Noob change yog txuam nrog rau cov kev hloov nyob rau hauv lub xov tooj thiab cov qauv ntawm chromosomes

Tos cov me nyuam yug ntawm ib tug me nyuam - qhov zoo tshaj plaws lub sij hawm rau cov niam txiv, tab sis kuj cov phem tshaj. Muaj ntau muaj kev txhawj xeeb tias cov me nyuam tej zaum yuav yug nrog rau tej kev tsis taus, lub cev lossis lub hlwb xiam oob khab.

Science tsis sawv tseem, nws yog tau mus xyuas rau lub me ntsis tus me nyuam nyob rau hauv cev xeeb tub rau hauv lub xub ntiag ntawm kev txawv txav nyob rau hauv txoj kev loj hlob. Yuav luag tag nrho cov ntawm cov kev ntsuam xyuas muaj peev xwm qhia yog hais tias tag nrho cov ok nrog tus me nyuam.

Yog vim li cas yog nws hais tias tus tib cov niam txiv yuav yug sib txawv kiag li cov me nyuam - noj qab nyob zoo tus me nyuam thiab ib tug me nyuam nrog ib tug xiam oob qhab? Nws txhais tau noob. Thaum yug tsis paub qab hau tus me nyuam los yog tus me nyuam nrog ib tug lub cev tsis taus kev cuam tshuam rau noob noob txuam nrog kev hloov nyob rau hauv cov qauv ntawm cov DNA. Peb mam li tham ntxiv txog qhov ntawd. Cia peb kawm saib yuav ua li cas qhov no tshwm sim, ib txhia noob change yog, thiab lawv ua.

Yuav ua li cas yog ib tug hloov?

Hloov - ib tug kev hloov nyob rau hauv lub physiological thiab lom hlwb nyob rau hauv DNA qauv. Yog vim li cas tej zaum yuav raug tus kab mob (thaum lub sij hawm cev xeeb tub yuav tsis coj cov duab ntawm lub X-ray, rau kev raug mob thiab pob txha lov), ultraviolet rays (ntev hnub raug thaum lub sij hawm cev xeeb tub, los yog nyob rau hauv lub chav tsev nrog lub ultraviolet teeb). Tsis tas li ntawd, cov change yuav kis tau rau thiab pub los ntawm peb pog koob yawg koob. Tag nrho cov ntawm lawv yog muab faib ua ntau hom.

Noob change nrog kev hloov nyob rau hauv chromosome qauv los tus naj npawb ntawm

Chromosomal hloov - ib tug hloov nyob rau hauv uas cov qauv thiab cov naj npawb ntawm cov chromosomes hloov. Chromosomal cheeb tsam tej zaum yuav poob los yog ob, tau tsiv mus rau nonhomologous tsam, tig los ntawm lub cai rau ib puas thiab yim caum degrees.

Cov ua xws li ib tug hloov - ib tug ua txhaum nyob rau hauv krossengovere.

Noob change yog txuam nrog ib tug kev hloov nyob rau hauv chromosome qauv los yog lawv muaj nuj nqis, yog qhov ua rau ntawm mob loj heev thiab cov kab mob nyob rau hauv tus me nyuam. Cov kab mob no yog incurable.

Hom ntawm chromosome change

Tsuas yog ob hom loj chromosomal change txawv: lej thiab cov yam ntxwv. Aneuploidy - yog tus naj npawb ntawm hom ntawm chromosomes, uas yog, thaum noob noob yog txuam nrog ib tug kev hloov nyob rau hauv lub xov tooj ntawm chromosomes. Nws yog ib lub rov tshwm sim ntawm ntau thiab ntau ntawm lub yav tas, tsis tau ntawm tej yam ntawm lawv.

Noob change txuam nrog kev hloov nyob rau hauv cov qauv nyob rau hauv lub rooj plaub uas lub chromosome so, thiab tom qab rov qab sib koom, rhuav lub cev configuration.

Hom txog zauv chromosome

Los ntawm tus xov tooj ntawm change rau chromosome aneuploidy qhia, ie hom. Xav txog lub ntsiab, paub qhov sib txawv.

• trisomy

Trisomy - yog lub rov tshwm sim nyob rau hauv lub karyotype ntawm ib tug ntxiv chromosome. Cov feem ntau tshwm sim - yog lub rov tshwm sim ntawm tus nees nkaum-thawj chromosome. Nws yuav qhov ua rau ntawm Down syndrome, los yog, raws li lawv hu nws tus kab mob - trisomy ntawm nees nkaum-thawj chromosome.

Patau Syndrome yog kuaj tau los ntawm lub thib kaum peb thiab kaum yim rau chromosome thiaj paub hais tias Edwards syndrome. Nws yog tag nrho autosomal trisomy. Lwm yam trisomies yog tsis zaum, lawv tuag nyob rau hauv lub plab, thiab yog ploj mus thaum txawj rho menyuam. Cov neeg uas muaj ntxiv nrog txiv neej pw chromosomes (X, Y), - sustainable. Cov soj ntsuam manifestation ntawm xws change yog tsawg heev li.

Noob change txuam nrog kev hloov nyob rau hauv xov tooj tshwm sim rau tej yog vim li cas. Trisomy feem ntau yuav tshwm sim thaum lub divergence ntawm lub chromosomes homologous nyob rau hauv anaphase (meiosis 1). Cov tshwm sim ntawm no divergence yog hais tias ob chromosomes poob xwb nyob rau hauv ib tug ntawm ob tus ntxhais lub hlwb, thiab lub thib ob yog empty.

Tsawg zaus, tej zaum nws yuav tsis yog-disjunction ntawm chromosomes. Qhov no tshwm sim yog hu ua ib tug ua txhaum ntawm lub sib xws ntawm tus muam chromatids. Nws tshwm sim nyob rau hauv meiosis 2. Qhov no yog cov ntaub ntawv thaum ob tug zoo tib chromosomes khom nyob rau hauv ib tug gamete, ua trisomic zygote. Nondisjunction tshwm sim nyob rau hauv thaum ntxov ua sawv ntawm lub qe crushing txheej txheem uas tau raug fertilized. Yog li, ib tug clone mutant hlwb uas yuav them ib los yog me me ib feem ntawm cov ntaub so ntswg. Tej zaum nws manifests nws tus kheej clinically.

Muaj ntau ntawm cov nees nkaum-thawj chromosome yog txuam nrog rau cov hnub nyoog ntawm cov cev xeeb tub poj niam, tab sis qhov no zoo tshaj kom txog rau thaum hnub no twb tsis muaj pov thawj. Vim li cas tsis diverge chromosome, nyob twj ywm tsis paub hais tias.

• monosomy

Monosomy hu ua cov tsis muaj ib yam ntawm cov autosomes. Yog hais tias qhov no tshwm sim, ces nyob rau hauv feem ntau nws yog tsis yooj yim sua los ua tim txiv hmab txiv ntoo, ntxov ntxov yug tshwm sim nyob rau hauv thaum ntxov ua sawv. Exception - monosomy vim nees nkaum-thawj chromosome. Yog vim li cas hais tias muaj yog ib tug monosomy yuav ua uas tsis yog-disjunction ntawm chromosomes, thiab txoj kev poob ntawm chromosomes thaum lub sij hawm anaphase nws txoj kev nyob rau hauv rau lub tawb.

Los ntawm monosomy nrog txiv neej pw chromosomes tau nyob rau hauv ib tug fetus nyob rau hauv uas lub XO karyotype. Soj ntsuam qhov tseeb ntawm tus karyotype - Turner syndrome. Eighty feem pua ntawm cov neeg tawm ntawm ib puas tsos monosomy ntawm lub X chromosome yog vim ua txhaum ntawm meiosis tus me nyuam txiv. Qhov no yog vim nondisjunction X thiab Y chromosomes. Yeej, tus txiv hmab txiv ntoo ntawm lub XO karyotype yog tua nyob rau hauv lub tsev menyuam.

Raws li tus txiv neej pw chromosomes trisomy yog muab faib ua peb yam: 47 XXY, XXX 47, 47 XYY. Klinefelter lub syndrome yog Trisomy 47 XXY. Nrog xws li ib tug karyotype sij hawm mus rau tim ib tug me nyuam muab faib tsib caug-tsib caug. Qhov ua rau ntawm no syndrome yuav ua tau ib tug nondisjunction ntawm chromosome X, los yog X thiab Y nondisjunction spermatogenesis. Qhov thib ob thiab thib peb karyotypes yuav tsuas tshwm sim nyob rau hauv ib tug ntawm cov txhiab ntawm cev xeeb tub cov poj niam, lawv suab tsis tshwm sim nyob rau hauv feem ntau tus neeg mob, kws txawj pom heev los ntawm kev huam yuaj.

• polyploidy

Qhov no noob noob txuam nrog kev hloov nyob rau hauv lub haploid txheej chromosomes. Cov khoom siv yuav tsum peb npaug thiab quadruple. Triploids tau feem ntau thiaj paub hais tias tsuas yog thaum muaj ib tug txawj rho menyuam. Muaj ob peb tus neeg mob qhov twg tus niam muaj kev tswj kom ua xws li ib tug me nyuam, tab sis tag nrho lawv tuag ua ntej ncav lub hnub nyoog thiab lub hli. Mechanisms ntawm noob change nyob rau hauv cov ntaub ntawv triplodii ua thiab ua kom tiav dispersion ntawm nondisjunction ntawm chromosome poob lawm yog poj niam los yog txiv neej tus kab hlwb. Tsis tas li ntawd, lub mechanism yuav ua ib tug muab ob npaug rau fertilization ntawm lub qe. Nyob rau hauv cov ntaub ntawv no, muaj degeneration ntawm lub tsho me nyuam. Qhov no rebirth yog hu ua hniav puas cev xeeb tub. Feem ntau, cov kev hloov no ua rau txoj kev loj hlob ntawm tus me nyuam puas siab puas ntsws thiab muaj sia mob, rho menyuam.

Uas noob noob yog txuam nrog ib tug kev hloov nyob rau hauv chromosome qauv

Cov yam ntxwv hloov yog ib tug txim ntawm chromosomal so (puas) chromosome. Raws li ib tug tshwm sim ntawm cov chromosomes yog kev cob cog rua, rhuav nws yav tas los zoo li. Cov kev hloov kho tej zaum yuav kauj thiab balanced. Balanced tsis muaj surplus los yog shortage ntawm cov khoom, tiam sis yog tsis qhia. Lawv muaj peev xwm tshwm sim tau tsuas yog nyob rau hauv cov mob uas nyob rau hauv qhov chaw puas tsuaj rau lub chromosome yog ib tug noob uas yog feem tseem ceeb heev. Nyob rau hauv ib tug kuas txheej gametes yuav tshwm sim kauj. Nyob rau hauv qhov tsim nyog tau ntawm no gamete fertilization yuav ua rau cov tsos ntawm ib tug me nyuam hauv plab nrog ib kauj chromosome teeb. Nrog rau qhov no set lub fetus seb puas tsimnyog tau ib tug xov tooj ntawm malformations tshwm sim mob hnyav pathologies.

Hom ntawm cov yam ntxwv hloov

Noob change tshwm sim nyob rau theem ntawm gamete tsim. Yuav kom tiv thaiv txoj kev no tsis tau, tsis muaj peev xwm tsis yeej paub hais tias xws li change zaum yuav tshwm sim. Lub Khoos Loos Tsev hloov muaj ob peb hom.

• tua tej yaam tawm

Qhov kev hloov no yog vim txoj kev poob ntawm ib feem ntawm chromosome. Thaum no kis yuav luv luv chromosome, thiab nws severed feem yog poob nyob rau hauv lub ntxiv cell division. Interstitial tua tej yaam tawm - qhov no yog cov ntaub ntawv thaum twg ib tug chromosome yog tawg nyob rau hauv ob peb qhov chaw. Cov chromosomes yog feem ntau tsim nonviable fetus. Tab sis muaj mob qhov twg cov me nyuam dim, tiam sis lawv muaj vim hais tias ntawm no set ntawm chromosomes yog Hma-Hirschhorn syndrome, "miv lub suab quaj."

• Individuals

Cov noob change tshwm sim nyob rau theem ntawm lub koom haum ntawm DNA ob. Yeej Individuals tsis tau qhov ua rau ntawm tej kev txawv txav uas ua rau tua tej yaam tawm.

• translocation

Translocation tshwm sim vim cov kev hloov ntawm kev tshuaj ntsuam genetic ntaub ntawv los ntawm ib tug chromosome mus rau lwm lub. Yog hais tias muaj yog ib tug rupture nyob rau hauv ob peb chromosomes thiab lawv pauv theem, nws ua ib tug ua ntawm retsiproktnoy translocation. Lub karyotype ntawm no translocation muaj tsuas plaub caug-rau chromosomes. Tus heev tib yam translocation tsuas qhia los ntawm ib tug ncauj lus kom ntxaws tsom xam thiab txoj kev tshawb no ntawm chromosomes.

Cov kev hloov nyob rau hauv lub nucleotide ib theem zuj zus

Noob change yog txuam nrog ib tug kev hloov nyob rau hauv lub nucleotide ib theem zuj zus, thaum qhia nyob rau hauv ib tug kev hloov kho ntawm cov qauv ntawm tej seem ntawm DNA. By xws hloov los yog muab faib ua ob hom - tsis muaj ib tug ncej ua haujlwm thiab ua haujlwm. Yuav kom paub raws nraim li cas ua rau cov kev hloov ntawm DNA, nws yog tsim nyog los xav txog txhua yam nyias.

Ncej ua haujlwm hloov, tsis muaj

Cov noob noob yog txuam nrog rau qhov kev hloov thiab kev hloov ntawm lub hauv paus officers nyob rau hauv lub DNA qauv. Yog hais tias xws substitutions tsis txhob poob lub DNA ntev, tiam sis yuav tsum poob thiab cov kev hloov ntawm cov amino acids. Muaj yog ib tug tau hais tias cov qauv ntawm cov protein yog khaws cia, nws yuav pab raws li lub degeneracy ntawm lub caj code. Xav txog lub ntsiab lus ntawm tag nrho ob qho kev xaiv: cov kev hloov thiab tsis muaj amino acid hloov.

Hloov los ntawm hloov amino acids

Thaum koj hloov lub amino acid residue nyob rau hauv lub polypeptide hu ua missense change. Nyob rau hauv lub hemoglobin molecule muaj plaub tib neeg chains - ob "thiab" (nws yog nyob rau hauv lub thib kaum rau chromosome), thiab ob tug "b" (coding nyob rau hauv lub thib kaum ib chromosome). Yog hais tias "b" - ib tug cev ntau, thiab muaj yog ib puas plaub caug thiab thib rau amino acid residues nyob rau hauv nws cov qauv, thiab lub thib rau yog ib tug glutamic, cov qe ntshav liab yog dab tsi. Nyob rau hauv cov ntaub ntawv no, lub glutamic acid yuav tsum tau kho GAA triplet. Yog hais tias vim change GAA GTA hloov, es tsis txhob ntawm glutamic acid nyob rau hauv lub hemoglobin molecule tsim valine. Yog li, tsis txhob siv lub qub hemoglobin HbA tshwm lwm hemoglobin HbS. Yog li, lub muab los ntawm ib cov amino acid, thiab ib zaug xwb nucleotide yuav ua loj mob hnyav kab mob - sickle cell anemia.

Tus kab mob yog manifested los ntawm qhov tseeb hais tias cov ntshav liab yog zoo li tus zoo li ib tug sickle. Raws li xws li, lawv tsis tau kom xa cov pa. Yog hais tias nyob rau cellular theem yog homozygous HbS / HbS mis, nws leads mus rau kev tuag ntawm ib tug me nyuam nyob rau hauv thaum ntxov thaum yau. Yog hais tias cov mis HbA / HbS, cov ntshav liab muaj ib tug tsis muaj zog hauv daim ntawv ntawm kev hloov. Qhov no hloov me ntsis yog ib pab tau zoo - kuj tau malaria. Nyob rau hauv cov teb chaws nyob qhov twg muaj ib tug uas yuav muaj kev cog lus malaria yog tib yam li nyob rau hauv lub txias ntawm Siberia, qhov kev hloov no muaj ib tug pab tau zoo.

Hloov ntawm amino acids tsis hloov

Nucleotide hloov tsis pauv ntawm cov amino acids yog hu ua seymsens change. Yog hais tias cov DNA cheeb tsam encoding lub "b" - Circuit Court yuav tsum tau hloov ntawm ib tug GAA gag, ces vim lub fact tias lub caj code yuav nyob rau hauv excess, glutamic acid replacements yuav tsis tshwm sim. saw qauv yog tsis tau hloov, lub erythrocytes yuav tsis muaj kev hloov kho.

Frameshift hloov

Cov noob noob yog txuam nrog ib tug kev hloov nyob rau hauv qhov ntev ntawm DNA. Length tej zaum yuav me me los yog loj dua, nyob ntawm seb lub poob los yog tas li ntawd ntawm nucleotide officers. Yog li, kiag li tag nrho cov qauv ntawm cov protein yog hloov.

Intragenic hluav tej zaum yuav tshwm sim. Qhov no tshwm sim tshwm sim thaum muaj ib qho chaw ob change uas pab kom txawm peem rau txhua lwm yam. Qhov no yog lub sij hawm ntawm kev koom nucleotide officers tom qab muaj ib tug tau ploj lawm, thiab vice versa.

dev paus change

Qhov no yog ib tug tshwj xeeb cov pab pawg neeg ntawm change. Nws tsis tshua muaj, nyob rau hauv nws cov ntaub ntawv, muaj cov tsos ntawm nres codons. Qhov no yuav tshwm sim ob leeg nyob rau hauv lub poob ntawm lub hauv paus officers, thiab nyob rau hauv lawv cov accession. Thaum twg muaj cov nres codons, lub polypeptides synthesis nres kiag li. Yog li yuav tsim ib tug thov allele. Nws yuav tsis phim ib tug ntawm cov proteins.

Muaj xws li ib tug tshaj plaws li intergenic hluav. Qhov no yog ib tug tshwm sim qhov twg lub hloov ntawm ib tug noob suppresses change nyob rau hauv lwm.

seb hloov kuaj thaum lub sij hawm cev xeeb tub?

Noob change txuam nrog kev hloov nyob rau hauv lub xov tooj ntawm chromosomes nyob rau hauv feem ntau tus neeg mob yuav tsum tau txiav txim. Yog xav paub seb cov me nyuam yug los tsis zoo nyob rau hauv txoj kev loj hlob thiab pathology, nyob rau hauv thaum ntxov lub lis piam uas cev xeeb tub (los ntawm kaum rau kaum peb lub lis piam) tshuaj soj ntsuam. Qhov no yog ib tug series ntawm tej yam yooj yim kev tshawb fawb: ib tug laj kab rau cov ntshav mus kuaj los ntawm tus ntiv tes thiab cov hlab ntsha ultrasound. Nyob rau me nyuam hauv plab ultrasound kho nyob rau hauv raws li qhov tsis muaj tag nrho cov extremities, qhov ntswg thiab lub taub hau. Cov tsis muaj nyob rau hauv ib tug muaj zog uas tsis yog raws kev cai qhia tias cov me nyuam muaj xws luag nyob rau hauv txoj kev loj hlob. Yuav kom paub meej tias yog tsis muab lub mob raws li nyob rau hauv cov kev tshwm sim ntawm ib tug mus kuaj ntshav.

Tsis tas li ntawd, nyob rau hauv ze kev saib xyuas ntawm cov kws kho mob yog yav tom ntej leej niam, cov me nyuam uas tej zaum yuav muaj ib tug kev hloov nyob rau kev tshuaj ntsuam genetic theem, yog pub. Hais tias yog, cov poj niam, txheeb ze ntawm cov uas twb mob ntawm ib tug me nyuam muaj kev puas hlwb los yog lub cev tsis taus, qhia Down syndrome, Patau thiab lwm yam kev tshuaj ntsuam genetic kab mob.