MODY izraisošo mutāciju detektēšana, izmantojot eksomu sekvenēšanu

6533b854fe1ef96bd12af881

RESEARCH PRODUCT

MODY izraisošo mutāciju detektēšana, izmantojot eksomu sekvenēšanu

subject

eksomu sekvenēšana GCK MODY Bioloģija HNF4a HNF1a

description

MODY (Maturity Onset Diabetes of the Young) ir monogēnā cukura diabēta veids, kam raksturīga autosomāli dominanta pārmantošana un simptomu izpausme pirms 25 gadu vecuma. Mutācija kādā no trim gēniem – HNF1α, HNF4α un GCK, sastāda 70-80% MODY gadījumu, tomēr pastāv vēl vismaz 10 gēni, kuros radušās mutācijas spēj izraisīt MODY simptomus. Bakalaura darba mērķis ir detektēt MODY izraisošās mutācijas, izmantojot eksomu sekvenēšanu. Eksomu sekvenēšana tika veikta 11 pacientiem no trim ģimenēm. Vienā no ģimenēm tika atrasta jauna mutācija HNF1α, kas ir tikai ģimenes locekļiem ar MODY un noteikta kā slimību izraisoša, tādējādi apstiprinot diagnozi MODY3. Bakalaura darbs tika izstrādāts Latvijas Biomedicīnas pētījumu un studiju centrā.

year	journal	country	edition	language
2015-01-01

https://dspace.lu.lv/dspace/handle/7/30253

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