ʻO ka Oculocutaneous albinism kahi hui o nā maʻi hoʻoilina i hōʻike ʻia e ka depigmentation o ka ʻili, ka lauoho a me nā maka. ʻO ka ʻoiaʻiʻo, ʻo ka loaʻa ʻana o ka puaʻa melanin i ka iris a me ka retina ʻo ia ka mea e hele mau ʻia ka albinism me ke komo ʻana o ka ophthalmological.

Albinism, he aha ia?

Ka wehewehe ʻana o ka albinism

ʻO ka Oculocutaneous albinism ma muli o kahi kīnā i ka hana ʻana o ka puaʻa melanin e nā melanocytes, ma muli o ka hoʻololi ʻana.

ʻO nā ʻano like ʻole o ka albinism:

ʻAno Albinism 1

Loaʻa lākou mai nā hoʻololi ʻana i ka gene no ka enzyme tyrosinase e hana nui i ka hana ʻana o ka puaʻa e nā melanocytes.

Albinism ʻano 1A

Aia kahi hoʻopau holoʻokoʻa o ka hana enzyme tyrosinase. No laila, ʻaʻohe puaʻa o ka poʻe maʻi i ka ʻili, ka lauoho a me nā maka mai ka hānau ʻana mai, e hoʻokeʻokeʻo ai i ka lauoho keʻokeʻo me nā maka ʻulaʻula (ʻo ke kīnā puaʻa i ka iris ke ʻike ʻia ka ʻulaʻula ma o ka retina)

Albinism ʻano 1B

ʻOi aku ka liʻiliʻi a i ʻole ka emi ʻana o ka hana tyrosinase. ʻAʻohe puaʻa o ka poʻe maʻi i ka ʻili a me nā maka i ka wā hānau, e hoʻokeʻokeʻo iā lākou me nā maka ʻulaʻula, akā mai nā mahina mua o ke ola e ʻike ʻia nā hōʻailona o ka hana puaʻa o nā ʻano like ʻole ma ka ʻili a me ka iris. (ʻokoʻa mai ka uliuli a ka ʻalani-melemele). Ke kamaʻilio nei mākou no ka mutant melemele a i ʻole ka melemele albinism.

ʻAno Albinism 2

ʻO ia ka mea maʻamau o nā albinism, ʻoi loa ma ʻApelika. ʻO ka gene kuleana ka gene P o ka chromosome 15 e pāʻani ana i ka lawe ʻana i ka tyrosine.

I ka hānau ʻana, he keʻokeʻo ka ʻili o nā keiki ʻeleʻele akā poni ka lauoho. Ke ulu aʻe ka lauoho, lilo ia i kala mauʻu a loaʻa paha i ka ʻili nā freckles, ʻeleʻele a i ʻole nā ​​mole. ʻO nā irises he uliuli a melemele paha i ka ʻeleʻele māmā.

ʻAno Albinism 3

He mea kakaʻikahi a aia wale nō ma ka ʻili ʻeleʻele. Hoʻopili ʻia ia me ka hoʻololi ʻana i ka gene encoding TRP-I: keʻokeʻo ka ʻili, ʻulaʻula ka ʻili o ka ʻōmaʻomaʻo a me ka lauoho ʻulaʻula.

ʻO nā ʻano like ʻole o ka albinism

ʻO ka maʻi Hermansky-Pudlak

Ma ka hoʻololi ʻana o kahi gene ma ka chromosome 10 e hoʻopili ana i kahi protein lysosome. Hoʻopili kēia maʻi i ka albinism me nā maʻi coagulation, pulmonary fibrosis, granulomatous colitis, renal failure and cardiomyopathy.

ʻO Syndrome de Chediak-Higashi

Ma ka hoʻololi ʻana o kahi gene ma ka chromosome 1 e hoʻopili ana i kahi protein i komo i ka lawe ʻana i ka puaʻa. Hoʻopili kēia maʻi i ka depigmentation haʻahaʻa, ka lauoho me ka metala hina "kālā" a me ka piʻi nui ʻana o ka lymphoma mai ka wā ʻōpio.

ʻO ka maʻi Griscelli-Pruniéras

Ma ka hoʻololi ʻana o kahi gene ma ka chromosome 15 e hoʻopili ana i kahi protein e pāʻani ana i ke kipaku ʻana i ka puaʻa, pili ia i ka depigmentation ʻili haʻahaʻa, ka lauoho kālā a me ka ʻili pinepine, nā maʻi ENT a me ka hanu a me ka pilikia o ka maʻi koko. mea make.

Nā kumu o ka albinism

ʻO Albinism kahi maʻi hoʻoilina ma ka hoʻololi ʻana o kahi gene e hoʻopili ana i ka hana ʻana a i ʻole ka lawe ʻana i ka puaʻa ʻili e nā melanocytes. No laila ʻaʻole hiki i ka ʻili a me nā integument ke hoʻomaʻamaʻa pono.

ʻO ke ʻano o ka hoʻoili ʻana o kēia hoʻololi ʻana mai ka makua i ke keiki ma ka hapa nui o nā hihia autosomal recessive, ʻo ia hoʻi, pono nā mākua ʻelua e lawe i kahi gene i hōʻike ʻole ʻia i loko o lākou a ʻike ʻia kēia mau genes ʻelua (hoʻokahi makua kāne, ʻo kekahi makuahine) i ke keiki.

Lawe mākou a pau i ʻelua genes, ʻo kekahi o ia ka mana (e hōʻike ana iā ia iho) a ʻo kekahi recessive (ʻaʻole hōʻike iā ia iho). Inā he mutation ka gene recessive, no laila, ʻaʻole ia i hōʻike ʻia i ke kanaka me ka gene mana i hoʻololi ʻole ʻia. Ma ka ʻaoʻao ʻē aʻe, i ka wā o ka hoʻokumu ʻana o nā gametes (spermatozoa i nā kāne a me nā ova i nā wahine), ʻo ka hapalua o nā gametes e hoʻoili i ka gene mutated. Inā hāpai nā kānaka ʻelua i ke keiki a he mau mea lawe lākou i ka gene recessive mutated, a laila aia ka pilikia e puka mai ke keiki mai kahi sperm e lawe ana i ka gene recessive mutated a mai kahi hua manu e lawe ana i ka gene recessive like. No ka mea, ʻaʻohe gene mana o ke keiki akā ʻelua mau genes recessive mutated, a laila hōʻike ʻo ia i ka maʻi. He haʻahaʻa loa kēia kūpono, no laila, ʻaʻohe hihia ʻē aʻe o ka albinism ma ke koena o ka ʻohana.

ʻO wai ka mea i hoʻopilikia loa ʻia?

Hiki i ka Albinism ke hoʻopilikia i ka heluna kanaka Caucasian akā ʻoi aku ka maʻamau ma ʻApelika ma ka ʻili ʻeleʻele.

Evolution a me nā pilikia i hiki

ʻO nā pilikia nui i hoʻokumu ʻia e ka albinism ʻo ka maka a me ka ʻili. ʻAʻohe pilikia ʻē aʻe o ke koko a i ʻole ke kino koe wale nō ma nā maʻi maʻi Hermansky-Pudlak, Chediak-Higashi a me Griscelli-Prunieras.

Pilikia ili

Hoʻokumu ʻia ke kukui keʻokeʻo i kekahi mau kala "hui ʻia", i "hoʻokaʻawale" no ka laʻana i ka wā o ka hoʻokumu ʻana o ke ānuenue. Loaʻa ka waihoʻoluʻu mai ka waiwai i loaʻa i nā molekala no ka hoʻomoʻa ʻana i nā waihoʻoluʻu a pau o ka mālamalama koe hoʻokahi wale nō, no ka laʻana, komo ka uliuli i nā mea āpau koe wale ka uliuli, i ʻike ʻia ma ko mākou retina. Loaʻa ka ʻeleʻele mai ka hoʻomoʻa ʻana o nā kala āpau. ʻO ka puaʻa ʻeleʻele o ka ʻili e hiki ai ke komo i nā waihoʻoluʻu o ka mālamalama akā ʻo ia hoʻi ka Ultra Violets (UV) e hoʻopilikia ai i ka maʻi carcinogenic no ka ʻili. ʻO ka loaʻa ʻole o ka puaʻa i loaʻa mai ka maʻi e "mākaʻaka" ka ʻili o nā maʻi i nā kukuna UV no ka mea ʻaʻohe mea e komo iā lākou a hiki iā lākou ke komo i loko o ka ʻili a hoʻopōʻino i nā sela ma laila, e hoʻopilikia ai i ka maʻi kanesa ʻili.

No laila, pono nā keiki e loa'a ana i ka albinism e pale i ka ho'opili 'ana i ko lākou 'ili me nā kukuna UV ma o ka ho'onohonoho 'ana i kā lākou mau hana (i loko o waho ma mua o ka ha'uki waho, no ka la'ana), ke komo 'ana i ka uhi a me ka lole pale a me nā huahana lā.

pilikia maka

ʻAʻole makapō ka poʻe maʻi me ka albinism, akā ʻo ko lākou ʻike maka, kokoke a mamao, ua hoʻemi ʻia, i kekahi manawa koʻikoʻi, e koi ana i ke komo ʻana i nā lens hoʻoponopono, ʻoi aku ka nui o ka tinted e pale i nā maka mai ka lā no ka mea ua nele lākou i ka puaʻa.

Mai ke kula kindergarten, ua hoʻokomo ʻia ke keiki albino e loaʻa ana i ka hemahema ʻike i kahi kokoke i ka papa a, inā hiki, ke kōkua ʻia e kahi kumu hoʻonaʻauao kūikawā.