Original title:
Renální ageneze
Translated title:
Renal agenesis
Authors:
Svobodová, Iveta ; Musil, Zdeněk (advisor) ; Merta, Miroslav (referee) Document type: Master’s theses
Year:
2012
Language:
cze Abstract:
[cze][eng] Renální ageneze je pom rn asté, geneticky podmín né, onemocn ní. Geny, které vedou k jejímu vzniku, nejsou v ak stále potvrzené. P edm tem této práce bylo provést molekulárn genetickou analýzu dvou kandidátních gen , které mohou vést k renální agenezi u lov ka, gen kódujících tyrozinkinázový receptor RET a neurotrofický faktor GDNF. Byla provedena muta ní analýza 20 exon genu RET a 3 exon genu GDNF v souboru 20 pacient s diagnostikovanou unilaterální renální agenezí. Zji ovány byly také numericné zm ny obou gen . Cílem práce pak bylo identifikovat p ípadné mutace gen RET a GDNF a tím p isp t k jejich asociaci se vznikem ageneze ledvin. V souboru pacient nebyla nalezena ádná popsaná patogenní mutace, detekovány byly pouze t i popsané jednobodové polymorfizmy v genu RET. Polymorfizmus rs1800860 (GCG-GCA, Ala-Ala 432) se nachází v 7. exonu a byl nalezen u 11 pacient z celkových 20, z toho ve dvou p ípadech v homozygotním stavu. Polymorfizmus rs1800861 (CTT- CTG, Leu-Leu 769) je lokalizován v exonu 13 a byl identifikován u 6 z 20 pacient , z toho jeden pacient byl homozygotem pro minoritní alelu G. Polymorfizmus rs1800863 (TCC- TCG; Ser-Ser) v 15. exonu byl nalezen u 5 pacient , a to v dy v heterozygotní konstituci. Ve v ech p ípadech se jedná o asté polymorfizmy s frekvencí minoritní alely v populaci...Renal agenesis is relatively common, genetically determined, disease. Genes which lead to its origin are still unconfirmed. Subject of this study was to perform molecular-genetic analyses of two genes, which are candidate for origin of renal agenesis in humans, genes coding tyrosine kinase receptor RET and neurotrophic factor GDNF. Mutation analysis of 20 exons of RET and 3 exons of GDNF in group of 20 patients with diagnosed unilateral renal agenesis has been done. Numeric changes were also investigated. The aim of this work was to identify potential mutation of RET and GDNF genes and contribute to their association with renal agenesis formation. No pathogenic mutation has been found in the group of patients, only three known single-point polymorphisms in RET gene have been detected. Polymorphism rs1800860 (GCG-GCA, Ala-Ala 432) is situated in exon 7 and has been found in 9 of total 20 patients, thereof in two cases in homozygous state. Polymorphism rs1800861 (CTT-CTG, Leu-Leu 769) is located in exon 13 and has been identified in 3 of 20 patients, thereof one patient was homozygote for minority allele G. Polymorphism rs1800863 (TCC-TCG; Ser- Ser) in 15. exon has been found in 5 patients, at any time in heterozygous state. All cases are about common polymorphisms with frequency of minority allele...
Institution: Charles University Faculties (theses)
(web)
Document availability information: Available in the Charles University Digital Repository. Original record: http://hdl.handle.net/20.500.11956/43517