Author/Editor		Kokalj-Vokač, Nadja; Zagorac, Andreja
Title		Nove metode v medicinski citogenetiki
Translated title		New methods in clinical cytogenetics
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 68, št. 3
Publication year		1999
Volume		str. 165-70
Language		slo
Abstract		Background. The field of cytogenetics has developed enormously in recent years by advances in techniques of fluorescence "in situ" hybridization (FISH). The type and material that can be used as a hybridization probe has expanded rapidly, ranging from small sequences of genomic DNA, through whole-chromosome paints, to the whole genome used in comparative genomic hybridization (CGH). Various DNA probes are used simultanously in multicolor FISF (M-FISH) and spectral karyotyping (SKY). Regions of recurrent alterations can be microdisected and amplified by polymerase chain reaction (PCR), method mostly used for construction of the probes. For gene mapping, probes are localized on ectended chromosomes or chromatin fibres. Development of highresolution cameras and image analysis make possible the advance in molecular cytogenetic. Conclusions. All these methods are used in research studies and clinical applications: preimplantation genetics, pre-and postnatal diagnosis and oncogenetics. In following article also some our cases using FISH techniques are demonstrated.
Summary		Izhodišča. Citogenetika se je s pojavom novih tehnik fluorescenčne "in situ" hibridizacije (FISH) izredno razvila. osnovni metodi hibridizacije ene DNA-sonde na kromosome so sledile številne metode od barvanja kromosomov, hibridizacije večjega števila DNA-sond hkrati na metafazne kromosome - večbarvna FISH in spektralna kariotipizacija (SKY), do hibridizacije celotnih genomov pri primerjalni genomski hibridizaciji (CGH). Kromosomske regije s ponavljajočimi se preureditvami lahko izrežemo z mikrodisekcijo in DNA material pomnožimo. Za izdelavo DNA-sond se pogosto uporabi verižna reakcija s polimerazo (PCR). Za gensko kartiranje uporabljamo metodo lokalizacije DNA-sond na iztegnjenih kromosomih oz. kromatinskih nitih. Velik napredek je prinesel razvoj visokoresolucijskih kamer in računalniške opreme za analizo slike. Zaključki. Vse metode molekularne citogenetike se uporabljajo za raziskovalne in klinične namene: preimplantacijsko genetiko, pre- in postnatalno diagnostiko in onkogenetiko. V članku prikazujemo tudi nekatere primere uporabe metode FISH v našem laboratoriju.
Descriptors		HYBRIDIZATION CYTOGENETICS IN SITU HYBRIDIZATION, FLUORESCENCE CHROMOSOME MAPPING CHROMOSOMES, HUMAN