"Hyperhomocysteinemie v t\u011Bhotenstv\u00ED: \u00FAloha genetick\u00FDch faktor\u016F p\u0159i vzniku defekt\u016F neur\u00E1ln\u00ED trubice, orofaci\u00E1ln\u00EDch roz\u0161t\u011Bp\u016F a preeklampsie" . . . . . "The project is aimed at studying genetic component of selected complications of pregnancy that are associated with hyperhomocysteinemia. We will employ linkage and linkage disequilibrium approach for analyzing 10 genes involved in homocysteine metabolismWe will colect genomic DNA samples from following number of patients and - 5 family members of each patient: - 150 with preeclampsia, - 300 with orofacial clefts and - 150 with neural tube defects. We will also analyze - 30 families with multiple patientWe will analyze total of - 20- 50 loci in the 10 genes in each of the projected 4, 000 individual genomic DNA samples using mostly single nucleotide polymorphisms and DNA microarray technology. The linkage and linkage disequilibirum analyzes will be used to determined whether the selected allelic variants, and whether any of the studied genes are associated with preeclampsia, neural tube defects and orofacial clefts."@en . . "0"^^ . "NM6548" . . . "http://www.isvav.cz/projectDetail.do?rowId=NM6548"^^ . "mutation" . "Projekt je zam\u011B\u0159en\u00FD na studium genetick\u00FDch faktor\u016F u vybran\u00FDch komplikac\u00ED t\u011Bhotenstv\u00ED, kter\u00E9 jsou prov\u00E1zen\u00E9 hyperhomocysteinemi\u00ED. V projektu budeme analyzovat 10 gen\u016F zodpov\u011Bdn\u00FDch za metabolismus homocysteinu metodami vazebn\u00E9 anal\u00FDzy. Od ka\u017Ed\u00E9ho pacienta a jeho -5 rodinn\u00FDch p\u0159\u00EDslu\u0161n\u00EDk\u016F zajist\u00EDme vzorky genomov\u00E9 DNA takto. 150 \u017Een s preeklampsi\u00ED, 300 pacient\u016F s orofaci\u00E1ln\u00EDm roz\u0161t\u011Bpem a 150 pacient\u016F s defektem neur\u00E1ln\u00ED trubice. D\u00E1le vy\u0161et\u0159\u00EDme - 30 rodin s n\u011Bkolika posti\u017Een\u00FDmi jedinci. V 10 genech budeme u ka\u017Ed\u00E9ho z o\u010Dek\u00E1van\u00E9ho po\u010Dtu 4000 jedinc\u016F vy\u0161et\u0159ovat - 20-50 marker\u016F a polymorfism\u016F, v\u011Bt\u0161inou budeme analyzovat bodov\u00E9 polymorfismy a vyu\u017Eijeme techniku DNA \u010Dipu. Z\u00EDskan\u00E1 data vyhodnot\u00EDme technikami vazebn\u00E9 anal\u00FDzy a anal\u00FDzy vazebn\u00E9 nerovnov\u00E1hy, c\u00EDlem anal\u00FDz bude zjistit, zda se vy\u0161et\u0159ovan\u00E9 geny a jejich alelick\u00E9 varianty pod\u00EDlej\u00ED na vzniku preeklampsie, roz\u0161t\u011Bp\u016F nervov\u00E9 trubice a orofaci\u00E1ln\u00EDch roz\u0161t\u011Bp\u016F." . "preeclampsia" . "homocysteine" . . . "1"^^ . "neural tube defects;orofacial clefts;preeclampsia;homocysteine;genetic;linkage analysis;mutation;pregnancy"@en . "linkage analysis" . "5"^^ . . "genetic" . "6"^^ . "neural tube defects" . . "6"^^ . . "Systematick\u00FD v\u00FDzkum na rozs\u00E1hl\u00E9m souboru pacient\u016F p\u0159isp\u011Bl ke studii polygenn\u00EDho p\u016Fvodu VVV plodu a z\u00E1va\u017En\u00E9 t\u011Bhotensk\u00E9 patologie - preeklampsie. Zji\u0161t\u011Bn\u00ED nep\u0159\u00EDzniv\u00FDch vliv\u016F hyperhomocysteinemie lze vyu\u017E\u00EDt v klinice."@cs . "2005-05-13+02:00"^^ . . . "Complication of pregnancy associated with hyperhomocysteinemia: the role of genetic variants in the development of neural tube defects, orofacial clefts, and preeclampsia"@en . "orofacial clefts" . . .