K thut lai hunh quang ti ch (FISH)

Th 3, 27-10-2015
T kha: Di truyn; FISH, lai hunh quang ti ch, nhim sc th; NST; Prader Willi,
Di George, Down, Klainerfelter, Turrner, Angelman, Cri-du-Chat, William; bo ph;
bch cu cp; u nguyn bo thn kinh; chn on sau sinh
FISH (Fluorescent insitu hybridization) l k thut trung gian gia di truyn t bo v di
truyn phn t, s dng mt on mi c hiu (probe) gn tn hiu hunh quang, pht
hin s c mt hoc vng mt ca mt on gen no trn nhim sc th, vi u im
nhanh, c hiu v chnh xc. FISH c bit c hiu qu trong vic pht hin nhng mt on
gen nh (microdeletion),hoc khng nh ngun gc ca cc loi chuyn on c bit.
Ngoi ra interphase FISH (FISH nhanh) cn c s dng rng ri trong chn on
trc sinh, pht hin nhng bt thng s lng ca mt s nhim sc th thng gp
(13,18,21,X,Y)
K thut FISH c ch nh trong cc trng hp sau:
* Chn on trc sinh cc bt thng s lng NST thai nhi.
* Pht hin cc mt on nh mt s hi chng di truyn.
* Xc nh cc on nhim sc th cha r ngun gc.
* Pht hin cc bt thng nhim sc th c hiu trong ung th.
K thut FISH trong chn on trc sinh:
K thut interphase FISH (FISH nhanh) c s dng sng lc mt s hi chng di
truyn thng gp: hi chng Down (trisomy 21), hi chng Patau (trisomy 13), hi chng
Edward (trisomy 18), hi chng Turner (monosomy X), hi chng Kleinerfelter (XXY) vi u
im:
* Nhanh: Thi gian xt nghim trong vng 48h k t khi nhn mu dch i. Hon
thnh cc th tc qun l cht lng xt nghim sau 4 ngy. Ch : Cc quyt nh nh ch
thai nghn khng nn ch da vo mt mnh kt qu FISH.
* chnh xc cao
* Yu cu ch 10-20ml dch i
* C th thc hin trn mu bnh phm gai rau.

K thut FISH pht hin mt on nh nhim sc th mt s hi chng di truyn.

T l gp t 1/5000 - 1/8000 tr sng, do mt mt on nh trn nhim sc th
tng ng, khng pht hin c trn cng thc nhim sc th thng thng (standard). FISH
gip khng nh cc chn on lm sng, v chn on trc sinh cho cc gia nh c tin s
sinh con mc cc hi chng ny.
Chng ti ng dng k thut FISH chn on mt s hi chng sau:

K thut FISH Pht hin cc bt thng nhim sc th c hiu trong ung th.
* Bch cu cp th ty hoc th lympho : nh gi cc thay i v nhim sc th,
c bit s c mt ca mt s chuyn an c hiu nh chuyn on nhim sc th s 9 v

22 (Ph1), s 4 v 11, s 8 v 21... c gi tr phn loi v tin lng iu tr.

* U nguyn bo thn kinh : nh gi cc thay i v nhim sc th, c bit l s
lp on ca gen NMYC, mt on nhnh ngn nhim sc th s 1, v thm on nhnh di
nhim sc th s 7... c gi tr c gi tr phn loi v tin lng iu tr.