Mitohondriālo saslimšanu molekulāro diagnostikas metožu izstrāde

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RESEARCH PRODUCT

Mitohondriālo saslimšanu molekulāro diagnostikas metožu izstrāde

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Šūnās iedzimtības informāciju DNS formā satur ne tikai kodols, bet arī mitohondriji. Mutācijas mtDNS gēnos var izraisīt nopietnas mitohondriālās saslimšanas. Mitohondriālās saslimšanas ir klīniski, bioķīmiski un ģenētiski heterogēnas. Darba „Mitohondriālo saslimšanu molekulāro diagnostikas metožu izstrāde” mērķis bija izstrādāt ģenētiskās metodes mitohondriālo saslimšanu diagnosticēšanai. Tika veikta mtDNS sekvenēšana, heteroplazmijas noteikšana un delēciju analīze. Darbā tika izanalizētas 25 pilna garuma mtDNS sekvences. Vienā gadījumā tika atklāta mutācija ND6 gēnā, kas izraisa aminoskābju nomaiņu. Tika pārbaudīta heteroplazmija mtDNS paraugos, kas izdalīti no viena pacienta asinīm un urīna. Vienam paraugam tika veikta delēciju analīze. Atslēgas vārdi: Mitohondriālā DNS, mitohondriālās saslimšanas, sekvenēšana, heteroplazmija.

year	journal	country	edition	language
2013-01-01

https://dspace.lu.lv/dspace/handle/7/26889

PEPhysical Sciences and Engineering
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