. Int J Mol Med. 2006;18:405-413.
21. Kim SW, Kim KD, Paick JS. Microdeletions within the azoospermia factor subregions of the Y chromosome in patients with idiopathic azoospermia. Fertil Steril. 1999;72:349-353.
22. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, Paz G, Yavetz H. Genetic evaluation of infertile men. Hum Reprod. 1999;14:33-38.
23. Komori S, Kasumi H, Kanazawa R, Sakata K, Nakata Y, Kato H, Koyama K. CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia. Mol Hum Reprod. 1999;5:14-16.
24. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003;26:70-75.
25. Levron J, viram-Goldring A, Madgar I, Raviv G, Barkai G, Dor J. Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection. Fertil Steril. 2001;76:479-484.
26. Mengual L, Oriola J, Ascaso C, Ballesca JL, Oliva R. An increased CAG repeat length in the androgen receptor gene in azoospermic ICSI candidates. J Androl. 2003;24:279-284.
27. Mifsud A, Sim CK, Boettger-Tong H, Moreira S, Lamb DJ, Lipshultz LI, Yong EL. Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil Steril. 2001;75:275-281.
28. Milatiner D, Halle D, Huerta M, Margalioth EJ, Cohen Y, Ben-Chetrit A, Gal M, Mimoni T, Eldar-Geva T. Associations between androgen receptor CAG repeat length and sperm morphology. Hum Reprod. 2004;19:1426-1430.
29. Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK. Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia. 2007;39:87-92.
30. Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996;81:1347-1352.
31. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod. 2002;17:2813-2824.
32. 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.
33. Reijo R, Alagappan RK, Patrizio P, Page DC. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet. 1996;347:1290-1293.
34. Ristanovic M, Bunjevacki V, Tulic C, Novakovic I, Nikolic A. Molecular analysis of Y chromosome microdeletions in idiopathic cases of male infertility in Serbia. Genetika. 2007;43:850-854.
35. Ruhayel Y, Lundin K, Giwercman Y, Halldén C, Willén M, Giwercman A. Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod. 2004;19:2076-2083.
36. Silber SJ, Alagappan R, Brown LG, Page DC. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod. 1998;13:3332-3337.
37. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl. 2004;27:240-249.
38. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J, Nieschlag E. Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril. 1997;67:542-547.
39. Singh R, Deepa SR, Madhavi S, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. Male infertility: no evidence of involvement of androgen receptor gene among Indian men. J Androl. 2006;27:102-105.
40. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825-837.
41. Thangaraj K, Joshi MB, Reddy AG, Gupta NJ, Chakravarty B, Singh L. CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J Androl. 2002;23:815-818.
42. Van Landuyt L, Lissens W, Stouffs K, Tournaye H, Liebaers I, Van Steirteghem A. Validation of a simple Yq deletion screening programme in an ICSI candidate population. Mol Hum Reprod. 2000;6:291-297.
43. Vicdan A, Vicdan K, Günalp S, Kence A, Akarsu C, Işik AZ, Sözen E. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol. 2004;117:49-54.
44. Wallerand H, Remy-Martin A, Chabannes E, Bermont L, Adessi GL, Bittard H. Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. Fertil Steril. 2001;76:769-774.
45. Wong WY, Thomas CM, Merkus JM, Zielhuis GA, Steegers-Theunissen RP. Male factor subfertility: possible causes and the impact of nutritional factors. Fertil Steril. 2000;73:435-442.
46. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interactions. 4th ed. Cambridge, United Kingdom: Cambridge University Press; 1999.