Application Guide - QIAxcel Advanced

54 QIAxcel Advanced Application Guide 10/2016 Conclusions • The QIAxcel capillary electrophoresis system is highly suited for reproducibly detecting Y chromosome microdeletions and rearrangements in a fast and reliable manner. • Using the QIAxcel system with the QIAxcel DNA High Resolution Kit, Y chromosome microdeletions were detected by direct analysis of PCR products: prior manipulation of the samples was not necessary. • Results of this research, described in (4), facilitated the construction of a minimal set of markers to be used for detecting AZF microdeletions. The use of these markers will assist the research on the effect of AZF mutations on male fertility. References 1. Tiepolo, L., and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 34, 119. 2. Navarro-Costa, P., Gonçalves, J., and Plancha, C.E. (2010) The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum. Reprod. Update 16, 525; first published online March 18, 2010 doi:10.1093/humupd/dmq005. 3. Simoni, M., Tuttelmann, F., Gromoll, J., and Nieschlag, E. (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod. Biomed. Online 16, 289. 4. Peterlin, B., Kunej, T., Sinkovec, J., Gligorievska, N., and Zorn, B. (2002) Screening for Y chromosome microdeletions in 226 Slovenian subfertile men. Hum. Reprod. 17, 17. 5. Peterlin, B., Kunej, T., and Hristovski, D. (2004) Diagnostic test for Y chromosome microdeletion screening in male infertility. Genet. Testing 8, 45.

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