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Product summary

  • Technology FISH
  • Application Cytogenetics & rare disease
  • Areas of interest Constitutional
  • Region Yp11.31 / Yq12
  • Label      
  • Product No. LPU 026 (10 tests)
    LPU 026-S (5 tests)
  • Intended use In vitro diagnostic. This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.

Chromomaps

Overview

Probe specification

  • 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.

 

Probe information

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.

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References

  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

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