Ua ʻike mākou ua hana ʻia ko mākou kino me nā triliona o nā cell. Manaʻo pinepine mākou he like ka ʻikepili genetic o kēlā me kēia o kēia mau cell, e like me nā kope he nui o ka blueprint like. Akā i kekahi manawa hiki ke ʻokoʻa iki kēia. E noʻonoʻo i kekahi mau cell i loko o kou kino i ka blueprint genetic like, a he ʻokoʻa iki ka blueprint genetic o kekahi mau cell. ʻO ia ka mea a mākou e kapa nei he mosaicism i ka lāʻau lapaʻau.
I ka ʻōlelo maʻalahi, he aha ka Mosaicism?
I ka ʻōlelo maʻalahi, ʻo Mosaicism ka loaʻa ʻana o ʻelua a ʻoi aku paha mau hui o nā cell like ʻole i loko o ke kino o ke kanaka hoʻokahi. Ua like kēia me ke kiʻi mosaic. E like me nā tile liʻiliʻi o nā kala a me nā ʻano like ʻole e hui pū e hana i kahi kiʻi nani, ʻo ka mea e hana ʻia ma ʻaneʻi, ʻo ia ka hui pū ʻana o nā cell me nā ʻano genetic like ʻole e hana i hoʻokahi kino.
ʻO kahi laʻana maikaʻi o kēia ka ʻokoʻa o ka helu o nā chromosomes. He 46 chromosomes ko ke kanaka olakino i loko o kēlā me kēia cell. Eia nō naʻe, i loko o ke kanaka me ka mosaicism, he 46 chromosomes ko kekahi mau cell, aʻo kekahi hui o nā cell he helu ʻokoʻa paha, e like me 47 a 45 chromosomes. Hiki i kēia ʻokoʻa genetic ke hana i kekahi mau pilikia olakino i ka wā hānau, a i kekahi manawa he mau pilikia ma hope o ke ola.
He aha nā maʻi e hiki ke pili me ka mosaicism?
Hiki i ka mosaicism ke hoʻoulu i nā ʻano maʻi like ʻole. Akā, ʻokoʻa loa nā hopena o kēia mai ke kanaka a ke kanaka. Aia ia i ka pakeneka o nā cell ʻano ʻē i loko o ke kino a me nā ʻōkana i loaʻa ai kēlā mau cell. E nānā kākou i kekahi o nā maʻi nui e pili ana i kēia.
| Kūlana | Ka hopena a me nā hiʻohiʻona maʻamau |
|---|---|
| ʻO ka maʻi Down Mosaic | He ʻano kēia o ka Down syndrome. Hiki iā ia ke hana i ke kīnā noʻonoʻo, nāwaliwali o nā ʻiʻo, a me ka helehelena pālahalaha. Loaʻa paha i kekahi mau keiki ka maʻi puʻuwai, nā pilikia ʻōpū, a me nā pilikia thyroid. |
| ʻO Pallister-Killan mosaic syndrome | ʻOiai i loko o kēia kūlana, ʻike ʻia ka nāwaliwali o nā ʻiʻo, ka lohi o ka noʻonoʻo, ka lahilahi o ka lauoho, ka ʻano ʻili ʻē, a me nā kīnā hānau ʻē aʻe. |
| ʻO ka maʻi anophthalmia SOX2 | He kūlana laha ʻole kēia e hiki ai ke hoʻoulu i nā pilikia koʻikoʻi e like me ka hānau ʻana o ka pēpē me ka ʻole o nā maka, nā maʻi ʻūlū, nā pilikia ulu o ka lolo, a me ka lohi o ka ulu ʻana o ke kino. |
| Trisomy 18 (Mosaic) | He kūlana kēia kahi e kūpilikiʻi ai ka ulu ʻana o ka pēpē i loko o ka ʻōpū. Hiki ke hānau ʻia ke pēpē me ke poʻo liʻiliʻi ma mua o ka maʻamau, nā kīnā puʻuwai, a me nā kīnā ʻē aʻe o ke kino. ʻO ka mea pōʻino, nui nā pēpē me kēia kūlana ʻaʻole ola ma mua o ko lākou makahiki mua. |
Eia kekahi, hiki ke pili ka mosaicism me nā ʻano maʻi chromosomal ʻē aʻe, e like me ka Turner syndrome, a me kekahi mau ʻano maʻi kanesa, ʻoiai nā maʻi kanesa koko.
No ke aha lā e kū mai ai kēia kūlana?
Hana maoli kēia i ka hapa nui o ka manawa ma ke ʻano ulia. ʻAʻole kēia ma muli o ka hewa o kekahi. E noʻonoʻo, ma hope o ka hoʻoulu ʻia ʻana o ka hua o ka makuahine e ka sperm o ka makuakāne, hoʻomaka ka cell mua (zygote) i hana ʻia e māhele. Ma kēia ʻano, i ka māhele ʻana o kekahi cell i ʻelua, ʻelua, ʻehā, ʻehā, ʻewalu, a pēlā aku, ulu ka embryo.
I loko o kēia mahele ʻana o ke kelepona, pono i kēlā me kēia kelepona hou ke loaʻa i kahi kope pololei o nā chromosomes o ke kelepona mua. Akā , he mea kākaʻikahi loa, hiki ke loaʻa kahi hewa i kēia kaʻina hana kope. Hiki i ka hewa ke hana i ka kelepona hou e loaʻa i kahi helu ʻokoʻa o nā chromosomes. Ke hoʻomau ka mahele ʻana o ke kelepona hemahema, hana ke kino i kahi hanauna o nā kelepona me kahi ʻano hoʻoilina ʻē. Hoʻomau pū nā kelepona olakino mua i ka mahele ʻana, no laila i ka hopena, loaʻa i ke kino ʻelua mau seti o nā kelepona.
- ʻO ka mosaicism kiʻekiʻe: Inā loaʻa kēia kīnā i ka wā mua loa o ka ulu ʻana o ka embryonic, ua pālahalaha kahi pakeneka nui (50% a ʻoi aku paha) o nā cell maʻamau ʻole i loko o ke kino.
- Mosaicism pae haʻahaʻa: Inā loaʻa ka hemahema i kahi pae hope o ka hoʻomohala ʻana, he liʻiliʻi ka helu o nā cell i hoʻopilikia ʻia.
Aia kekahi mau ʻano nui o ka mosaicism?
ʻAe, hiki ke hoʻokaʻawale ʻia ka Mosaicism i kekahi mau ʻano nui. ʻO ka hoʻomaopopo ʻana i kēia e hiki ke kōkua iā ʻoe e loaʻa kahi ʻike maikaʻi aʻe i ke ʻano o ke kūlana.
| Hoʻokaʻawale ʻana | He wehewehe maʻalahi |
|---|---|
| Ma muli o ke ʻano o ke kelepona i hoʻopilikia ʻia | |
| ʻO ka Mosaicism Somatic | Maanei, aia wale nō ka loli genetic i loko o nā cell maʻamau o ke kino (nā cell somatic). ʻO ia hoʻi, nā cell i loko o nā ʻōpū e like me ka ʻili, ka lolo, a me ka puʻuwai. ʻO ka mea nui, ʻaʻole kēia kūlana e hoʻopilikia i nā cell hānau (nā hua manu a me ka sperm), no laila ʻaʻole ia i hoʻoilina ʻia mai nā mākua a i nā keiki. |
| ʻO ka Mosaicism Germline | Aia wale nō ka loli genetic i loko o nā cell germline, ʻo ia hoʻi, i loko o nā hua manu a i ʻole ka sperm. No laila, ʻoiai inā ʻaʻohe hōʻailona o nā mākua, ua pilikia kā lākou mau keiki i ka hoʻoilina ʻana i kēia maʻi genetic. |
| Wahi a ke ʻano o ka laha ʻana ma ke kino | |
| ʻO ka Mosaicism Laulā | Maanei, aia nā pūnaewele ʻē ma ke kino holoʻokoʻa o ke keiki. |
| Mosaicism i hoʻopaʻa ʻia | Maanei, ʻaʻole i loaʻa nā ʻāpana ʻē ma ke kino holoʻokoʻa, akā ua kaupalena ʻia i kahi ʻāpana a i ʻole ʻiʻo kikoʻī, e like me ka lolo, ka puʻuwai, a i ʻole ke akepaʻa. No ka laʻana, aia kahi kūlana i kapa ʻia ʻo Confined Placental Mosaicism, i kaupalena ʻia i ka placenta. |
Pehea e ʻike ai nā kauka i kēia maʻi?
Pono ka hoʻāʻo genetic kūikawā e ʻike ai i ka mosaicism.
- ʻIke Prenatal: Inā he kānalua he Mosaicism ka pēpē i ka wā hāpai, hiki i nā kauka ke ʻōlelo i nā hoʻokolohua kūikawā. ʻO Amniocentesis (e hoʻāʻo ana i ka wai amniotic e hoʻopuni ana i ka pēpē) a meʻO Chorionic Villus Sampling (CVS) (ke nānā ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo mai ka placenta) kekahi o ia ʻano hoʻokolohua.
- Hoʻāʻo Postnatal: Ma hope o ka hānau ʻana o ka pēpē, hiki ke ʻike ʻia ke kūlana ma o nā hoʻāʻo koko, ka biopsy ʻili, a me nā mea ʻē aʻe. I kekahi manawa, pono paha e hoʻāʻo i ʻelua ʻano ʻiʻo like ʻole e hōʻoia i ke kūlana pololei.
ʻOi loa aku ma nā ʻano hana e like me ka in-vitro fertilization (IVF), hiki ke hoʻāʻo no nā kīnā genetic ma o kahi hoʻāʻo i kapa ʻia ʻo Preimplantation Genetic Screening (PGS) ma mua o ke kanu ʻia ʻana o ka embryo i loko o ka ʻōpū o ka makuahine.
Aia kekahi lāʻau lapaʻau no ka mosaicism?
He pilikia kēia i loaʻa i nā kānaka he nui. ʻO ka ʻoiaʻiʻo, ʻaʻohe ala e hoʻohuli ai a hoʻōla paha i ke kūlana genetic i kapa ʻia ʻo Mosaicism. ʻO ia hoʻi, ʻaʻole hiki ke hoʻopau i nā cell maʻamau ʻole a hoʻololi iā lākou me nā cell maʻamau.
Akā, ʻo ka mea nui loa, aia nā ʻano like ʻole e hoʻokele a mālama ai i nā pilikia olakino a me nā hōʻailona i hoʻokumu ʻia e ka Mosaicism.
Aia nā koho lapaʻau i ke kūlana e pili ana i kēlā me kēia kanaka. No ka laʻana, hiki i kahi keiki me Mosaic Down syndrome ke pōmaikaʻi mai ka hoʻōla ʻōlelo a me ka physiotherapy e kōkua iā lākou e hoʻomohala a hoʻomaikaʻi i ko lākou mau hiki. Inā he maʻi puʻuwai, hāʻawi ʻia ka lāʻau lapaʻau e hoʻoponopono i ke kumu kumu. ʻO ke ʻano kēia , ʻaʻole i kuhikuhi ʻia ka lāʻau lapaʻau i ka Mosaicism, akā i nā hopena o ke kūlana. He mea nui e kamaʻilio me kāu kauka e pili ana i ka hoʻolālā lapaʻau maikaʻi loa nou a i ʻole kāu keiki.
Pehea lā ka wā e hiki mai ana me kēia kūlana?
He mea paʻakikī ke wānana i ka wānana o kekahi me ka mosaicism, no ka mea, hilinaʻi ia i nā kumu he nui. ʻO nā mea nui:
- He aha ka pakeneka o nā pūnaewele ʻē? (Pakeneka o nā pūnaewele ʻē)
- ʻO wai nā ʻōpū/ʻiʻo i hoʻopilikia ʻia?
- Ka nui o ke kūlana pili.
ʻO ke kanaka me ka pakeneka haʻahaʻa loa o nā cell abnormal (low-level mosaicism) hiki ke ola i kahi ola olakino piha me ka ʻole o nā hōʻailona. Hiki i kekahi kanaka ke loaʻa nā pilikia liʻiliʻi. Inā kiʻekiʻe ka pakeneka o nā cell abnormal a ua hoʻopilikia ʻia nā ʻōpū nui e like me ka lolo a me ka puʻuwai, hiki ke hoʻonui ʻia nā pilikia.
No laila, ma kahi o ka makaʻu pono ʻole e pili ana i kēia, he mea nui loa ia e ʻike i kahi loea, e loaʻa i ke aʻo ʻana i nā ʻano genetic , a loaʻa kahi ʻike maopopo i ke kūlana kikoʻī o kāu keiki.
Leka Lawe-Home
- ʻO ka mosaicism ka loaʻa ʻana o nā hui pūnaewele he nui ma mua o hoʻokahi i loko o ke kino o ke kanaka hoʻokahi.
- ʻAʻole kēia he hewa o kekahi, akā, he hewa kaulele ia e kū mai ana i ka wā o ka mahele ʻana o ke kelepona i nā pae mua o ka ulu ʻana o ka embryonic.
- ʻOkoʻa loa nā hopena o ka mosaicism mai kēlā kanaka a kēia kanaka. ʻAʻole paha e hoʻopilikia ʻia kekahi, aʻo kekahi e loaʻa paha nā pilikia olakino koʻikoʻi.
- ʻOiai ʻaʻohe lāʻau lapaʻau no kēia maʻi, aia nā lāʻau lapaʻau kūpono loa e hoʻokele i nā hōʻailona a me nā pilikia olakino e loaʻa mai ana.
- Inā he kānalua a nīnau paha kāu a i ʻole kekahi o kou ʻohana e pili ana i ka Mosaicism, ʻo ka mea maikaʻi loa e hana ai, ʻo ia ke kūkākūkā ākea me kāu kauka .
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