Ua loaʻa i nā kināpopo keʻano o kaʻikepili ma keʻano o ka genes. ʻO ka nucleus o kēlā me kēia pūnaewele kanaka, koe keʻokoʻa a me ka sperm, aia i loko o 46 mau chromosomes, me 23 mau pai. Hoʻokahi ka chromosoma ma kēlā me kēia maʻamau i laweʻia mai ka makuahine, aʻo kekahi ma ka makua. Ma nā wāhineʻelua, he 22 o ka 23 pai o nā chromosomes hoʻokahi, hoʻokahi wale nō nā male chromosomes i koe. Loaʻa i nā wāhineʻelua X-chromosomes (XX), a ma loko o kānaka he hoʻokahi X- a hoʻokahi Y-chromosome (XY). No laila,ʻo ka hoʻonohonoho maʻamau o nā chromosomes (karyotype) o ke kāne he 46, XY, aʻo ka wahine - 46, XX.
Nā mea hōʻeuʻeuʻole Chromosomal
Ināʻikeʻia ka hapa ma kahiʻanoʻano o ka mahele pūnaewele, kahi i hoʻohuiʻia ai ka'ōcytes a me ka spermatozoa, a laila e puka mai nā pūliki kinoʻole, e hiki ai i ka hānauʻana o nā keiki me nā maʻi maʻi chromosomal. ʻO kaʻikeʻole o ka chromosomal hiki ke helu a me ka hoʻohālike.
Ka hoʻomohalaʻana i kahi wahine
Ma lalo o nāʻano maʻamau, hiki ke heleʻana o ka Y-chromosome i ka hoʻouluʻana o ke kāne hānai, me kaʻole o ka helu o X-chromosomes, a me kaʻole o ka Y-chromosome - i ka hoʻomohalaʻana i ke kaikamahine. ʻO ka'ānalua o ke kino chromosomes he mea hoʻohaʻahaʻa ka hopena o nāʻano o ke kanaka (phenotype) ma mua o nā anomalies o nā autosomal. ʻO ka'ōmoku Y-chromosome kahi hapa liʻiliʻi o nāʻanoʻano, no laila, he hapa iki kona mau kope. Loaʻa i nā kāne a me nā wahine ke komo i kahi mea hoʻokahi wale no X chromosome. ʻO nā kūkini X-chromosomes aʻoi loa aku i ka pauʻole. Ke hoʻemi nei kēiaʻano i ka hopena o nā X-chromosomes, no ka mea,ʻaʻohe pono i ka kope o nā kope kūponoʻole, waiho waleʻia kahi "X" chromosome maʻamau. Eia nō naʻe, aia kekahi mau genes ma ka X chromosome eʻalo i ka hanaʻole. Manaʻoʻiaʻo ka hikiʻana o hoʻokahi aʻoi aku pahaʻelua kope o ia mauʻano he kumu ia o nā mea hoʻohālike'ē aʻe e pili ana me ka nele o ke kino chromosomes. I loko o ka weheweheʻana, e hoʻokōʻia ana ka hoʻopuka kalapili ma lalo o kahi microscope māmā i ka 1000fold magnification. Hiki keʻikeʻia nā chromosoma i ka wā i māheleʻia ai ka pūpū iʻelua pūnaewele kaikamahine. No ka loaʻaʻana o nā chromosomes, hoʻohanaʻia nā pūpili o ke koko e kanuʻia i kahi ala kūikawā nui i nā meaʻai. I kekahi manawa o ka mahele, ua mālamaʻia nā pūnaewele me kahi haʻina e hoʻonā ai lākou, a me ka "wehewehe" a me ka hoʻokaʻawaleʻana i nā chromosomes. Hoʻonohoʻia nā pūnaewele i kahi microscope slide. Ke maloʻo nei lākou, e kahā ke kino o ke kele me ka hoʻokuʻuʻiaʻana o nā chromosoma i loko o ke kaiaulu o waho. Hanaʻia nā kinona o nā kināpika ma keʻano iʻikeʻia ai kēlā me kēia mea he hakahaka a heʻeleʻeleʻeleʻele (nā liʻiliʻi), aʻo ke kiko o ia mea he kiko'ī no kēlā me kēia. ʻO keʻano o nā chromosomes a me keʻano o nā diski e noʻonoʻo ponoʻia i mea eʻike ai i kēlā me kēlā me kēia chromosome a hoʻomaopopo i ka hopena. Hoʻopaʻaʻia keʻano o nā mea anomalies inā he hemahema aʻoi aku paha nā chromosomes. ʻO kekahi mau maʻi maʻi e ulu ana ma muli o ia mau pōʻino he mau hōʻailonaʻikepili; ʻO nā mea'ē aʻe he meaʻikeʻoleʻia.
ʻEhā mau mea nui o ka chromosomal, nā mea a pau e pili ana i kahi maʻi: 45, X - Turner syndrome. 45, X, a iʻole ka nele o kahi maʻi male lua,ʻo ia ka pahuhopu maʻamau i Turner's Syndrome. ʻO kēlā kanaka kēia kanaka me kēia maʻi ka wahine kāne; pinepine ka maʻi iʻikeʻia i ka hānauʻana ma muli o kēlāʻano hiʻohiʻona e like me kaʻili o kaʻili i ka hope o ka'ā'ī, ka pupuʻana o nā lima a me nā wāwae a me ke kaumaha o ke kino. ʻO nā mea'ē aʻe heʻano lōʻihi,ʻo ka'ā'ī liʻiliʻi me nā pīni piko, a me ka umauma nui me nā nipples nui, nā puʻuwai naʻau a me nā pale kaua weliweli. ʻO ka hapanui o nā wāhine me ka maʻi o Turner, ua palekana lākou,ʻaʻohe o lākou ka noʻonoʻo aʻaʻole lākou e hoʻolālā i nā hiʻohiʻona pili lua, e like me nā moma mammary. ʻO ka mea maʻamau,ʻo nā poʻe maʻi a pau, akā, he kūlana maʻamau o ka uluʻana i kaʻike. ʻO ka hopena o ka maʻi Turner i waena o 1: 5000 a me nā wāhine 1:10 000.
■ 47, XXX - ka hanana o ka chromosome X.
Aia ma kahi o 1 i 1000 wahine he waiwai ko 47, XXX. ʻO nā wāhine me kēia maʻiʻeleʻele mau a lahilahi, me kaʻole o nā meaʻino maoli. Eia nō naʻe, he pinepine ka emiʻana o ka meaʻike me kekahi mau pilikia o ka hoʻonaʻauao a me nā hana. ʻO ka hapanui o nā wāhine me nā maʻi-X-chromosomes he momona a hiki iā lākou ke loaʻa nā keiki me kahi hoʻonohonoho maʻamau o nā chromosomes. ʻAʻole iʻike ikiʻia ka maʻi no ka hōʻailona o nāʻano phenotypic.
■ 47, XXY - Klinefelter's Syndrome. Ma kahi o 1 i 1,000 mau kāne ka maʻi Klinefelter. ʻO nā kāne me kahi'ōkalakala o 47, XXY he nānā mau i ka hānauʻana a me ka'ōpiopio, koe naʻe nā pilikia liʻiliʻi o ka hoʻonaʻauao a me nā hana. Hōʻikeʻia nā hōʻailona hōʻailona ma ka wā o ke kamaliʻi a me ka ulu nui, nā mea liʻiliʻi, ka nele o ka spermatozoa, a i kekahi manawa ke lawaʻole ka hoʻonuiʻana o nā hiʻohiʻona pili lua me ka momona momona nui.
■ 47, XYY - XYY maʻi. Loaʻa kahi meaʻokoʻa houʻo Y i kahi 1 i 1,000 mau kāne. ʻO ka nui o nā kānaka me ka maʻi XYY nānā pono i ka'ōmaʻomaʻo, akā, he kiʻekiʻe loa ko lākou ulu a he haʻahaʻa haʻahaʻa haʻahaʻa. ʻO nā kinona a me nā mea likeʻole e like me ka leka X a loaʻa iʻelua mau lima lōʻihi a meʻelua. ʻO ka Typical for Turner syndrome ka mea maʻamau: kahi isochomosoma ma ka lima lōʻihi. I ke kauʻiaʻana o nā hua a me ka spermatozoa, hiki ke kaʻawaleʻana o nā chromosomes, me ke kue i ka hoʻokaʻawaleʻana o kahi chromosome me nā poʻohiwi lōʻihiʻelua a me ka nele loa o nā chromosomes liʻiliʻi; ke kani kime. Ua hana ia no muli o ka pauʻana o nā hopena o nā mea pōkole a lōʻihi o ka Xromromome X a me ka hoʻohuiʻana i nā paukū i koe i ke apo; ka holoi (hapa) o kekahi hapa o ka lima pōkole e kekahi o nā X chromosomes. ʻO nā anomalies o ka lima lōʻihi o ka chromosome X kahi i hoʻonāukiuki ai i ka'ōnaehana hānau, e like me ka maleopause lōʻihi.
Y-chromosome
ʻO ka pūpū e pili ana i ka uluʻana o ke'ōpiopio male ma ka lima pōkole o ka chromosoma Y. Holoi o ka lima āpau e alakaʻi i ka hoʻokumuʻana i kahi hōʻailona wahine, pinepine me kekahi mau hōʻailona o Turner's Syndrome. ʻO nā Genes ma ka poʻohiwi lōʻihi ka hopohopo no ka uluʻana, no laila, hiki i nā hemoʻana maʻaneʻi ke hele pū me ka maleʻole.