Ģenētiskās izmaiņas pārmantotās melanomas pacientiem Latvijā

6533b7d3fe1ef96bd125fa33

RESEARCH PRODUCT

Ģenētiskās izmaiņas pārmantotās melanomas pacientiem Latvijā

subject

riska gēni melanoma Bioloģija HaloPlex platforma nomaiņas

description

Melanoma ir multifaktoriāla slimība, kas attīstās ādas pigmenta šūnu, melanocītu, nekontrolētas dalīšanās rezultātā. Bakalaura darba mērķis bija izvērtēt izmaiņas augsta un vidēja riska melanomas jutības gēnos pacientiem, kuru anamnēzē ir vairāki saslimšanas gadījumi ar melanomu vai arī saslimšanas gadījumi ar aizkuņģa dziedzera audzēju vai nervu sistēmas audzēju. Kopā darbā izanalizēti 39 melanomas pacienti, 9 pacientu ģimenes locekļi un viens pacients ar acs melanomu. Ar paralēlo daudzķēžu sekvenēšanas metodi izanalizētajos 4 gēnos (BAP1, POT1, CDKN2A un MC1R) kopumā atrastas 11 nomaiņas. Papildus 3 analizētajos gēnos (TERT, CDK4 un MITF) izmaiņas atrastas netika. Kā potenciāli bīstamas novērtētas līdz šim neaprakstītas nomaiņas BAP1 (Pro293Leu) un POT1 (Leu153STOP). Atslēgas vārdi: melanoma, riska gēni, HaloPlex™ platforma, nomaiņas.

year	journal	country	edition	language
2017-01-01

https://dspace.lu.lv/dspace/handle/7/35190

PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
  - PE2_1Theory of fundamental interactions
  - PE2_2 Phenomenology of fundamental interactions
  - PE2_3Experimental particle physics with accelerators
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  - PE2_6Nuclear, hadron and heavy ion physics
  - PE2_8Gas and plasma physics
  - PE2_5Classical and quantum physics of gravitational interactions
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  - PE2_10Atomic, molecular physics
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- PE1Mathematics
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SHSocial Sciences and Humanities
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