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Sperm Aneuploidy Testing Using Fluorescence In Situ Hybridization

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Spermatogenesis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 927))

Abstract

Sperm aneuploidy screening has been used as a tool in diagnosis and determining treatment options for male factor infertility since the development of human sperm karyotyping by injection into hamster and mouse oocytes in the 1970s. From these studies and subsequent work with interphase chromosome analysis, at risk populations of men with teratozoospermia, oligozoospermia, and men with translocations, have since been identified. The current technique is an application of fluorescent in situ hybridization (FISH) on interphase sperm nuclei with careful enumeration of the labeled chromosomes to determine sperm ploidy. Typically, five to seven chromosomes are evaluated in individual ejaculates to determine the percent of aneuploid sperm present. This protocol will detail the procedures for: preparation of specimens, exposure of the sperm nuclei to the FISH probes, hybridization, destaining, and scoring criteria.

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References

  1. Shi Q, Martin RH (2001) Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121:655–666

    Article  PubMed  CAS  Google Scholar 

  2. Tempest HG et al (2004) The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs. Reprod Biol Endocrinol 2:82

    Article  PubMed  Google Scholar 

  3. Oliver-Bonet M et al (2006) Studying meiosis: a review of FISH and M-FISH techniques used in the analysis of meiotic processes in humans. Cytogenet Genome Res 114:312–318

    Article  PubMed  CAS  Google Scholar 

  4. Carrell DT (2008) The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises. J Androl 29:124–133

    Article  PubMed  Google Scholar 

  5. Sun F et al (2006) Is there a relationship between sperm chromosome abnormalities and sperm morphology? Reprod Biol Endocrinol 4:1

    Article  PubMed  Google Scholar 

  6. Tempest HG et al (2008) Sperm aneuploidy frequencies analysed before and after chemotherapy in testicular cancer and Hodgkin’s lymphoma patients. Hum Reprod 23:251–258

    Article  PubMed  CAS  Google Scholar 

  7. Tempest HG, Martin RH (2009) Cytogenetic risks in chromosomally normal infertile men. Curr Opin Obstet Gynecol 21:223–227

    Article  PubMed  Google Scholar 

  8. Almeida Santos T et al (2002) Analysis of human spermatozoa by fluorescence in situ hybridization with preservation of the head morphology is possible by avoiding a decondensation treatment. J Assist Reprod Genet 19:291–294

    Article  PubMed  CAS  Google Scholar 

  9. Carrell DT, Emery BR (2008) Use of automated imaging and analysis technology for the detection of aneuploidy in human sperm. Fertil Steril 90:434–437

    Article  PubMed  Google Scholar 

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Correspondence to Benjamin R. Emery .

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Emery, B.R. (2013). Sperm Aneuploidy Testing Using Fluorescence In Situ Hybridization. In: Carrell, D., Aston, K. (eds) Spermatogenesis. Methods in Molecular Biology, vol 927. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-038-0_15

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  • DOI: https://doi.org/10.1007/978-1-62703-038-0_15

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-037-3

  • Online ISBN: 978-1-62703-038-0

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