Oculocutaneous albinism yog ib pab pawg ntawm cov kab mob uas tshwm sim los ntawm depigmentation ntawm daim tawv nqaij, plaub hau thiab qhov muag. Qhov tseeb, muaj melanin pigment nyob rau hauv lub iris thiab lub retina txhais tau hais tias albinism yog ib txwm nrog ophthalmological kev koom tes.

Albinism, yog dab tsi?

Kev txhais ntawm albinism

Oculocutaneous albinism yog vim muaj qhov tsis xws luag hauv kev tsim cov xim melanin los ntawm melanocytes, vim yog kev hloov ntawm caj ces.

Ntau hom albinism:

Albinism hom 1

Lawv tshwm sim los ntawm kev hloov pauv hauv cov noob rau cov enzyme tyrosinase uas ua lub luag haujlwm tseem ceeb hauv kev tsim cov xim los ntawm melanocytes.

Albinism hom 1A

Muaj tag nrho kev tshem tawm ntawm tyrosinase enzyme kev ua haujlwm. Yog li ntawd, cov neeg mob tsis muaj xim nyob rau hauv daim tawv nqaij, plaub hau thiab ob lub qhov muag txij thaum yug los, ua rau lawv dawb mus rau cov plaub hau dawb nrog liab ob lub qhov muag (cov xim tsis xws luag nyob rau hauv lub iris ua rau lub retina pom liab los ntawm lub qhov muag).

Albinism hom 1B

Qhov txo qis hauv tyrosinase kev ua haujlwm yog cim ntau lossis tsawg dua. Cov neeg mob tsis muaj xim nyob rau hauv daim tawv nqaij thiab ob lub qhov muag thaum yug los, ua rau lawv dawb nrog lub qhov muag liab, tab sis los ntawm thawj lub hlis ntawm lub neej qhia tau hais tias cov xim ntawm cov xim sib txawv tshwm sim rau ntawm daim tawv nqaij thiab iris. (xws li xiav mus rau txiv kab ntxwv-daj). Peb hais txog daj mutant lossis daj albinism.

Albinism hom 2

Nws yog qhov feem ntau ntawm albinisms, tshwj xeeb tshaj yog nyob rau Africa. Lub luag haujlwm gene yog P gene ntawm chromosome 15 ua lub luag haujlwm hauv kev thauj cov tyrosine.

Thaum yug los, cov me nyuam dub muaj cov tawv nqaij dawb tab sis cov plaub hau daj. Raws li cov plaub hau loj hlob tuaj, nws hloov xim av thiab daim tawv nqaij yuav kis tau freckles, tsaus me ntsis los yog moles. Cov irises yog xiav los yog daj rau lub teeb xim av.

Albinism hom 3

Nws yog tsawg heev thiab tsuas muaj nyob rau ntawm daim tawv nqaij dub. Nws txuas nrog kev hloov pauv hauv cov noob encoding TRP-I: daim tawv nqaij yog dawb, irises lub teeb ntsuab-xim av thiab cov plaub hau liab.

Lwm yam tsis tshua muaj hom albinism

Hermansky-Pudlak Syndrome

Los ntawm kev hloov pauv ntawm cov noob ntawm chromosome 10 encoding lysosome protein. Cov tsos mob no koom nrog albinism nrog cov kab mob coagulation, pulmonary fibrosis, granulomatous colitis, raum tsis ua haujlwm thiab cardiomyopathy.

Syndrome de Chediak-Higashi

Los ntawm kev hloov pauv ntawm cov noob ntawm chromosome 1 encoding cov protein koom nrog hauv kev thauj cov xim. Cov tsos mob no koom nrog ib qho kev sib txawv me ntsis, cov plaub hau nrog cov xim hlau "silvery" grey reflection, thiab muaj kev pheej hmoo ntawm lymphoma los ntawm cov hluas.

Griscelli-Pruniéras Syndrome

Los ntawm kev hloov pauv ntawm cov noob ntawm chromosome 15 encoding cov protein ua lub luag haujlwm hauv kev tshem tawm cov xim, nws koom nrog cov tawv nqaij nruab nrab depigmentation, cov plaub hau nyiaj thiab cov tawv nqaij nquag, ENT thiab kab mob ua pa nrog rau kev pheej hmoo ntawm cov ntshav. tuag taus.

Ua rau albinism

Albinism yog ib kab mob caj ces los ntawm kev hloov pauv ntawm cov noob encoding qhov tsim lossis xa cov xim ntawm daim tawv nqaij los ntawm melanocytes. Cov tawv nqaij thiab integuments yog li ntawd tsis muaj peev xwm ntawm pigmenting kom zoo.

Hom kev kis tus kab mob no los ntawm niam txiv mus rau tus me nyuam yog feem ntau ntawm cov neeg mob autosomal recessive, piv txwv li ob niam txiv yuav tsum yog cov neeg nqa ntawm cov noob uas tsis tau qhia hauv lawv thiab ob lub noob no (ib leej txiv, lwm leej niam) pom. hauv tus menyuam.

Peb txhua tus muaj ob lub noob, ib qho yog qhov tseem ceeb (uas qhia nws tus kheej) thiab lwm qhov tsis zoo (uas tsis qhia nws tus kheej). Yog hais tias tus recessive gene muaj kev hloov pauv, nws tsis yog qhia nyob rau hauv tus neeg uas muaj cov noob tseem ceeb uas tsis hloov pauv. Ntawm qhov tod tes, thaum lub sij hawm tsim gametes (spermatozoa hauv cov txiv neej thiab oval hauv poj niam), ib nrab ntawm gametes tau txais cov noob hloov pauv. Yog hais tias ob tug neeg xeeb menyuam thiab yog cov nqa ntawm cov noob hloov pauv, ces muaj kev pheej hmoo tias tus menyuam yuav muaj keeb kwm los ntawm cov phev nqa cov noob hloov pauv thiab los ntawm lub qe nqa tib lub noob qes. Raws li tus me nyuam tsis muaj cov noob tseem ceeb tab sis ob lub noob tau hloov pauv, nws mam li nthuav tawm tus kab mob. Qhov no tshwm sim yog tsawg heev, yog li feem ntau tsis muaj lwm yam mob ntawm albinism nyob rau hauv tag nrho tsev neeg.

Leej twg yog feem cuam tshuam?

Albinism tuaj yeem cuam tshuam rau cov neeg Caucasian tab sis nws muaj ntau dua hauv Africa ntawm daim tawv nqaij dub.

Evolution thiab teeb meem ua tau

Cov teeb meem tseem ceeb tshwm sim los ntawm albinism yog qhov muag thiab tawv nqaij. Tsis muaj lwm cov ntshav lossis cov teeb meem hauv nruab nrog cev tshwj tsis yog hauv Hermansky-Pudlak, Chediak-Higashi thiab Griscelli-Prunieras tsis tshua muaj.

tawv nqaij txaus ntshai

Lub teeb dawb yog ua los ntawm ob peb xim "sib dhos", uas "sib cais" piv txwv li thaum tsim ib zaj sawv. Cov xim tshwm sim los ntawm cov cuab yeej uas molecules muaj absorbing tag nrho cov xim ntawm lub teeb tsuas yog ib qho, piv txwv li xiav absorbs txhua yam tsuas yog xiav, uas yog reflected ntawm peb retina. Dub tshwm sim los ntawm kev nqus ntawm tag nrho cov xim. Cov xim dub ntawm daim tawv nqaij ua rau nws tuaj yeem nqus cov xim ntawm lub teeb tab sis kuj thiab tshwj xeeb tshaj yog Ultra Violets (UV) uas ua rau muaj kev pheej hmoo carcinogenic rau ntawm daim tawv nqaij. Qhov tsis muaj cov xim uas tshwm sim los ntawm tus kab mob ua rau cov neeg mob cov tawv nqaij "pob tshab" rau UV rays vim tsis muaj dab tsi absorbs lawv thiab lawv tuaj yeem nkag mus rau ntawm daim tawv nqaij thiab ua rau cov hlwb puas, ua rau muaj kev pheej hmoo ntawm mob qog noj ntshav.

Cov menyuam yaus raug kev txom nyem los ntawm albinism yog li ntawd yuav tsum zam kom tsis txhob muaj kev sib cuag ntawm lawv cov tawv nqaij nrog UV rays los ntawm kev teeb tsa lawv cov dej num (hauv tsev es tsis yog kev ua si sab nraum zoov, piv txwv li), hnav npog thiab tiv thaiv khaub ncaws thiab khoom siv hnub ci.

Qhov muag pheej hmoo

Cov neeg mob albinism tsis yog qhov muag tsis pom, tab sis lawv qhov muag pom kev, nyob ze thiab deb, txo qis, qee zaum hnyav, yuav tsum tau hnav cov lo ntsiab muag kho, feem ntau tinted los tiv thaiv lub qhov muag los ntawm lub hnub vim lawv tsis muaj xim xim.

Los ntawm kindergarten, tus me nyuam albino raug kev txom nyem los ntawm qhov muag tsis pom kev yog muab tso rau ze li sai tau rau pawg thawj coj saib thiab yog tias ua tau, pab los ntawm tus kws qhia tshwj xeeb.