Oculocutaneous albinism iboka rezvirwere zvenhaka zvinoratidzirwa nekuderera kweganda, bvudzi uye maziso. Muchokwadi, kuvepo kwe melanin pigment muiris uye retina zvinoreva kuti albinism inogara ichiperekedzwa nekubatanidzwa kwemaziso.

Albinism, chii ichocho?

Tsanangudzo yealbinism

Oculocutaneous albinism inokonzerwa nekukanganisika mukugadzirwa kwe melanin pigment nema melanocytes, nekuda kwekushanduka kwemajini.

Mhando dzakasiyana dzealbinism:

Albinism mhando yekutanga

Izvo zvinokonzerwa nekushanduka kwejini reiyo enzyme tyrosinase inoita basa rakakosha mukugadzirwa kwepigment nema melanocytes.

Albinism mhando 1A

Pane kubviswa zvachose kwebasa re tyrosinase enzyme. Varwere saka havana pigment paganda, bvudzi nemaziso kubva pakuzvarwa, zvichiita kuti chena kusvika kune chena bvudzi nemaziso matsvuku (pigment defect muiris inoita kuti retina ionekwe yakatsvuka kuburikidza)

Albinism mhando 1B

Kuderera kwebasa re tyrosinase kunowedzera kana kushoma. Varwere havana pigment muganda uye maziso pakuberekwa, zvichiita chena nemaziso matsvuku, asi kubva pamwedzi yokutanga yehupenyu zviratidzo zvepigment kugadzirwa kwekusiyana kwesimba zvinoonekwa paganda uye iris. (kusiyana kubva pabhuruu kusvika orenji-yellow). Tinotaura nezve yellow mutant kana yellow albinism.

Albinism mhando yekutanga

Ndiwo akanyanya kuwanda pakati pemaalbino, kunyanya muAfrica. Jeni rine mutoro ndiro P gene rekromosome 15 richiita basa mukutakurwa kwetyrosine.

Pakuzvarwa, vana vatema vane ganda jena asi vhudzi rakatsvukuruka. Bvudzi parinokura, rinoshanduka kuita-ruvara rweshanga uye ganda rinogona kuita magwere, makwapa akasviba kana kunyange mamorekuru. Mirozi ine bhuruu kana yero kusvika kune yebrown.

Albinism mhando yekutanga

Izvo zvisingawanzoitiki uye zviripo chete paganda dema. Inobatanidzwa nekuchinja-chinja kwejeni encoding TRP-I: ganda rakachena, irises chiedza chegirini-ruvara uye bvudzi rakatsvuka.

Dzimwe nzira dzisingawanzoitiki dzealbinism

Hermansky-Pudlak syndrome

Nekuchinja kwejini pachromosome gumi inokodha lysosome protein. Chirwere ichi chinobatanidza albinism ne coagulation disorders, pulmonary fibrosis, granulomatous colitis, renal kukundikana uye cardiomyopathy.

Chirwere cheChediak-Higashi

Nekuchinja kwejini pachromosome 1 inokodha puroteni inobatanidzwa mukutakurwa kwepigment. Chirwere ichi chinosanganisa kucheneswa kuri pakati nepakati, bvudzi rine simbi ye "silvery" grey kuratidza, uye njodzi yakawedzera ye lymphoma kubva mukuyaruka.

Griscelli-Pruniéras syndrome

Nekuchinja kwejini pane chromosome 15 encoding puroteni ichiita basa mukudzingwa kwepigment, inosanganisa kuderera kweganda, bvudzi resirivheri uye ganda rinogara richiitika, ENT uye hutachiona hwekufema pamwe nenjodzi yechirwere cheropa. zvinouraya.

Zvikonzero zvealbinism

Albinism a chirwere chenhaka nekuchinja kwejini encoding kugadzirwa kana kuendesa kweganda pigment nema melanocytes. Ganda uye matinji saka hazvina mukana wekuita pigmenting zvakanaka.

Nzira yekutapurirana kwekuchinja uku kubva kumubereki kuenda kumwana kazhinji kazhinji autosomal recessive, kureva kuti vabereki vese vanofanirwa kunge vari vatakuri vejini risingataurwe mavari uye kuti majini maviri aya (rimwe rababa, rimwe raamai) rinowanikwa. mumwana.

Tese tinotakura majini maviri, rimwe racho rine simba (rinotaura pacharo) uye rimwe recessive (risingaratidzi pacharo). Kana iyo recessive gene ine shanduko, saka haina kuratidzwa mumunhu ane gene rinotonga risingachinjiki. Kune rumwe rutivi, panguva yekuumbwa kwema gametes (spermatozoa muvarume uye ova muvakadzi), hafu yemagetes inogara nhaka mutated gene. Kana vanhu vaviri vakabata pamuviri pemwana uye vari vatakuri veiyo mutated recessive gene, ipapo pane njodzi yekuti mwana anenge abva mumbeu inotakura mutated recessive gene uye kubva muzai rine gene recessive gene. Sezvo mwana asina jena rinotonga asi maviri mutated recessive majini, anobva aratidza chirwere. Izvi zvingangove zvishoma, saka kazhinji hapana dzimwe nyaya dzealbinism mumhuri yese.

Ndiani anonyanya kubatwa?

Albinism inogona kukanganisa vagari veCaucasus asi inowanzoitika muAfrica paganda dema.

Evhangeri uye zvinetso zvinogoneka

Matambudziko makuru anokonzerwa nealbino ziso neganda. Iko hakuna mamwe matambudziko eropa kana enhengo kunze kweakanyanya kushomeka Hermansky-Pudlak, Chediak-Higashi uye Griscelli-Prunieras syndromes.

Ngozi yeganda

Chiedza chichena chinoumbwa nemavara akati wandei "akaungana", ayo "akaparadzana" semuenzaniso panguva yekuumbwa kwemuraraungu. Ruvara rwunobva pachinhu chine mamorekuru ekutora mavara ese echiedza kunze kweimwe chete, semuenzaniso bhuruu inotora zvese kunze kwebhuruu, iyo inoratidzwa paretina yedu. Dema mhedzisiro kubva mukutorwa kwemavara ese. Iyo dema pigment yeganda inoita kuti ikwanise kutora mavara echiedza asiwo uye kunyanya iyo Ultra Violets (UV) inokonzeresa njodzi yecarcinogenic paganda. Kusavapo kwepigment inokonzerwa nechirwere ichi kunoita kuti ganda revarwere rive “pachena” kumwaranzi yeUV nekuti hapana chinoitora uye inogona kupinda muganda ndokukuvadza masero arimo, zvichiita kuti pave nenjodzi yegomarara reganda.

Vana vanotambura nealbinism nokudaro vanofanira kudzivirira chero kusangana kweganda ravo nemwaranzi yeUV nekuronga mabasa avo (mumba kwete mitambo yekunze semuenzaniso), kupfeka zvekuvharisa nembatya dzekudzivirira uye zvigadzirwa zvezuva.

Njodzi yeziso

Varwere vane albinism havasi mapofu, asi kuona kwavo, pedyo uye kure, kunoderedzwa, dzimwe nguva zvakanyanya, zvinoda kupfekedzwa kwekugadzirisa lenses, kazhinji tinted kudzivirira maziso kubva kuzuva nokuti ivowo vanonyimwa pigment.

Kubva kukireshi, mwana ane albino ane dambudziko rekuona anoiswa pedyo nepamusoro pebhodhi uye, kana zvichibvira, anobatsirwa nemudzidzisi ane unyanzvi.