Abstract
Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients.
Highlights
Molecular analysis technique using small number of cells, paraffin embedded tissues, archived cytogenetic slides, the blood stain, and denatured aged-tissue samples has been developed recently
Our findings demonstrated the usefulness of archived cytogenetic slides prepared from suspected Turner syndrome (TS) patients, by coamplification PCR in detecting the presence of Y specific sequences to defined regions of the Y chromosome
By coamplifing the centromere (DYZ3) gene for Y chromosome and dystrophin gene for the X chromosome, all 26 archived slides from 1 to 6 years old were successfully determined to have 148 base pair Xspecific fragments and 25 of them could be detected to the absence of Y chromosome materials simultaneously
Summary
Molecular analysis technique using small number of cells, paraffin embedded tissues, archived cytogenetic slides, the blood stain, and denatured aged-tissue samples has been developed recently. Archived cytogenetic slides can be used for a retrospective study when the patient had already passed away or further sampling was not available for the DNA analysis. Cytogenetic analysis detects the Y chromosome mosaicism in 6-9 % of TS patients (Ostrer and Clayton, 1989). The detection of Y chromosome sequences in TS patients is important because the risk of developing gonadoblastoma or dysgerminoma is as high as 30% (Salo et al, 1995). Our findings demonstrated the usefulness of archived cytogenetic slides prepared from suspected TS patients, by coamplification PCR in detecting the presence of Y specific sequences to defined regions of the Y chromosome
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