Mutācijas riska gēnos pacientiem ar atkārtotiem melanomas saslimšanas gadījumiem ģimenē

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Mutācijas riska gēnos pacientiem ar atkārtotiem melanomas saslimšanas gadījumiem ģimenē

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Melanoma ir bīstamākais ādas audzēja veids, kas attīstās pigmentu producējošo šūnu, melanocītu, nekontrolētas dalīšanās rezultātā. Melanomas kā multifaktoriālas saslimšanas attīstībā nozīme ir gan apkārtējās vides, gan ģenētisku riska faktoru mijiedarbībai. Galvenie līdz šim identificētie augsta riska melanomas jutības gēni ir CDKN2A, kurā mutācijas sastop apmēram pusē „melanomas ģimeņu” un CDK4, kurā mutācijas sastopamas mazāk kā 1% gadījumu. Latvijas populācijā līdz šim atrasta mutācija p.R24H gēnā CDK4, bet gēna CDKN2A kodējošajā daļā mutācijas nav atrastas. Bakalaura darba mērķis bija izanalizēt līdz šim Latvijas melanomas pacientiem neaplūkoto gēna CDKN2A promotera reģionu un intronus pacientiem ar atkārtotiem melanomas saslimšanas gadījumiem ģimenē. Tika veikta arī gēna CDK4 2. eksona analīze, kā arī delēciju analīze 9p21 lokusā. Kopā darbā tika izanalizēti 28 melanomas pacientu DNS paraugi. Gēna CDKN2A promotera un intronu analīzē tika konstatēti vairāki polimorfismi, kuriem nav parādīta saistība ar melanomas attīstību. Intronu analīzē detektēti divi jauni sekvences varianti. Delēciju analīzē atklāta pirmā mutācija gēnā CDKN2A Latvijas melanomas pacientam – delēcija gēna CDKN2A/p14ARF promotera reģionā. Gēna CDK4 analīzē atrasts trešais Latvijas melanomas pacients ar mutāciju p.R24H. Atslēgas vārdi: Melanoma, riska gēni, mutācijas, CDKN2A, CDK4, 9p21.

year	journal	country	edition	language
2011-01-01

https://dspace.lu.lv/dspace/handle/7/16920

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