Neiromuskulāro slimību prenatālo un postnatālo diagnostikas metožu izstrāde un optimizācija

6533b83afe1ef96bd12a73b7

RESEARCH PRODUCT

Neiromuskulāro slimību prenatālo un postnatālo diagnostikas metožu izstrāde un optimizācija

Laura Voškāne

subject

Prenatālā diagnostika Mātes šūnu kontaminācija Mātes parauga kontaminācija Bioloģija DMD gēns

description

Prenatālā diagnostika ir metožu kopums, ar kuru palīdzību nosaka strukturālas un ģenētiskas anomālijas auglī. Bakalaura darba mērķis ir pielāgot un pārbaudīt jau esošās metodes posnatālās un prenatālās diagnostikas mērķiem. Darba izstrādē svarīgākās molekulārās bioloģijas metodes ir STR analīžu veikšana, Sangera sekvenēšana un QR-PCR. Tika analizēti kontroles grupas un pacientu DNS paraugi, noteiktas delēcijas un duplikācijas DMD gēnā, kā arī mātes DNS iespējamā kontaminācija bērna paraugā. Optimizētās metodes ir efektīvas, tomēr tām nepieciešama uzlabošana. Anotācija Prenatālā diagnostika ir metožu kopums, ar kuru palīdzību nosaka strukturālas un ģenētiskas anomālijas auglī. Bakalaura darba mērķis ir pielāgot un pārbaudīt jau esošās metodes posnatālās un prenatālās diagnostikas mērķiem. Darba izstrādē svarīgākās molekulārās bioloģijas metodes ir STR analīžu veikšana, Sangera sekvenēšana un QR-PCR. Tika analizēti kontroles grupas un pacientu DNS paraugi, noteiktas delēcijas un duplikācijas DMD gēnā, kā arī mātes DNS iespējamā kontaminācija bērna paraugā. Optimizētās metodes ir efektīvas, tomēr tām nepieciešama uzlabošana.

year	journal	country	edition	language
2016-01-01

https://dspace.lu.lv/dspace/handle/7/32210

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