CHROMOSOMAL MOSAICISM IN THE PATIENTS WITH TURNER'S SYNDROME
Vyatkina S1., Nagornaya I1,3., Loginova J1,3., Lyazina L2., Vasileva I2., Prozorova M2., Verlinskaya D2., Kuznetzova T 1 Baranov V.S. 1
*Corresponding Author: Professor Dr. Vladislav S. Baranov, Laboratory of Prenatal Diagnosis of Inherited Disorders, 1The D. O. Ott Institute of Obstetrics & Gynecology, the Russian Academy of Medical Sciences, Mendeleevskaya l., 3, Saint Petersburg, Russia fax +7 (812) 328 04 87; e-mail: svetavyach@mail.ru 2 Saint Petersburg Centre for Medical Genetics, Tobolskaya ul., 5, Saint Petersburg, Russia fax +7 (812) 542 67 76, e-mail: gkdmgenc@zdrav.spb.ru 3Russian-Finnish Medical Centre "AVA-Peter", Nevskii pr., 22/24, Saint Petersburg, Russia fax: +7 (812) 314 51 19, e-mail: avapeter@bcltele.com
page: 17

MATERIAL AND METHODS

88 patients  with phenotypical  traits  of TS at the age of 2-59 years  were  recrouted  in the   group.  Metaphase chromosomes and interphase nuclei from PHA-stimulated  blood lymphocytes, and buccal mucosal cells were used for cytogenetic and FISH-analysis. Samples of DNA for molecular  studies were obtained from peripheric blood leukocytes. Metaphase chromosomes     were prepared  according  by  standard protocol  and  stained by modified   a QFH/AcD banding method (Kuznetzova, etc., 1999).  At least 11 metaphases were scored for each patient. Karyological studies of  buccal mucosal cells were performed  on the dried  slide spreads.

FISH with X-and Y-specific centromeric DNA-probes (DXZ1 and DYZ3 respectively) and suppressive hybridization with whole chromosome paints for the ?- and Y-chromosomes (WCP X, WCP Y) were carried out according to the modified technique (Kuznetzova, etc., 1999). Hybridization signals from biotin labeled probes were detected using two layers of avidin-FITC (bio) (Vector Laboratories). DNA-probes were labeled with biotin (bio-16-dUTP) by nick-translation  (Kuznetzova, etc., 1999). The slides were counter-stained with propidium iodide and 4,6-diamino-2-phenyl-indole. In order to detect mosaicism a minimum of 100 post-hybridization metaphases and 500 interphase nuclei were analyzed in each patient. Analysis was performed with a conventional Leica DMLS fluorescent microscope. Images were captured by a CCD camera and examined with Adobe Photoshop 7.0 software.

DNA extraction from peripheric blood leukocytes was carried out by the standard procedures (Ivaschenko, etc., 1999). Three sets of oligonucleotide primers were used for Y-specific sequences amplification: DYZ1, DYZ3, DYS1, DYS216, DYS225, DYS281 and HMG boxing of SRY gene. The  primers flanking the fragments of cytochrome gene (?yp1A1, CYP1A2 15q22-24)  were included as control of the amplification in all multisystems (Loginova, etc., 2000). PCR amplification was carried out according to the standard protocols (Loginova, etc., 2000). The amplification products were visualized by electrophoresis through 6% polyacrylamide and ethidium bromide staining.

 




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