I kekahi manawa, e haʻi aku paha ke kauka iā ʻoe aia kahi loli liʻiliʻi i loko o kou mau genes, i kapa ʻia ʻo 'Robertsonian Translocation'. Makaʻu paha ʻoe ke lohe ʻoe i kēia mau ʻōlelo. He mea maʻamau ka noʻonoʻo ʻana i nā mea e like me, 'He maʻi koʻikoʻi anei kēia? He pilikia anei ia no kaʻu mau keiki?' Akā, mai makaʻu. He mea kēia i ʻike ʻole ʻia e ka poʻe he nui, akā he mea pono ke ʻike. He ʻano kakaikahi loa kēia, ʻo ia hoʻi, ma ka awelika, hoʻokahi wale nō i loko o 900 mau kānaka ke loaʻa iā ia. I kēia lā, e kamaʻilio mākou e pili ana iā ia ma ke ʻano maʻalahi loa, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.
I ka ʻōlelo maʻalahi, he aha nā genes a me nā chromosomes?
Ma mua o ko kākou hoʻomaopopo ʻana i kēia, e nānā kākou i ke ʻano o ka hana ʻia ʻana o ko kākou mau kino. E noʻonoʻo he hale waihona puke ko kākou mau kino me kahi papa puke nui. Aia i loko o kēlā me kēia puke ma kēia hale waihona puke nā kuhikuhi i hoʻokumu iā kākou.
ʻO kēia mau puke ka mea a mākou e kapa nei he chromosomes i ka lāʻau lapaʻau. ʻO kēia nā mea e mālama ai i kā mākou ʻike genetic āpau - ke ʻano o nā kuhikuhi e hoʻoholo ai i nā mea āpau mai ke kala o ko mākou lauoho, ke kala o nā maka, ke kiʻekiʻe, a me ke kala o ka ʻili.
ʻO ka maʻamau, he 46 mau chromosomes ko ke kanaka olakino. No kēia mau mea, loaʻa iā mākou he 23 mai ko mākou makuahine a ʻo ke koena he 23 mai ko mākou makuakāne.
No laila pehea lā e hana ʻia ai kēia hoʻololi ʻana o Robertsonian?
ʻO nā chromosomes 46 i loko o ko kākou kino, he ʻano kūikawā iki nā chromosomes 13, 14, 15, 21, a me 22. Ua kapa ʻia lākou he mau chromosomes acrocentric . Hoʻokahi 'lima' pōkole ko kēia mau chromosomes. ʻO ka mea nui loa, ʻaneʻane ʻaʻohe ʻike genetic o kēia lima pōkole e pono ai no ka hana ʻana o ko kākou kino.
I kēia manawa, ma ka Robertsonian Translocation, ʻo ka mea e hana ʻia ana, ʻo ia ka haki ʻana o nā lima pōkole o ʻelua o nā chromosomes acrocentric ʻelima aʻu i ʻōlelo ai ma mua, a pili pū nā lima lōʻihi o kēlā mau chromosomes ʻelua. Ua like ia me ka uhaki ʻana i ʻelua mau ʻāpana liʻiliʻi o nā lāʻau ʻelua a wehe iā lākou, a laila hoʻopili i nā ʻāpana nui ʻelua i koe. A laila ua nalowale kēlā mau lima liʻiliʻi pono ʻole ʻelua.
Ke hoʻohui ʻia nā chromosome ʻelua ma kēia ʻano, ʻo ka huina o nā chromosome o ke kanaka i kēia manawa he 45, ʻaʻole 46. Akā, ʻaʻole ia e loaʻa i nā pilikia olakino. No ka mea, ua nalowale kekahi mau ʻāpana liʻiliʻi ʻaʻohe o nā genes koʻikoʻi.
Aia kekahi mau ʻano o kēia?
ʻAe, hiki ke hoʻokaʻawale ʻia kēia kūlana i ʻelua ʻano nui. E maopopo maʻalahi iā ʻoe ke nānā ʻoe i kēia papa.
| ʻAno | Wehewehena |
|---|---|
| Hoʻololi Kaulike ʻia ʻo Robertsonian (Kaulike) | ʻAʻohe hōʻailona a pilikia olakino paha o ka poʻe me kēia maʻi. Ola lōʻihi lākou i ke ola olakino. ʻO ka hapa nui o ka manawa, ʻaʻole lākou i ʻike ua loaʻa iā lākou. Ua kapa ʻia kēia poʻe he 'mea lawe' no ka mea ʻaʻohe o lākou maʻi, akā hiki iā lākou ke hoʻoili iā ia i kā lākou mau keiki. |
| Ke Hoʻololi Kaulike ʻole ʻana o Robertsonian (Kaulike ʻole) | ʻO kēia kahi e hiki ai ke kū mai nā pilikia. ʻO kēia kahi e loaʻa ai i ka pēpē ka nui a i ʻole ka liʻiliʻi o nā mea hoʻoilina. ʻIke pinepine ʻia kēia ma hope o ka hānau ʻana o ka pēpē. I kekahi manawa, ʻoiai inā maʻamau nā chromosomes o nā mākua, hiki ke ulu ke ʻano i ka wā e ulu ana ka pēpē i loko o ka ʻōpū. He mea kākaʻikahi loa, ʻo kekahi o nā mākua he mea lawe a hiki i ka pēpē ke loaʻa i kēia ʻano. |
Pehea e hoʻoilina ai ke keiki i kēia maʻi?
Ke loaʻa i kahi mea lawe Robertsonian Translocation kahi keiki me kekahi kanaka ʻē aʻe, hiki ke hoʻoilina ʻia ke gene ma nā ʻano nui ʻekolu. E noʻonoʻo ʻoe ʻo ʻoe ka mea lawe.
1. He keiki olakino piha: Hiki i kāu keiki ke hoʻoilina i kahi hoʻonohonoho maʻamau o nā chromosomes mai iā ʻoe a me kāu hoa. A laila ʻaʻohe pilikia genetic o ke keiki. E olakino piha ia.
2. E lilo nō hoʻi ke keiki i mea lawe: Hiki i ke keiki, e like me ʻoe, ke hoʻoilina i ka chromosome i hoʻoili ʻia a me nā chromosome maʻamau. A laila, ʻaʻole e loaʻa i ke keiki kekahi pilikia olakino. Akā, e lilo nō hoʻi ʻo ia i mea lawe e like me ʻoe i ka wā e hiki mai ana.
3. Kūlana kaulike ʻole: ʻO kēia ka manawa e loaʻa ai i ka pēpē kahi nui a emi mai paha o nā mea hoʻoilina. No ka laʻana, loaʻa paha i ka pēpē kahi chromosome maʻamau me ka chromosome keu. Hiki i kēia ke kumu i ka pēpē e loaʻa ai kekahi mau kūlana hoʻoilina, e like me ka translocation Down syndrome a i ʻole Patau syndrome . Eia nō naʻe, ʻo ke ʻano a me ke koʻikoʻi o ke kūlana e pili ana i nā chromosome pololei i loaʻa.
Aia kekahi mau pilikia ʻē aʻe?
ʻO ka wahine me ka Robertsonian translocation hiki ke loaʻa i kahi pilikia o ka hāʻule ʻana ma mua o ka maʻamau. Eia kekahi, hiki i kekahi mau kāne me ke ʻano ke ʻike i ka emi ʻana o ka helu sperm a i ʻole ka emi ʻana o ka hiki ke hana i ka sperm.
Pehea e ʻike ai i kēia maʻi?
ʻAʻole ʻike ka nui o ka poʻe he mea lawe lākou. ʻIke wale lākou inā ua hāʻule pinepine lākou a inā paha ua hānau ʻia kahi pēpē me ke ʻano genetic. A laila e kauoha ke kauka i nā hoʻokolohua e ʻike ai.
He maʻalahi loa ka hoʻāʻo e ʻike ai i kēia. He hoʻāʻo koko maʻalahi ia. Lawe ʻia kahi koko liʻiliʻi mai ou aku a nānā ʻia nā chromosomes i loko o nā hunaola koko ma lalo o kahi microscope. Ua kapa ʻia kēia hoʻāʻo ʻo Karyotyping . A laila hiki ke ʻike maopopo ʻia inā loaʻa iā ʻoe nā chromosomes 46 a pau ma ke ʻano, a inā he hoʻokahi kāu i emi iho (45), a inā paha he mau chromosomes i hoʻopaʻa pū ʻia.
Inā ʻike ʻoe aia kekahi o kou ʻohana i loaʻa i kēia maʻi genetic, hiki i kāu kauka ke ʻōlelo aku iā ʻoe a me kāu hoa e hana i kēia hoʻāʻo ma mua o ka hoʻāʻo ʻana e loaʻa kahi keiki.
He mea maʻamau ke makaʻu a me ka hopohopo ke lohe ʻoe e pili ana i kēia maʻi. Akā, ʻo ka mea nui loa, ʻo ia ka loaʻa ʻana o ka ʻike kūpono a me ka ʻimi ʻana i ke aʻo lapaʻau e pono ai.
Leka Lawe-Home
- ʻAʻole he maʻi e makaʻu ai ʻo Robertsonian Translocation. ʻO ka hapa nui o ka poʻe me ia (nā mea lawe) ua olakino maikaʻi lākou a ke ola nei i nā ola maʻamau.
- ʻO ka hopena nui o kēia, ʻo ia ka pilikia o ka hoʻoili ʻana i ka gene i kahi keiki. Eia nō naʻe, ʻoiai inā he mea lawe ʻoe, loaʻa nō iā ʻoe kahi manawa kūpono e loaʻa ai nā keiki olakino.
- Inā he mau hāʻule keiki mau kāu, pilikia i ka hāpai ʻana, a i ʻole he moʻolelo ʻohana o nā maʻi genetic, he mea naʻauao ke kamaʻilio me kāu kauka e pili ana i ka loaʻa ʻana o kahi hoʻokolohua e like me ka karyotyping.
- Inā he mau nīnau hou aku kāu e pili ana i kēia, mai kānalua e nīnau i kāu kauka . E hāʻawi ʻo ia iā ʻoe i ka ʻike āpau, nā ʻōlelo aʻoaʻo, a me nā kuhikuhi no ke aʻo ʻana i nā ʻano maʻi inā pono.











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