- SRY, Yp11.31, Red
- DYZ1, Yq12, Green
- DXZ1, Xp11.1-q11.1, Blue
The SRY probe, labelled in red, consists of two non-overlapping probes, 30kb and 50kb. The probes cover the entire SRY gene and flanking DNA, including the RPS4Y1 gene. The probe mix also contains control probes for the X centromere (DXZ1), labelled in blue, and for chromosome Y (DYZ1, the heterochromatic block at Yq12), labelled in green.
SRY (sex-determining region Y), located in band Yp11.31, is the genetic master switch of mammalian sex determination1.
It encodes a transcription factor that is a member of the high mobility group (HMG) -box family of DNA binding proteins2. In mammals, it triggers the development of undifferentiated gonads into testes3. Human zygotes with mutations in SRY develop into XY females, while XX zygotes in the presence of SRY develop a male phenotype with occasional ambiguous genitalia4,5. Translocations of X and Y are rarely reported but often lead to sex reversal6.
I am grateful for the excellent products I receive from Cytocell at a reasonable price, but more importantly the superb customer support. The speed in which I receive answers or suggestions makes my life as a director much easier and allows me to focus on patient care. The quality and consistency of Cytocell’s probes means I can trust the results, and my clients get their results in a timely manner. Dr. Theresa C. Brown, Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine
1. Kashimada et al., Development 2010 ;137:3921-3930
2. Sinclair AH et al., Nature 1990;346:240-4
3. Koopman P et al., Nature 1991;351:117-21
4. Iida T et al., Hum Mol Genet 1994;3:1437-8
5. Kusz K et al., J Med Gene 1999;36:452-6
6. Ellaithi M et al., BMC Ped 2006;6:11
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.