Hloov ntawm tus neeg. Chromosomal change nyob rau hauv tib neeg

Hloov cov neeg sawv cev rau cov kev hloov uas tshwm sim nyob rau hauv ib lub cell ntawm cov DNA theem. Lawv muaj peev xwm yuav muaj ntau hom. Hloov ntawm tus neeg yuav ua tau nyob nruab nrab. Nyob rau hauv cov ntaub ntawv no, muaj yog synonymous hloov nucleoid. Cov kev hloov yuav muaj teeb meem. Lawv tsiag ntawv los ntawm khaus phenotypic nyhuv. Tsis tas li ntawd cov neeg hloov tej zaum yuav pab tau. Nyob rau hauv cov ntaub ntawv no, cov kev hloov muaj me me phenotypic nyhuv. Tom ntej no, cia peb xav txog nyob rau hauv ntau yam yuav ua li cas rau cov tib neeg hloov. Piv txwv ntawm kev hloov yuav tsum tau muab rau hauv tsab xov xwm.

kev faib

Qhia ntau hom ntawm change. Ib txhia ntawm cov pawg no, nyob rau hauv lem, nws tus kheej cais. Nyob rau hauv kev, muaj cov nram qab no hloov mus:

• Somatic.
• Chromosome.
• Cytoplasmic.
• Genomic change nyob rau hauv tib neeg thiab lwm hom.

Cov kev hloov noj qhov chaw nyob rau hauv tus ntawm ntau yam. Ib tug ntawm cov clearest mob ntawm cov kev pauv xam tau tias yog Chernobyl. Change ntawm cov neeg tom qab kev puas tsuaj pib tshwm sai li sai tau. Txawm li cas los, thaum lub sij hawm lawv tau los ua ntau thiab ntau pronounced.

Tib neeg chromosomal hloov

Cov kev hloov no yog yus muaj los ntawm cov yam ntxwv txawv txav. Lub chromosome so tshwm sim. Lawv nrog txawv rearrangements nyob rau hauv cov qauv. Yog vim li cas yog muaj tib neeg change? Yog vim li cas yog nyob rau hauv lub lwm yam:

• Lub cev. Cov no muaj xws gamma thiab X-rays, ultraviolet raug, kub (siab / tsis tshua muaj), lub electromagnetic teb, siab, thiab thiaj li nyob.
• Tshuaj. Qhov no muaj xws li alcohols, cytostatics, hnyav hlau salts, phenols thiab lwm yam sib txuas.
• Lom. Cov no muaj xws cov kab mob thiab cov kab mob.

txawj restructuring

Hloov ntawm tus neeg nyob rau hauv cov ntaub ntawv no tshwm sim nyob rau hauv ib txwm tej yam kev mob. Txawm li cas los, cov kev pauv yog pom nyob rau hauv ntiaj teb yeej yog tsis tshua muaj heev: 1 lab cov ntawv luam ntawm ib tug noob 1-100 mob. Tus paub txog JBS Haldane xam qhov nruab nrab yuav ua rau muaj tshwm sim haum. Nws yog ib tug tiam 5 * 10-5. Txawj loj hlob txoj kev nyob rau sab nraud thiab sab hauv yam - mutational siab nruab nrab.

feature

Chromosomal change yog feem ntau dej num raws li teeb meem. Pathologies uas tsim raws li ib tug tshwm sim ntawm reorganizations, feem ntau incompatible nrog lub neej. Raws li yooj yim yam ntxwv ntawm chromosomal change nyiam lo haum. Vim hais tias ntawm lawv tsim ntau yam tshiab "coalition". Cov kev hloov no yog reshaping lub noob muaj nuj nqi, faib lub ntsiab thoob plaws hauv lub genome los ntawm lub caij nyoog. Lawv coj tus nqi yog txiav txim nyob rau hauv kev xaiv.

Chromosomal change: kev faib

Muaj peb xaiv rau tej kev hloov. Nyob rau hauv kev, raug rho tawm iso, tuaj xam phaj, thiab intrachromosomal change. Xeem yus muaj los ntawm kev txawv txav (aberatsiyami). Lawv yog muab nyob rau hauv lub moj khaum ntawm ib tug tib chromosome. Qhov no pab pawg neeg kev hloov muaj xws li:

• Tua tej yaam tawm. Cov change sawv cev nrog tsis tau tog twg los kawg feem ntawm lub chromosome. Lub restructuring ntawm no zoo muaj peev xwm ua rau ib tug ntau ntawm anomalies thaum lub sij hawm txoj kev loj hlob embryonic (piv txwv li, congenital plawv kho raws hom).
• Inversion. Qhov kev hloov no yuav txoj kev sib hloov ntawm ib tug chromosome fragment mus rau 180 degrees. thiab teem nws nyob rau hauv yav tas los ntawm qhov chaw. Nyob rau hauv cov ntaub ntawv no, qhov kev txiav txim ntawm lub yam ntxwv lub ntsiab yog tawg, tab sis qhov no tsis cuam tshuam rau phenotype, yog hais tias muaj yog tsis muaj ntxiv yam.
• Duplications. Lawv sawv cev rau kev ua lej khu chromosome fragment. Xws li ib tug txawv los ntawm cov cai provokes tib neeg heritable change.

Interchromosomal hloov (translocations) yog exchanged ntawm cov ntsiab ntawm cov feem nyob rau hauv uas lub noob yog zoo sib xws. Cov kev hloov no yog muab faib mus rau hauv:

• Robertsonian. Yog tsim es tsis txhob ntawm ob suab metacentric acrocentric chromosomes.
• Nonreciprocal. Nyob rau hauv cov ntaub ntawv no, lub mus feem ntawm ib tug chromosome mus rau lwm lub.
• Reciprocal. Nyob rau hauv cov rearrangements yog exchanged nruab nrab ntawm ob ntsiab.

Izohromosomnye change tshwm sim vim tus tsim ntawm chromosomal cov ntawv luam ntawm daim iav qhov chaw ntawm lub lwm yam ob, uas muaj cov tib noob poob lawm. Xws li ib tug txawv los ntawm cov cai xa centric compound tshuav rau lub fact ntoo khaub lig chromatid sib cais tshwm sim los ntawm centromere.

Lub hom hloov

Muaj yam ntxwv thiab hais txog zauv chromosomal change. Cov yav tas, nyob rau hauv lem, muab faib mus rau hauv aneuploidy (qhov no tsos (trisomy) los yog poob (monosomy) ntxiv hais) thiab polyploidy (uas quav nce nyob rau hauv lawv cov xov tooj). Lub Khoos Loos Tsev reorganization hais inversions, tua tej yaam tawm, translocations, insertions, thiab isochromosome centric rings.

Tus sis ntawm lub ntau yam ntawm rearrangements

Genomic change yog txawv kev hloov nyob rau hauv lub xov tooj ntawm cov yam ntxwv hais. Noob change yog irregularities nyob rau hauv cov qauv ntawm cov noob. Chromosomal change cuam tshuam cov qauv ntawm cov chromosomes lawv tus kheej. Thawj thiab lub xeem, nyob rau hauv lem, muaj tib faib los ntawm polyploidy thiab aneuploidy. Restructuring kev hloov ntawm lawv yog ib tug Robertsonian translocation. Cov change ua ke nyob rau hauv xws li ib tug kev taw qhia, thiab lub tswvyim ntawm cov tshuaj raws li ib tug "chromosomal abnormality". Nws muaj xws li:

• Somatic pathology. Cov no muaj xws tawg pathology, piv txwv li.
• Intrauterine ntshawv siab. Nws yuav ua tau txawj abortions, ncuav me nyuam tau.
• Chromosomal kab mob. Cov no muaj xws Down syndrome, thiab lwm tus neeg.

Tam sim no, hais txog ib puas paub anomalies. Tag nrho cov ntawm lawv twb kawm thiab piav txog. Raws li qhia syndromes txog 300 cov ntaub ntawv.

Nta ntawm congenital txawv txav

Mob muaj keeb change yog hais haum feem. Pawg no yog yus muaj los ntawm ntau yam tsis xws luag nyob rau hauv txoj kev loj hlob. Tsim raws li ib tug tshwm sim ntawm kev ua txhaum ntawm lub tseem ceeb tshaj plaws kev hloov nyob rau hauv lub DNA. Txhab tshwm sim thaum lub sij hawm fertilization, gamete maturation, thawj zaug theem ntawm qhov kev sib cais ntawm lub qe. Tsis ua hauj lwm muaj peev xwm tshwm sim txawm thaum phiajcim txig noj qab nyob zoo niam txiv hlwb. Qhov no tus txheej txheem yog hnub no tseem tsis tau tshuaj thiab yog tsis tau kiag li to taub.

Lub txim txog cov kev hloov

Teeb meem ntawm chromosomal change zoo li yuav heev unfavorable rau tus neeg. Feem ntau lawv ntxias:

• Nyob rau hauv 70% - txawj rho menyuam.
• Malformations.
• Thaum 7.2% - stillbirth.
• Cov tsim ntawm hlav.

Tiv thaiv lub keeb kwm ntawm cov theem ntawm chromosomal txawv txav txhab nyob rau hauv nruab nrog cev los ntawm ntau yam: cov hom ntawm anomalies, ntau los yog tsis txaus cov ntaub ntawv uas nyob rau hauv ib tug neeg chromosome, ib puag ncig tej yam kev mob, lub genotype ntawm tus kab mob.

pathologies pawg

Tag nrho chromosomal kab mob yog muab faib ua ob pawg. Tus thawj yog cov ua txhaum provoked nyob rau hauv lub xov tooj ntawm cov ntsiab. Cov pathologies tshwm sim tawm lub ib thooj ntawm chromosomal kab mob. Tshwj trisomies, monosomy thiab lwm yam ntaub ntawv ntawm cov polysomes nyob rau hauv pab pawg neeg no muaj xws li tetraploidy thiab triploidy (nyob rau ntawm lawv txoj kev tuag tshwm sim yog nyob rau hauv lub plab los yog nyob rau hauv thawj ob peb teev tom qab yug tus me nyuam). Feem ntau cov feem ntau kuaj Down syndrome. Nws yog raws li nyob rau hauv kev tshuaj ntsuam genetic tsis xws luag. Down syndrome yog muaj npe tom qab lub npe ntawm cov menyuam yaus, uas piav txog nyob rau hauv 1886. Tam sim no, qhov no syndrome yog lub feem ntau kawm ntawm tag nrho cov chromosomal txawv txav. Abnormality tshwm sim nyob rau hauv hais txog ib tug ntawm 700. Qhov thib ob pab pawg neeg no muaj xws li cov kab mob tshwm sim los ntawm cov yam ntxwv hloov nyob rau hauv chromosomes. Cov cim ntawm cov pathologies muaj xws li:

• Kev loj hlob ruamqauj.
• Hlwb ruamqauj ib.
• Roundness qhov ntswg.
• Sib sib zog nqus qhov muag tsaws.
• Lub plawv tsis xws luag (congenital) thiab lwm tus neeg.

Ib txhia cov kab mob yog tshwm sim los ntawm ib tug kev hloov nyob rau hauv lub xov tooj ntawm tus txiv neej pw chromosomes. Cov neeg mob uas xws change tsis muaj progeny. Rau hnub tim, muaj yog tsis muaj kom meej meej tsim etiological kev kho mob ntawm cov kab mob xws. Txawm li cas los, tus kab mob no yuav tiv thaiv tau los ntawm txoj kev pab thaum mob.

Lub luag hauj lwm nyob rau hauv lub evolution ntawm

Tiv thaiv lub keeb kwm ntawm pronounced hloov nyob rau hauv lub tej yam kev mob ntawm yav tas los muaj teeb meem change yuav pab tau. Raws li ib tug ntawm xws li hloov pom tau hais tias yuav cov ntaub ntawv uas rau xaiv. Yog hais tias lub hloov yog tsis cuam tshuam los ntawm lub "ntsiag to" DNA tawg tsam los yog nws provokes tus muab los ntawm ib tug fragment synonymous code, raws li ib tug txoj cai, nws tsis qhia nws tus kheej nyob rau hauv txhua txoj kev nyob rau hauv lub phenotype. Txawm li cas los, xws hloov yuav raug kuaj. Rau lub hom phiaj no, txoj kev noob tsom xam. Vim lub fact tias cov kev hloov tshwm sim vim raug tej yam ntuj tso yam, ces, piv txwv tias yog hais tias lub ntsiab yam ntxwv ntawm cov ib puag ncig tseem unchanged, nws zoo nkaus li tias change tshwm sim kwv yees li ntawm qhov zaus. Qhov tseeb yuav tsum muaj ntaub ntawv nyob rau hauv txoj kev tshawb no ntawm phylogeny - tus tsom xam ntawm kinship thiab keeb kwm ntawm txawv taxa, xws li tus txiv neej. Nyob rau hauv kev twb kev txuas nrog rau qhov no hloov nyob rau hauv "ntsiag to noob" tus kws lijchoj rau kev soj ntsuam raws li ib tug "molecular moos." Qhov kev tshawb xav tau raws lub fact tias feem ntau ntawm cov kev hloov yog nruab nrab. Lawv tus nqi ntawm tsub zuj zuj nyob rau hauv ib tug noob yog tsis muaj zog los yog kiag li ywj siab ntawm tus ntawm natural xaiv. Raws li ib tug tshwm sim ntawm cov kev hloov yuav qhov tshaj ib tug ntev lub sij hawm. Txawm li cas los, rau ntau yam noob siv yuav muaj.

Nyob rau hauv xaus

Txoj kev tshawb no ntawm lub mechanism ntawm tshwm sim, ntxiv kev loj hlob ntawm lub rearrangements nyob rau hauv lub mitochondrial deoxyribonucleic acid, uas yog hloov dua siab tshiab rau tus xeeb ntxwv los ntawm cov niam kab, thiab nyob rau hauv lub Y-chromosomes, dhau los ntawm leej txiv, yog dav siv niaj hnub no txaus nyob rau hauv evolutionary biology. Sau, analyzed thiab systematized cov ntaub ntawv, kev tshawb fawb tau no yuav muab nyob rau hauv kev tshawb fawb ntawm cov keeb kwm ntawm lub ntau yam nationalities thiab haiv neeg. Ntawm kev tseem ceeb yog cov lus qhia ntawm lub reconstruction ntawm lub lom tsim thiab kev loj hlob ntawm noob neej.