Microarray detection of Y chromosome deletions associated with male infertility

Reproductive BioMedicine Online

Volumn 15, Issue 6, 2007, Pages 673-680

  Osborne, Elissa C ^a,c   Lynch, M ^b   McLachlan, R ^b   Trounson, A O ^a   Cram, D S ^a,c  

^a MONASH UNIVERSITY   (Australia)

^b HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c MONASH IVF   (Australia)

Author keywords

Array CGH; Deletion; Male infertility; Microarray; Y chromosome

Indexed keywords

GENE PRODUCT; PROTEIN AZF; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME DELETION Y; CHROMOSOME YQ; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; GENE DELETION; GENE PROBE; GENETIC ASSOCIATION; HUMAN; MALE; MALE INFERTILITY; MICROARRAY ANALYSIS; MULTIPLEX POLYMERASE CHAIN REACTION; SPERMATOGENESIS; X CHROMOSOME;

EID: 37349013909     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60534-2     Document Type: Article

References (28)

1. Cooke HJ, Hargreave T, Elliott DJ 1998 Understanding the genes involved in spermatogenesis: a progress report. Fertility and Sterility 69, 989-995.
2. Cram D, Lynch M, O Bryan MK, et al. 2004 Genetic screening of infertile men. Reproduction, Fertility and Development 16, 573-580.
3. Cram DS, Ma K, Bhasin S et al. 2000 Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fertility and Sterility 74, 909-915.
4. Dada R, Gupta NP, Kucheria K 2004 Yq microdeletions - azoospermia factor candidate genes and spermatogenic arrest. Journal of Biomolecular Techniques 15, 176-183.
5. Dada R, Gupta NP, Kucheria K 2003 Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. Journal of Biosciences 28, 163-168.
6. De Kretser DM, Baker HW 1999 Infertility in men: recent advances and continuing controversies. Journal of Clinical Endocrinology and Metabolism 84, 3443-3450.
7. Delbridge ML, Harry JL, Toder R et al. 1997 A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nature Genetics 15, 131-136.
8. Foresta C, Moro E, Ferlin A 2001 Y chromosome microdeletions and alterations of spermatogenesis. Endocrinology Reviews 22, 226-239.
9. Hucklenbroich K, Gromoll J, Heinrich M et al. 2004 Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Human Reproduction 20, 191-197.
10. Krausz C, Quintana-Murci L, Barbaux S et al. 1999 A high frequency of Y chromosome deletions in males with nonidiopathic infertility. Journal of Clinical Endocrinology and Metabolism 84, 3606-3612.
11. Kuukasjarvi T, Tanner M, Pennanen S, et al. 1997 Optimizing DOP-PCR for universal amplification of small DNA samples in comparative genomic hybridization. Genes Chromosomes and Cancer 18, 94-101.
12. Lee S, Joo HS, Lee SH, et al. 2004 Application of DNA chip techniques for Yq microdeletion analysis in infertile males. Experimental Molecular Medicine 36, 179-184.
13. Lynch M, Cram DS, Reilly A, et al. 2005 The Y chromosome gr/gr sub deletion is associated with male infertility. Molecular Human Reproduction 11, 507-512.
14. Ma K, Mallidis C, Bhasin S 2000 The role of Y chromosome deletions in male infertility. European Journal of Endocrinology 142, 418-430.
15. Madon P, Athalye AS, Parikh FR 2005 Polymorphic variants on chromosomes probably play a significant role in infertility. Reproductive BioMedicine Online 11, 726-732.
16. McLachlan RI, Mallidis C, Ma K, et al. 1998 Genetic disorders and spermatogenesis. Reproduction, Fertility and Development 10, 97-104.
17. Meschede D, Horst J 1997 The molecular genetics of male infertility. Molecular Human Reproduction 3, 419-430.
18. Mosher WD 1985 Reproductive impairments in the United States, 1965-1982. Demography 22, 415-430.
19. Nuti F, Krausz C 2007 Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reproductive BioMedicine Online In press.
20. Raicu F, Popa L, Apostol P et al. 2003 Screening for microdeletions in human Y chromosome-AZF candidate genes and male infertility. Journal of Cellular and Molecular Medicine 7, 43-48.
21. Repping S, van Daalen SK, Brown LG et al. 2006 High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nature Genetics 38, 463-467.
22. Repping S, Skaletsky H, Brown L et al. 2003 Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nature Genetics 35, 247-251.
23. Schaeffer AJ, Chung J, Heretis K et al. 2004 Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. American Journal of Human Genetics 74, 1168-1174.
24. Simoni M, Bakker E, Krausz C 2004 EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. International Journal of Andrology 27, 240-249.
25. Sun C, Skaletsky H, Rozen S, et al. 2000 Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Human Molecular Genetics 9, 2291-2296.
26. Vodicka R, Vrtel R, Dusek L et al. 2007 TSPY gene copy number as a potential new risk factor for male infertility. Reproductive BioMedicine Online 14, 579-587.
27. Wilton L, Williamson R, McBain J et al. 2001 Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. New England Journal of Medicine 345, 1537-1541.
28. Yen PH, Chai NN, Salido EC 1996 The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Human Molecular Genetics 5, 2013-2017.