Zbornik - Društvo genetičara Srbije

180 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Uvo-1
Subotica, 30. novembar - 4. decembar 2004.
DETEKCIJA MIKRODELECIONIH SINDROMA PRIMENOM
FLUORESCENTNE in situ HIBRIDIZACIJE
Danijela Drakuliæ, Gordana Nikèeviæ i Milena Stevanoviæ
Institut za molekularnu genetiku and genetièko inenjerstvo, Beograd
Mikrodelecioni sindromi obuhvataju heterogenu grupu poremeæaja nastalih usled
delecija specifiènih regiona hromozoma koje se ne mogu detektovati primenom
standarnih teknika za analizu hromozoma. Gubitak genetièkog materijala moe se
analizirati primenom Fluorescentne in situ Hibridizacije (FISH). FISH je tehnika koja je
bazirana na hibridizaciji florescentno obeleene probe specifiène za odreðeni region
hromozoma sa ciljnom DNK pacijenata prisutnom u metafaznim hromozomima. Pri
tome odsustvo hibridizacije potvrðuje mikrodelecioni sindrom. Kao izvor materijala za
pripremu hromozomskih preparata moe se koristiti periferna krv, amnionska teènost,
horionske èupice, kao i uzorci tkiva.
Mikrodelecioni sindromi su vrlo èesto povezani sa pojavom specifiènih poremeæaja, tako
da klinièka slika nosioca ukazuje na prisutvo specifiène mikrodelecije. Mikrodelecija
Del(22)(q11.2) je najzastupljenija kod mikrodelecionih sindroma i nju karakteriše
prisustvo srèanih malformacija, poremeæaja glave i lica, rascep nepca, kao i hipoplazija
timusa i paratireoidnih lezda. Zavisno od teine klinièke slike ova mikrodelecija se
moe povezati sa nastankom nekoliko razlièitih sindroma koji ukljuèuju DiGeorge
sindrom, CTAF (Conotruncal Anomaly Face Sindrom) kao i velokardiofacijalni sindrom.
U ovom radu prikazana je detekcija mikrodelecije 22q11.2 kod pacijenata primenom
mešavine proba koja se sastoji od Spectrum Orange TUPLE1 (HIRA) probe kao i Spectrum
Green LSI ARSA kontrolne probe koja je mapirana na telomernom regionu dugog
kraka hromozoma 22 u regionu 22q13.3.
DETECTION OF MICREDELETION SYNDROMES BY
FLUORESCENT in situ HYBRIDIZATION (FISH)
Microdeletion syndromes are a heterogeneous group of disorders caused by deletion of
specific regions of chromosomal DNA that are not visible using standard chromosome
analysis. The loss of these genomic sequences can be demonstrated using FISH (Fluorescent
in situ Hybridization) techniques. FISH is a technique that can be used to hybridize
fluorescently labeled DNA probes to a specific chromosomal region, the loss of which
results in a microdeletion syndrome. The probe for the region of interest and a control
probe to the same chromosome are hybridized to metaphase chromosomes. Chromosomes
from various sources including amniotic fluid, chorionic villi, peripheral blood,
and tissue samples can be used for FISH to rule out microdeletion syndromes.
Specific abnormalities are often associated with microdeletion syndromes and the phenotype
of the carriers of such chromosomal changes frequently give clues to the underlying
deletion. Del(22)(q11.2) microdeletion is among the most common of the microdeletion
syndromes and is characterized by cardiac malformations, craniofacial features, cleft palate,
thymic hypoplasia, and hypoparathyroidism. The severity of the condition can be
very variable and is now recognized as the basis of several independently described syndromes:
DiGeorge syndrome, conotruncal face anomaly syndrome, and velo-cardiofacial
syndrome.
Here we present detection of 22q11.2 microdeletion in the carriers using two color probe
mixture that contains the Spectrum Orange TUPLE1 (HIRA) probe and the Spectrum
Green LSI ARSA gene control probe that maps very close to the telomeric end of 22q at
22q13.3.