ANALÝZA Y SPECIFICKÝCH SEKVENCÍ U PACIENTEKS TURNEROVÝM SYNDROMEM – ÚVODNÍ STUDIE

Analysis of the Specific Y-Sequences in Female Patients with TurnerSyndrome

Background.
DNAsequences from chromosomeYcan cause gonadoblastoma development in patientswith Turnersyndrome (TS). Estimated risk is about 30%. The aim of the study is detection of Y-sequences on DNA level,calculation of mosaicism and its cytogenetic location. Clinical result of the study is the recommendation togonadectomy of proved positive patients.Methods and Results. Samples from 110 patients were collected. The PCR method and analysis of products onagarose gel was compared with analysis of DNA fragments from quantitative fluorescent (QF) PCR on capillaryelectrophoresis. The loci DYZ3, AMGX/Y and SRY were used for detection. The method QF PCR was effected forDYZ3 and AMGX/Y loci. The positive cases were examined by FISH method. Five (4,5 %) and 3 (2,7 %) positivecases were detected in DYZ3 and SRY resp. loci by electrophoresis on agarose gel. Seventeen (15,5 %) and 7 (6,4 %)positive cases were detected in DYZ3 and AMGX/Y resp. by capillary electrophoresis. The estimated mosaicismranged from 1:5 to 1:100 000.Conclusions. QG PCR is the most sensitive method for diagnostics of Y-sequences. Simultaneously the incidencyof Y-positive cells can be estimated. The positive cases with marker in karyotype were confirmed by FISH.

Key words:
Turner syndrome, Y chromosome, gonadoblastoma, capillary electrophoresis.