Mutation o kanaka. Chromosomal mutations i loko o kānaka

Mutation kanaka ho i nā hoʻololi i hana i loko o ka halepaahao ma ka DNA pae. Ka mea hiki ia i nāʻano. Mutation o kanaka ke e'ākilikai. Ma keia hihia, he mea synonymous hakahaka nucleoid. Loli hiki e nā palapala. Ka mea, i wehewehe aku e pili phenotypic hopena. Kekahi kanaka mutation i e maikaʻi kēia. Ma keia hihia, nā loli i ka poe liilii, phenotypic hopena. Next, e mākou noʻonoʻo i nui au mamuli pehea ke kanaka mutation. Ano he kumu hoʻohālike o ka loli, e hāʻawiʻia i loko o ka pauku.

Mea Maluna

E kuhikuhi i nāʻano o nā mutations. Kekahi o na waeʻano i, ma ka huli, kona iho Mea Maluna. Ma kekahi, ma laila nō ke kēia mutations:

• Somatic.
• Chromosome.
• Cytoplasmic.
• Genomic mutations i kānaka a me nā? Ueo.

Loli e lawe wahi ma lalo o ka aoao o ka likeʻole aʻe. Kekahi o ka clearest hihia o ia mau loli noʻonoʻo Chernobyl. Mutations o kanaka ma hope o ka pilikia, hoomaka ae la e ike koke ia. Eia naʻe, ma manawa ka mea, lilo iho la oi a oi hai.

Kanaka chromosomal mutation

Mau loli i wehewehe aku e mall abnormalities. Ke chromosome, mai hemo mai ana. Ka mea, i hele pu me ia e okoa rearrangements i loko o ka 'ole. No ke aha lā i loaʻa kanaka mutations? Ke kumu i loko o ka mawaho aʻe:

• Helu. Mau nā gamma a me ka X-kukuna, ultraviolet waiū, wela (kiʻekiʻe / haʻahaʻa), i ka electromagnetic a ke kahua, puʻe, a no laila, ma luna o.
• Nine. Kēia nā waiʻona mai ke kino, cytostatics, kaumaha metala paʻakai, phenols a me nā hui.
• Liluwelo. Mau nā koʻohune a me nā mea hoʻomaʻi.

noho'na makaainana i ulu ka kūkuluʻana

Mutation ana o kanaka ma keia hihia hihia ma lalo o maʻamau ana. Eia naʻe, ua loli i loaʻa ma ka 'ano e loa pohihihi keia. 1 miliona kope o ka ua'ōewe 1-100 hihia. Nä känaka 'epekema JBS Haldane pōpilikia ka awelika likelihood o ka noho'na makaainana i ulu hoʻoponopono. Ua ua He hanauna 5 * 10-5. Noho'na makaainana i ulu kūpono 'ana kaʻina hana hilinaʻi nui ma luna mawaho, a na aʻe - mutational puʻe meakino.

hiʻona

Chromosomal mutations i ka hapanui hoʻolaha me nā palapala. Pathologies e hoʻomōhala i ka hopena o reorganizations, pinepine incompatible me ke ola. Like walaʻauʻana ano o ka chromosomal mutations i ka lokomaikaiia, accidental hoʻoponopono. No ka mea, o ka lakou hana mau hou "ʻahahui". Mau loli i reshaping i ka papa'ōewe, haawi na kumu ma ka genome ma ka iho. Lākou adaptive cia me ka nānā 'ia ma ke koho kaʻina.

Chromosomal mutations: Mea Maluna

Aia he ekolu koho no ia mau loli. Ma kekahi, kaʻawale pokepark, inter- a me intrachromosomal mutations. Hope i wehewehe aku e abnormalities (aberatsiyami). Ka mea i hōʻike 'ia ma ka? Aieao o ka hoʻokahi chromosome. Kēia pūʻulu loli nā:

• Holoi '. Mau mutations ho i na lilo o kekahi hopena hapa o ka chromosome. ʻO ka kūkuluʻana o keia ano keia ano hiki i ka puu o anomalies iloko o embryonic? Acaeoey (no ka laʻana, congenital naau kina type).
• Hahana. Kēia loli komo ai i ke kuapo o ka chromosome apana nahaha i 180. a hoonoho iho la ia ma luna o ka mua paena. Ma keia hihia, no ka mea o ka mall hehee wale ka mea i haki, akā, i kēia 'aʻole i pili i ka phenotype, ina he mea ole hou aʻe.
• Duplications. Ka mea, ho i multiplication chromosome apana nahaha. Oia ka haiahū kūmau mai ke kūmau hoʻonāukiukiʻana mai o kanaka heritable mutations.

Interchromosomal hoʻoponopono (translocations) e ana ma waena o oihana mua o nā'āpana ma a na nā'ōewe i like. Mau loli i māheleʻia i loko o:

• Robertsonian. Ua hana kahi o ka leo metacentric acrocentric chromosomes elua.
• Nonreciprocal. Ma keia hihia, i ka neʻeʻana hapa o kekahi chromosome i kekahi.
• Reciprocal. Ma lalo o kēia mau rearrangements i ua panai aku ma waena o nā mau hehee wale.

Izohromosomnye mutations e ala aie i ke kahua o ka chromosomal kope o ke aniani 'ō o ka'ē aʻeʻelua, i pihaʻi me na ia'ōewe e puhi ia. Oia ka haiahū kūmau mai ke kūmau haawiia centric i huiia ka kekahi i ka mea kea chromatid kaawale ana 'ia ma ka centromere.

Nā 'ano o nā loli

Aia mau mall a me ka laulā chromosomal mutations. Ka la mahope, i ka huli, ua mahele ia i loko o aneuploidy (i kēiaʻano (trisomy) a me ka poho (monosomy) nā kumu mua) a me ka polyploidy (ia pa mahuahua i loko o kā lākou helu). Mall reorganization hōʻike hahana, holoi ', translocations, hookomo, a me isochromosome centric apo.

Ke AaOIeIOUIeXAOAaIN oʻano o rearrangements

Genomic mutations nā loli okoa ma ka helu o mall hehee wale. 'ōewe mutations i paewaewa ma ka 'ole o nā nā'ōewe. Chromosomal mutations loli i ka 'ole o ka chromosomes lakou iho. Mua a me ka hope, i ka huli, i ka mea ia Mea Maluna ma ka polyploidy a me ka aneuploidy. Ka kūkuluʻana hoʻololi ma waena o ia mea he Robertsonian translocation. Mau mutations i hui i loko o ia ke kauoha, a me ka manaʻo o ka lapaau like me ka "chromosomal abnormality". It nā:

• Somatic pathology. Mau nā pāhawewe pathology, no ka laʻana.
• Intrauterine kāna hana. Ua hiki e noho'na makaainana i ulu abortions, miscarriages.
• Chromosomal maʻi. Mau nā Down maʻi pale, a me na mea e ae.

Ma keia, ma kahi o hoʻokahi haneri ikeia anomalies. A pau o ia i? Anoee a me ka hoakakaia. Like hōʻike syndromes ma kahi o 300 'ano apau loa.

Hiʻona o congenital abnormalities

Hereditary mutations i hōʻike mai iā ia ke 'ano nui. Kēia waeʻano Ua wehewehe aku e mau mā ma ka ulu ana. I hanaʻia e like me ka hopena o ka 'aʻe' ana i nā hoʻololi loaʻiʻo i loko o ka DNA. Lesions hana ana i fertilization, gamete maturation, ke kuʻina ka loiloi mua o ke kaawale ana o ka hua. Ole ke hana i ka wā merging pono ola makua keena. Kēia kaʻina mea i keia la no hiki ole ke lāʻau a me ka mea,ʻaʻole loa hoomaopopo.

Ka hopena o ka loli

Complications o chromosomal mutations kamaʻilioʻana i e loa lakou malaila a hiki i ke kanaka. Pinepine ka mea, hoʻonāukiuki:

• I ka 70% - noho'na makaainana i ulu abortion.
• Malformations.
• At 7,2% - stillbirth.
• I ka ho okumu ana o hikoko.

E kū'ē i ke kāʻei kua o ka nui o ka chromosomal abnormalities lesions i loko o nā loko, kena ae la ia e likeʻole aʻe: i ke 'ano o nā anomalies, excessive a lawa mea i loko o kekahi kanaka chromosome,? Aneie rula, i ka genotype o ka meaola.

pathologies pūʻulu

All chromosomal maʻi e māheleʻia i loko o nā waeʻano. Ka mua o ka 'aʻe' hoʻonāukiuki aku i loko o ka helu o ka hehee wale. Mau pathologies lakou i ka bulk o chromosomal maʻi. Ina aole trisomies, monosomy a me nā ano o polysomes ma keia pae nā tetraploidy a triploidy (ma kā lākou make ia lŘlŘ kekahi i loko o ka opu a me ka mea mua mau hola ma hope o ka hānau). Loa pinepine ia akulla Down maʻi pale. Ua Ua nānā 'ana i aaiaoe mā. Down maʻi pale ua kapaʻia ma hope o ka inoa o ka pediatrician, ka mea i ho'ākāka 'ia i loko o 1886. I keia manawa, i kēia maʻi pale o ka loa? Anoee o nā mea a pau chromosomal abnormalities. Abnormality ia lŘlŘ i loko o kahi o kekahi mai o 700. ka lua o ka pūʻulu nā mai, kena ae la ia e mall loli ma chromosomes. Na hoailona o kēia mau pathologies nā:

• Ulu retardation.
• Noʻonoʻo retardation.
• Roundness ihu.
• Deep maka paena.
• Heart mā (congenital) a me na mea e ae.

maʻi kekahi i kauoha ae la ia e kekahi loli ma ka helu o ke keka chromosomes. Hoʻomanawanui iki mai me na mutations i ole MOKUNA XXXIII. I ka lā,ʻaʻohe mea i maopopo ulu etiological lapaʻau o ia mau maʻi. Naʻe, i ka maʻi hiki ke hooki ma ka mea o prenatalʻike.

Kūlana ma ka evolution o

E kū'ē i ke kāʻei kua o ka haʻi loli ma na olelo o ka palapala mua mutations hiki e maikaʻi kēia. E like me ka hopena o ka hoʻoponopono i manaoia e e nā no ka wae. Inā ka mutation ua i loli ana ma ka "malie" DNA koena ai a ua hoʻonāukiukiʻana mai o ka hakahaka o kekahi apana nahaha synonymous kivila, e like me ka rula, ka mea, aole e hoike mai ai ia ia iho i loko o kekahi alanui i loko o ka phenotype. Eia naʻe, ua hoʻoponopono hiki ke 'akomi i. No keia mea, ki ina hana like o ka'ōewe Ka Ikepili. Aie i ka mea i loli hana ma muli o ka waiū i maoli aʻe, a laila, holoholo i ka papa kuhikuhi ano o ke kaiapuni koe kŰlń, eia kahi mea akaka i mutations hou ka hola ma kekahi mau alapine (frequency). Kēia mea hiki ke noi i loko o ke ao o ka phylogeny - ka Ka Ikepili o ka kinship a me ka kumu o kekahi taxa, me ke kanaka. Ma pili ana me keia ka kūkuluʻana i loko o ka "noho malie nā'ōewe" koiʻo no ka noiʻi like me ka "hakakino uaki." Ke kumumanaʻo Ua hoi ma muli o ka nui, e hoike i ka hapanui o nā loli i'ākilikai. Kā lākou uku o ka hoʻomāhuahua i loko o ka ua'ōewe mea nawaliwali paha pono kuokoa o ka aoao o maoli wae. E like me ka hopena o ka mutation i ikaika ma luna o ka lōʻihi wā. Eia naʻe, no ka mea, kela nā'ōewe pinepine 'e ponoi.

ma ka hopena

I ka like o keʻano papa hana o ka hanana, hou kūpono 'ana o nā rearrangements i loko o ka mitochondrial deoxyribonucleicʻakika, a ua hoohuliia mai i ke keiki ma ka maternal laina, a ma ka Y-chromosomes, hele mai ka makua kāne, ua hoʻomano hoʻohana i kēia lā lawa ma evolutionary kālaimeaola. Ohi, ua kālailai a me ka systematized mea, e hoʻohana noiʻi i nā hualoaʻa ma ka haʻawina o ke kumu o ka nationalities likeʻole a me nā lāhui kanaka kēlā hana. A pau nui i ka 'ike i ka? Aeiino? Oeoey o ka liluwelo kahua a me ka ulu ana o kanaka a pau.