He hoʻololi ʻano ʻē o nā genes - ʻo kēia ke ʻano o ka translocation! (Genetic Translocation)

Loaʻa iā kākou āpau ko kākou ʻike hoʻoilina i mālama ʻia i loko o nā pūnaewele o ko kākou kino. Ua like ia me nā puke i loko o kahi hale waihona puke nui. Kāhea mākou i kēia mau puke he mau chromosome. Ulu mākou me ka hapalua mai ko mākou makuahine a me ka hapalua mai ko mākou makuakāne. Akā e noʻonoʻo, i kekahi manawa ua haehae ʻia ʻelua ʻaoʻao o kēia mau puke, a ua paʻa kahi ʻaoʻao mai kekahi puke i kekahi, a ua paʻa kahi ʻaoʻao mai kekahi puke i kēia puke. Pēlā mākou e kapa ai i ka translocation i ka lāʻau lapaʻau ke haki nā ʻāpana o ʻelua chromosome a hoʻololi kekahi i kekahi. Mai makaʻu ke lohe ʻoe i kēia inoa. Hiki i nā poʻe he nui ke loaʻa kēia, a ʻaʻole paha lākou i ʻike. E nānā kākou i ke ʻano maoli.

He aha kēia hoʻololi hoʻoilina i kapa ʻia ʻo Translocation?

I ka ʻōlelo maʻalahi, ʻo ka translocation kahi hoʻololi i ke ʻano o nā chromosomes. Hana ʻia kēia i ka wā e haki ai kahi ʻāpana o kekahi chromosome a hoʻopili i kahi chromosome ʻē aʻe. I kekahi manawa, hiki i ka ʻāpana haki o ka chromosome ʻelua ke hoʻopili i ka mua.

I loko o ka nucleus o kēlā me kēia o kā mākou mau cell, aia he 23 mau pālua o nā chromosomes. ʻO ia ka huina o 46 mau chromosomes. Ma waena o kēia mau mea, 22 mau pālua e kāohi i nā ʻano ʻē aʻe o ke kino (autosomes), ʻoiai ʻo ka pālua hope loa e hoʻoholo i ko mākou kāne (X a me Y chromosomes).

Hiki ke hoʻokaʻawale ʻia ka translocation i ʻelua mau ʻano nui:

1. Hoʻololi Pānaʻi: ʻO kēia ka manawa e hoʻololi ʻia ai nā ʻāpana o ʻelua mau chromosome like ʻole. E noʻonoʻo i kahi ʻāpana o ka chromosome 7 e hoʻoili ʻia ana i ka chromosome 21, a me kahi ʻāpana o ka chromosome 21 e hoʻoili ʻia ana i ka chromosome 7.

2. Robertsonian Translocation: ʻO kēia ka manawa e hoʻopili piha ai kekahi chromosome i kekahi chromosome ʻē aʻe.

I kēia manawa, aia kekahi mea nui ʻē aʻe. Inā hoʻololi ʻia kēia mau ʻāpana, akā ʻaʻohe ʻikepili genetic i nalowale a loaʻa paha, kapa mākou ia he Balanced Translocation . ʻO ka mea me kēia, ʻaʻohe ona pilikia olakino. Eia nō naʻe, inā nalowale a loaʻa paha kekahi ʻikepili genetic ma muli o kēia hoʻololi, kapa mākou ia he Unbalanced Translocation . ʻO ia ka manawa e hoʻomaka ai nā pilikia olakino like ʻole e kū mai.

He translocation wale nō paha? Nā loli ʻē aʻe e hiki ke hana ma nā chromosomes

Ma waho aʻe o ka translocation, aia kekahi mau loli ʻē aʻe e hiki ke hana i ke ʻano o nā chromosomes. Hiki i kēia mau mea ke hoʻopilikia i ke kaʻina hana protein i loko o ko mākou kino a hoʻopilikia i ka hana o nā cell a me nā ʻiʻo. E nānā kākou i ke ʻano o lākou.

I ka manawa hea he mea nui kēia hoʻololi ʻana?

He miliona mau pūnaewele i loko o ko kākou kino. Inā hoʻokahi wale nō o kēia mau pūnaewele e loli nei, ʻaʻole ia e nui ka hopena. E make paha kēlā pūnaewele ma hope o kekahi manawa.

E noʻonoʻo, a laila māhelehele kēlā pūnaewele hoʻokahi a māhelehele e hana i keiki piha. ʻO ia hoʻi, loaʻa i kēlā me kēia pūnaewele i loko o ke kino o ke keiki kēlā neʻe ʻana. ʻO ia ka manawa e kū mai ai nā maʻi like ʻole ma muli o ka hoʻonui ʻia a i ʻole ka emi ʻana o ka ʻike genetic.

I kekahi manawa hana ʻia kēia loli ma hope o ka hāpai ʻia ʻana o ke pēpē. A laila hiki i kekahi mau cell i ke kino ke maʻamau a hiki i kekahi mau cell ke loaʻa ka translocation. Kāhea mākou i kēia ʻo Mosaicism .

E nānā kākou i kahi laʻana maoli.

I mea e hoʻomaopopo maikaʻi ai i kēia, e lawe kākou i kahi laʻana. E noʻonoʻo he kanaka, e kapa kākou iā ia ʻo Sunil. ʻAʻohe maʻi o Sunil, ua olakino ʻo ia. Akā inā e nānā kākou i kāna mau genes, loaʻa iā ia kahi translocation kaulike ma waena o kāna chromosomes 7 a me 21. ʻO ia hoʻi, ua hoʻololi ʻia nā ʻāpana, akā loaʻa iā ia nā ʻike genetic āpau e pono ai i loko o kona kino. No laila, ʻaʻohe ona pilikia.

Hiki mai ka pilikia ke hana ʻia ke keiki. Ke hana ʻia ka sperm i loko o ke kino o Sunil, hoʻokaʻawale nā ​​​​hui chromosome. Maanei, minamina, hiki i kekahi sperm ke lawe i ka chromosome 7 me ka ʻāpana o ka 21 i hoʻopili ʻia ma kahi o ka chromosome 7 maʻamau. I ka manawa like, hiki i ka chromosome 21 maʻamau ke hele i kēlā sperm.

I kēia manawa, he aha ka mea e hana ai inā hui pū kēia sperm me kahi hua manu olakino a hānau ʻia ke keiki? Loaʻa i ka makuahine hoʻokahi chromosome 21. Loaʻa i ka makuakāne (Sunil) ka chromosome 21 maʻamau a me ka ʻāpana o ka chromosome 21 i hoʻopili ʻia i ka chromosome 7. A laila, loaʻa i nā cell o ke keiki ʻekolu ʻāpana ʻike genetic e pili ana i ka chromosome 21. ʻO ia ka mea a mākou e kapa nei he Down syndrome .

I kēia manawa, ua maopopo iā ʻoe pehea e hiki ai i kekahi me kahi translocation kaulike ke hānau keiki me kahi translocation kaulike ʻole, ʻoiai inā ʻaʻohe o lākou hōʻailona?

Nā maʻi e hiki ke hana ʻia e ka translocation

Aia kekahi mau pilikia olakino nui i hiki ke hana ʻia e ka translocation.