Analysis of the Specific Y-Sequences in Female Patients with Turner
Vodička R., Vrtěl R., Adamová K., 1Zapletalová J. , 2Lebl J., Šantavý J., Šantavá A., Kolářová J., Konvalinka D., Krejčiříková E.
Ústav lékařské genetiky a fetální medicíny LF UP a FN, Olomouc 1Dětská klinika LF UP a FN, Olomouc 2Klinika dětí a dorostu 3. LF UK a FNKV, Praha
Background. DNAsequences from chromosomeYcan cause gonadoblastoma development in patientswith Turner
syndrome (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 to
gonadectomy of proved positive patients.
Methods and Results. Samples from 110 patients were collected. The PCR method and analysis of products on
agarose gel was compared with analysis of DNA fragments from quantitative fluorescent (QF) PCR on capillary
electrophoresis. The loci DYZ3, AMGX/Y and SRY were used for detection. The method QF PCR was effected for
DYZ3 and AMGX/Y loci. The positive cases were examined by FISH method. Five (4,5 %) and 3 (2,7 %) positive
cases 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 mosaicism
ranged from 1:5 to 1:100 000.
Conclusions. QG PCR is the most sensitive method for diagnostics of Y-sequences. Simultaneously the incidency
of Y-positive cells can be estimated. The positive cases with marker in karyotype were confirmed by FISH.
Turner syndrome, Y chromosome, gonadoblastoma, capillary electrophoresis.