In hereditary retinoblastoma, mutations in the RB1 gene like to be inherited in an autosomal dominant pattern. Autosomal dominant qub txeeg qub teg txhais tau hais tias ib daim qauv ntawm cov noob hloov pauv hauv txhua lub xov tooj yog txaus los ua kom muaj kev pheej hmoo mob qog noj ntshav.
Puas yog retinoblastoma yog ib yam kab mob caj ces?
Puas retinoblastoma tuaj yeem tau txais txiaj ntsig? Kwv yees li 40 feem pua ntawm cov menyuam yaus uas muaj retinoblastoma muaj ib hom kab mob tshwm sim. Qee cov menyuam yaus uas muaj keeb kwm retinoblastoma tau txais kev hloov pauv ntawm RB1 los ntawm niam txiv uas muaj retinoblastoma thaum nws tseem yog menyuam yaus.
Yam hloov pauv dab tsi ua rau retinoblastoma?
Heritable or bilateral retinoblastoma
Hais txog 1 ntawm 3 tus menyuam yaus uas muaj retinoblastoma muaj ib cov kab mob hloov pauv hauv ib lub noob RB1; uas yog, RB1 noob hloov pauv nyob rau hauv tag nrho cov hlwb hauv lub cev. Hauv feem ntau ntawm cov menyuam yaus no (75%), qhov kev hloov pauv no tshwm sim thaum ntxov hauv kev loj hlob, thaum tseem nyob hauv plab.
Thaum twg yog lub hauv paus caj ces ntawm retinoblastoma thawj zaug?
Tus qauv ua haujlwm ntawm cov qog qog qog ntshav tau thawj zaug los ntawm Alfred Knudson hauv xyoo 1970s uas tau piav qhia meej txog cov txheej txheem ntawm retinoblastoma. Yog tias ob leeg alleles ntawm cov noob no tau hloov pauv, cov protein tsis ua haujlwm thiab qhov no ua rau muaj kev loj hlob ntawm retinoblastoma.
retinoblastoma yog dab tsi thiab nws lub hauv paus caj ces yog dab tsi?
Retinoblastoma yog tshwm sim los ntawm hloov pauv (mutations) hauv retinoblastoma 1 (RB1) noob hauv retinoblasts. Cov kev hloov pauv no ua rau retinoblasts loj hlob ntawm kev tswj hwm thiab tsim cov qog hu ua retinoblastoma. Muaj 2 daim ntawv theej ntawm RB1 noob hauv txhua lub cell.
