{"id":1569,"date":"2014-01-18T18:52:09","date_gmt":"2014-01-18T17:52:09","guid":{"rendered":"http:\/\/slanedeti.sk\/cms\/?p=1569"},"modified":"2014-01-18T18:55:11","modified_gmt":"2014-01-18T17:55:11","slug":"vyskyt-cftr-mutacii-v-cechach-porovnanie-s-okolitymi-krajinami","status":"publish","type":"post","link":"https:\/\/slanedeti.sk\/cms\/vyskyt-cftr-mutacii-v-cechach-porovnanie-s-okolitymi-krajinami\/1569","title":{"rendered":"V\u00fdskyt CFTR mut\u00e1cii v \u010cech\u00e1ch a porovnanie s okolit\u00fdmi krajinami"},"content":{"rendered":"

V septembrovom vydan\u00ed Journal of Cystic Fibrosis boli publikovan\u00e9 v\u00fdsledky v\u00fdskumu viacer\u00fdch autorov, ktor\u00ed analyzuj\u00fa distrib\u00faciu CFTR mut\u00e1cii v \u010deskej popul\u00e1cii [1]. V\u00fdskum prebiehal najm\u00e4 na Univerzitnej nemocnici v Motole, ale podie\u013eali sa na \u0148om aj vedci zo Slovenska a Nemecka.<\/p>\n

Jedn\u00e1 sa o s\u00fahrnn\u00fa \u0161t\u00fadiu, ktor\u00e1 zah\u0155\u0148ala 600 CF pacientov z \u010ceskej republiky (\u010cR), pri\u010dom bolo identifikovan\u00fdch 99,5 % mut\u00e1cii v \u010deskej pacientskej popul\u00e1cii. \u010cesk\u00e1 popul\u00e1cia je zna\u010dne homog\u00e9nna (bez v\u00fdznamnej\u0161ieho vplyvu pris\u0165ahovalectva) a reprezentat\u00edvna pre ostatn\u00e9 stredoeur\u00f3pske popul\u00e1cie. V\u00fdskyt CF je v \u010cR na z\u00e1klade v\u00fdsledkov novorodeneck\u00e9ho skr\u00edningu odhadovan\u00fd na 1:4023 \u017eivo naroden\u00fdch det\u00ed.<\/p>\n

Vzorky boli analyzovan\u00e9 pomocou komer\u010dn\u00e9ho genetick\u00e9ho kitu (Elucigene CF-EU2v1), ktor\u00fdm bolo zachyten\u00fdch 90,5 % mut\u00e1cii. Pre vzorky, u ktor\u00fdch nebol kit schopn\u00fd identifikova\u0165 mut\u00e1ciu, bolo pou\u017eit\u00e9 DNA sekvenovanie. Celkovo bolo zisten\u00fdch 91 mut\u00e1cii, pri\u010dom bolo objaven\u00fdch 20 nov\u00fdch mut\u00e1cii, resp. nov\u00fdch variant. Z v\u00fdsledkov je zrejm\u00e9, \u017ee tak ako vo v\u00e4\u010d\u0161ine CF popul\u00e1cii, je dominantnou mut\u00e1ciou F508del a mal\u00fd po\u010det roz\u0161\u00edrenej\u0161\u00edch mut\u00e1cii dop\u013a\u0148a ve\u013ek\u00e9 mno\u017estvo m\u00e1lo roz\u0161\u00edren\u00fdch a\u017e vz\u00e1cnych mut\u00e1cii.<\/p>\n

 <\/p>\n

Na z\u00e1klade anal\u00fdzy bolo ur\u010den\u00e9 nasledovn\u00e9 zast\u00fapenie jednotliv\u00fdch mut\u00e1cii v CF pacientskej popul\u00e1cii v \u010cR (uveden\u00fdch je 30 najroz\u0161\u00edrenej\u0161\u00edch):
\n

\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Poradie<\/strong><\/td>\nMut\u00e1cia<\/strong><\/td>\nZast\u00fapenie v %<\/strong><\/td>\n<\/tr>\n
1<\/td>\nF508del<\/td>\n67,42<\/td>\n<\/tr>\n
2<\/td>\nCFTRdele2,3\/21kb\/<\/td>\n5,75<\/td>\n<\/tr>\n
3<\/td>\nG551D<\/td>\n2,92<\/td>\n<\/tr>\n
4<\/td>\nN1303K<\/td>\n2,42<\/td>\n<\/tr>\n
5<\/td>\nG542X<\/td>\n2<\/td>\n<\/tr>\n
6<\/td>\n3849+10kbC>T<\/td>\n1,67<\/td>\n<\/tr>\n
7<\/td>\n1898+1G>A<\/td>\n1,42<\/td>\n<\/tr>\n
8<\/td>\nR347P<\/td>\n0,92<\/td>\n<\/tr>\n
9<\/td>\n2143delT<\/td>\n0,92<\/td>\n<\/tr>\n
10<\/td>\n3272-26A>G<\/td>\n0,67<\/td>\n<\/tr>\n
11<\/td>\nI336K<\/td>\n0,58<\/td>\n<\/tr>\n
12<\/td>\nW1282X<\/td>\n0,58<\/td>\n<\/tr>\n
13<\/td>\nR553X<\/td>\n0,5<\/td>\n<\/tr>\n
14<\/td>\n2789+5G>A<\/td>\n0,5<\/td>\n<\/tr>\n
15<\/td>\nS945L<\/td>\n0,5<\/td>\n<\/tr>\n
16<\/td>\n574delA<\/td>\n0,42<\/td>\n<\/tr>\n
17<\/td>\n621+1G >T<\/td>\n0,42<\/td>\n<\/tr>\n
18<\/td>\n2184insA<\/td>\n0,42<\/td>\n<\/tr>\n
19<\/td>\n3141del9<\/td>\n0,42<\/td>\n<\/tr>\n
20<\/td>\nY122X<\/td>\n0,33<\/td>\n<\/tr>\n
21<\/td>\nE292K\/R709Q<\/td>\n0,33<\/td>\n<\/tr>\n
22<\/td>\n1717-1G>A<\/td>\n0,33<\/td>\n<\/tr>\n
23<\/td>\nD1152H<\/td>\n0,33<\/td>\n<\/tr>\n
24<\/td>\nR1162X<\/td>\n0,33<\/td>\n<\/tr>\n
25<\/td>\n4374+1G>T<\/td>\n0,33<\/td>\n<\/tr>\n
26<\/td>\nR334W<\/td>\n0,25<\/td>\n<\/tr>\n
27<\/td>\nCFTRdele13,14a<\/td>\n0,25<\/td>\n<\/tr>\n
28<\/td>\n3600+2insT<\/td>\n0,25<\/td>\n<\/tr>\n
29<\/td>\nCFTRdup19<\/td>\n0,25<\/td>\n<\/tr>\n
30<\/td>\nCFTRdele22,23<\/td>\n0,25<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n

Nasledovn\u00e1 tabu\u013eka porovn\u00e1va distrib\u00faciu najroz\u0161\u00edrenej\u0161\u00edch mut\u00e1cii s okolit\u00fdmi krajinami:<\/p>\n

\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Mut\u00e1cia<\/strong><\/td>\n\u010cR<\/strong><\/td>\nSlovensko<\/strong><\/td>\nBavorsko<\/strong><\/td>\nPo\u013esko<\/strong><\/td>\n<\/tr>\n
F508del<\/td>\n67,42<\/td>\n66,8<\/td>\n74<\/td>\n57<\/td>\n<\/tr>\n
CFTRdele2,3\/21kb\/<\/td>\n5,75<\/td>\n2,26<\/td>\n1,2<\/td>\n1,8<\/td>\n<\/tr>\n
G551D<\/td>\n2,92<\/td>\n<0,50<\/td>\n6,4<\/td>\n0,5<\/td>\n<\/tr>\n
N1303K<\/td>\n2,42<\/td>\n2,03<\/td>\n2,4<\/td>\n1,8<\/td>\n<\/tr>\n
G542X<\/td>\n2<\/td>\n4,06<\/td>\n3,2<\/td>\n2,6<\/td>\n<\/tr>\n
3849+10kbC>T<\/td>\n1,67<\/td>\n4,28<\/td>\nN\/A<\/td>\n2,7<\/td>\n<\/tr>\n
1898+1G>A<\/td>\n1,42<\/td>\n<0,50<\/td>\nN\/A<\/td>\nN\/A<\/td>\n<\/tr>\n
R347P<\/td>\n0,92<\/td>\n1,1<\/td>\n0,8<\/td>\nN\/A<\/td>\n<\/tr>\n
2143delT<\/td>\n0,92<\/td>\n1,1<\/td>\nN\/A<\/td>\nN\/A<\/td>\n<\/tr>\n
3272-26A>G<\/td>\n0,67<\/td>\n<0,50<\/td>\nN\/A<\/td>\nN\/A<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n

Porovnanie distrib\u00facie piatich najroz\u0161\u00edrenej\u0161\u00edch mut\u00e1cii:<\/p>\n

\"cftr<\/p>\n

Charakteristika v\u00fdskytu naj\u010dastej\u0161\u00edch mut\u00e1cii:<\/p>\n

F508del<\/strong> – celosvetovo najroz\u0161\u00edrenej\u0161ia CF mut\u00e1cia, dominantn\u00e1 takmer vo v\u0161etk\u00fdch CF popul\u00e1ci\u00e1ch<\/p>\n

CFTRdele2,3\/21kb\/<\/strong> – \u201cslovansk\u00e1\u201c mut\u00e1cia, najroz\u0161\u00edrenej\u0161ia je vo v\u00fdchodnej Eur\u00f3pe<\/p>\n

G551D<\/strong> \u2013 \u201ckeltsk\u00e1\u201c mut\u00e1cia, \u010dastej\u0161ie sa vyskytuje v z\u00e1padnej Eur\u00f3pe a n\u00e1sledkom vys\u0165ahovalectva tie\u017e v USA<\/p>\n

G542X<\/strong> – \u201cstredomorsk\u00e1\u201c mut\u00e1cia<\/p>\n

[1] Krenkova P. et al.; Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel\/de novo alleles and relevance for related\/derived populations; Journal of Cystic Fibrosis; Vol 12 (2013); 532-537<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

V septembrovom vydaní Journal of Cystic Fibrosis boli publikované výsledky výskumu viacerých autorov, ktorí analyzujú distribúciu CFTR mutácii v českej populácii [1]. Výskum prebiehal najmä na Univerzitnej nemocnici v Motole, ale podieľali sa na ňom aj vedci zo Slovenska a … Continued<\/a><\/p>\n","protected":false},"author":7,"featured_media":1571,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"kt_blocks_editor_width":"","footnotes":""},"categories":[253],"tags":[],"class_list":["post-1569","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-o-cystickej-fibroze"],"yoast_head":"\nV\u00fdskyt CFTR mut\u00e1cii v \u010cech\u00e1ch a porovnanie s okolit\u00fdmi krajinami - Slan\u00e9 deti<\/title>\n<meta name=\"description\" content=\"V\u00fdsledky v\u00fdskumu v\u00fdskytu CFTR mut\u00e1cii v \u010cR a porovnanie s okolit\u00fdmi krajinami.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/slanedeti.sk\/cms\/vyskyt-cftr-mutacii-v-cechach-porovnanie-s-okolitymi-krajinami\/1569\" \/>\n<meta property=\"og:locale\" content=\"sk_SK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"V\u00fdskyt CFTR mut\u00e1cii v \u010cech\u00e1ch a porovnanie s okolit\u00fdmi krajinami - 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