Gene kunotouraya chokuita nokuchinja nhamba uye mamiriro okutodza

Tichimirira kuberekwa kwomwana - yakanaka nguva yokuti vabereki, asi zvakaipisisa. Vazhinji vanonetseka kuti mwana anogona kuberekwa chero vakaremara, mumuviri kana urema chepfungwa.

Science haamiri vachiri, zvinokwanisika kunotarisa mucheche ari pamuviri kuvapo abnormalities kukura. Zvinenge zvose miedzo izvi zvinogona kuratidza kana OK zvose nemwana.

Nei vabereki chete vanogona kuzvarwa vana akasiyana zvachose - mwana utano uye mwana akaremara? It tsanangura magene. Pakuzvarwa saibva mwana kana mwana ane utano urema kukanganisa Gene kunotouraya chokuita nokuchinja sechivako DNA. Tichataura zvakawanda nezvazvo. Ngationei kuti izvi zvinoitika, vamwe Gene kunotouraya vari, uye avo zvinokonzera.

Chii chinonzi mutation?

Mutation - kuchinja mune vasiri uye chaivo masero ari DNA mamiriro. The chikonzero chingava nezvemidzimu (panguva pamuviri haagoni kutora mifananidzo X-ray, nokuti kukuvara uye mitswe), ultraviolet mwaranzi (refu zuva dzokupisa panguva pamuviri, kana ari pamwe zvaisanganisira ultraviolet mwenje nzvimbo). Uyewo, kuno- izvi zvinogona kutapuriranwa uye nhaka kubva madzitateguru edu. Vose vari rakakamurwa mhando.

Gene kunotouraya pamwe nokuchinja chromosome marongerwo kana nhamba

Chromosomal mutation - mumwe mutation umo marongerwo uye nhamba okutodza zvakachinja. Chromosomal nharaunda akawa kana kaviri, akatamira nonhomologous vematunhu, tendeukai kubva ndozvakajairwa kuti madhigirii zana namakumi masere.

The zvinokonzera rimwe mutation yakadaro - kutyorwa pasi krossengovere.

Gene kunotouraya chokuita nokuchinja chromosome mamiriro kana ravo uwandu, muri mhaka zvinetso zvakakomba uye nezvirwere mwana. zvirwere ava chisingarapiki.

Mhando chromosome kunotouraya

maviri chete mhando huru chromosomal kunotouraya akasiyana: kusanganiswa uye STRUCTURAL. Aneuploidy - ndiyo nhamba mhando okutodza, kureva, apo Gene kunotouraya chokuita nokuchinja kwenhamba okutodza. Ndicho kwaita zvakawanda neyokupedzisira, kurasikirwa pakati pavo.

Gene kunotouraya chokuita nokuchinja chivako panyaya apo chromosome rotonhorera, uye zvadaro zvakare, kutyora zvakajairika configuration.

Mhando kusanganiswa chromosome

By uwandu kunotouraya pamusoro chromosome aneuploidy mugove, kureva mhando. Funga chikuru, tsvaka mutsauko.

• Trisomy

Trisomy - ndiye chidzoke iri karyotype pamusoro dzimwe chromosome. The inonyanya chakajairika - ndiko kwaita maviri okutanga chromosome. Chinova chinokonzera chirwere cheDown syndrome, kana, sezvo ivo vanouti chirwere - Trisomy of maviri okutanga chromosome.

Patau Syndrome ari kuona nokuda nematatu uye namasere pamusoro chromosome chirwere Edwards syndrome. Zvose autosomal Trisomy. Other trisomies havasi chine musoro, Vanofa mudumbu, uye yaenda apo kwatangwa pamuviri. vanhu avo vane mamwe pabonde okutodza (X, Y), - kutsigira. The kunotoda kuratidza kunotouraya dzakadaro yakaderera chaizvo.

Gene kunotouraya chokuita nokuchinja nhamba kuitika nezvikonzero chaizvo. Trisomy unganyanya kuitikira kana siyana pamusoro okutodza homologous mu anaphase (meiosis 1). Mugumisiro ichi siyana ndechokuti okutodza achawira chete muna mumwe maviri masero mwanasikana, uye wechipiri chinhu.

Zvishoma kacho, zvingava asiri disjunction okutodza. Fani iyi inonzi kutyorwa kupokana hanzvadzi chromatids. It unowanikwa meiosis 2. Izvi ndozvazvakaita apo vaviri akafanana okutodza vagara imwe gamete, zvichikonzera trisomic zygote. Nondisjunction rinowanikwa pakutanga nzendo zai unorema muitiro kuti yave nourume. Saka, munhu clone mutant masero chinogona kufukidza yakakura kana maduku ari chikamu tishu. Dzimwe chinoratidza pacharo akaora.

Vakawanda maviri okutanga chromosome Rinobatanidzwa ne makore mukadzi nepamuviri, asi chinhu ichi kusvikira nhasi hakuna uchapupu hwakajeka. Zvikonzero kwete diverge chromosome, asingazivikanwi.

• monosomy

Monosomy akadana kushaya chero autosomes. Kana izvi zvaitika, ipapo Kazhinji hazvibviri zvibereko, vakurumidze kuzvarwa kuitika mukutanga nezvishoma. Kunze - monosomy nokuda maviri okutanga chromosome. Chikonzero kuti pane monosomy anogona asiri disjunction okutodza, uye kurasikirwa okutodza panguva anaphase nzira yake kuna keji.

By monosomy dzepabonde okutodza kunoguma fetus umo XO karyotype. Clinical nekuratidza karyotype - Turner syndrome. Makumi masere muzana dzokushungurudzwa kubva zana pakuonekwa monosomy pamusoro X chromosome imhaka kutyora baba meiosis mwana. Izvi imhaka nondisjunction X uye Y okutodza. Zvikurukuru, muchero XO karyotype anourayiwa mudumbu.

Maererano bonde okutodza Trisomy rakakamurwa mhando nhatu: 47 XXY, XXX 47, 47 XYY. Klinefelter kuti chirwere ndiye Trisomy 47 XXY. Yakadaro karyotype mukana kubereka mwana yakakamurwa mashanu mashanu. Chinokonzera chirwere ichi chinogona kuva nondisjunction pamusoro chromosome X, kana X uye Y nondisjunction spermatogenesis. The karyotypes wechipiri uye chechitatu zvinogona chete kuitika mune imwe zviuru zvevakadzi pamuviri, havana kushanda regai kuitika kazhinji, nyanzvi akawana zvikuru netsaona.

• polyploidy

Izvi Gene kunotouraya chokuita nokuchinja mune haploid yakatarwa okutodza. Kits izvi zvinogona katatu uye quadruple. Triploids kunge anowanzodanwa chirwere chete apo paiva kwatangwa pamuviri. Pane akawanda zviitiko apo amai vakakwanisa kuita mwana akadaro, asi ivo vose vakafa asati asvika zera uye mwedzi. Zvigadziriswe kuti Gene kunotouraya kana triplodii kukonzera uye yokupararira nondisjunction kuti chromosome seti kana munhukadzi kana munhurume utachiona masero zvakakwana. Uyewo, kuti mashandiro anogona kushanda muchangosangana kaviri zai. Muchiitiko chino, pane degeneration yacho placenta. kuberekwazve iyi inonzi matadza pamuviri. Kazhinji, kuchinja izvi kutungamirira kukudziri- mwana pfungwa vasiri kwepfungwa, pamuviri.

Izvo kunotouraya Gene pamwe nokuchinja chromosome mamiriro

The STRUCTURAL Kuchinja migumisiro chromosomal yemasikati (kutsemuka) chromosome. Somugumisiro okutodza idzi zvakabatanidzwa, nokuputsa vakambodanana chitarisiko. okunatsiridza izvi zvingava kunyanyisa uye pakati nepakati. Pakati Nepakati havana nderwevaya kana kuperevedza zvinhu, zvisinei haana kuratidzwa. Vanogona kuitika chete idzodzo zviitiko apo pamusoro-nzvimbo kuparadzwa chromosome raiva Gene kuti ndivo vakuru kukosha. Nemwero akagadzirwa gametes kuonekwe kunyanyisa. In mugumisiro ichi gamete muchangosangana kunogona kukonzera nezve mudumbu ane kudzikama chromosome yakatarwa. With ichi yakatarwa fetus inoverengeka malformations kuonekwa kwazvo pathologies.

Mhando STRUCTURAL okunatsiridza

Gene kunotouraya kuitika padanho gamete inotungamirwa. Kuti izvi zvisaitika muitiro asingagoni, kana usingagoni muchaziva kuti kuno- akadaro kunogona kuitika. Structural okunatsiridza vane mhando dzakawanda.

• deletions

kuchinja uku imhaka kufirwa chikamu chromosome. Kamwe pakakoromoka ichi kunova mapfupi chromosome, uye ayo akatsaura chikamu akarasika mune zvimwe muchitokisi kupesana. Interstitial deletions - zvakadaro kana mumwe chromosome wakaputsika munzvimbo dzakawanda. okutodza ava yemanyorero kubudisa nonviable mudumbu. Asi pane zviitiko apo vana achiripo, asi vane nekuda yakatarwa ichi okutodza akanga Wolf-Hirschhorn chirwere, "katsi kuti kuchema."

• kuburitsa mufananidzo

Izvi Gene kunotouraya kuitika padanho sangano DNA kaviri. Kumboda kuburitsa mufananidzo haagoni kuva kukonzera abnormalities zvokuti anokonzera deletions.

• translocation

Translocation kunoitika nokuda kuchinjwa masero acho kubva rimwe chromosome kune mumwe. Kana pane atsamwira mu okutodza akawanda uye ivo kuchitsinhanisa zvikamu, inova chinokonzera retsiproktnoy translocation. The karyotype pamusoro translocation uyu chete makumi mana nematanhatu okutodza. The chaizvo chete translocation chete pachena tsanangudzo kuongorora uye kudzidza okutodza.

Kuchinja nucleotide kutevedzana

Gene kunotouraya chokuita nokuchinja mune nucleotide kutevedzana, kana yakaratidzwa dikidiki sechivako zvimwe zvikamu DNA. By vakadaro mutation Marwadzo akakamurwa mhando mbiri - pasina pepuranga kusuduruka uye kusuduruka. Kuziva chaizvo chii chinokonzera Kuchinja DNA, zvakafanira kuti funga mumwe mhando yoga.

Frame kusuduruka mutation, pasina

Izvi Gene kunotouraya chokuita nokuchinja uye yaitsiva chawo maviri ari DNA mamiriro. Kana vokutsiva akadaro musarasikirwe DNA urefu, asi inogona kurasika uye yaitsiva amino acids. Pane mukana kuti nemamiriro puroteni anodzokororwa, zvichaita kushumira sezvo degeneracy pakati majini remitemo. Funga mashoko ose nzira, ari yokutsiva uye pasina amino asidhi vokutsiva.

Mutation nokutsiva amino acids

Kutsiva chinhu amino iine acid Zvakasara polypeptide inonzi missense kunotouraya. Munguva Chizenga Morekuru pane ina dzevanhu ngetani - mbiri "uye" (riri mu nemitanhatu chromosome), uye vaviri "B" (Coding regumi chromosome). Kana "b" - zvisingatomboiti siyana, uye pane namakumi mana nerechitanhatu amino asidhi residues kwaro mamiriro, uye wechitanhatu ndiwo glutamic, kuti Chizenga kunowanikwa. Panyaya iyi, kuti glutamic asidhi kuti encoded Gaa triplet. Kana nokuda kunotouraya Gaa GTA kutsiviwa, panzvimbo glutamic asidhi ari Chizenga Morekuru akaumba valine. Saka, pane chakaipa Chizenga HbA rinowanika mumwe Chizenga HbS. Nokudaro, kuzvitsinhanisa mumwe amino acid, uye rimwe nucleotide achaita dzakakomba zvikuru chirwere - jeko muchitokisi kupererwa neropa.

The chirwere kunoratidzwa ndechokuti masero matsvuku eropa zvinoumbwa akafanana nejeko. Zvazvakadaro, havagoni kuti zvakanaka kununura oxygen. Kana panguva cellular pamwero vari homozygous HbS / HbS wevacheche, inotungamirira kurufu mwana muduku. Kana nzira HbA / HbS, masero matsvuku eropa vane simba chimiro yokuchinja. kuchinja uku zvishomanana chinhu chinobatsira unhu - kuramba marariya. Munyika idzodzo pane imwe ngozi makaita marariya kwakafanana muchando kweSiberia, kuchinja uku ane anobatsira unhu.

Mutation kuti amino acids pasina yokutsiva

Nucleotide vokutsiva pasina kupanana amino acids anonzi seymsens kunotouraya. Kana DNA nharaunda yeEncoding kuti "b" - redunhu ichatsiviwa mumwe Gaa GAG, ipapo nokuti kuti majini remitemo achava rakawandisa, glutamic asidhi kutsiva havagoni kuitika. cheni mamiriro haina kushandurwa, kuti erythrocytes haachazovipo okunatsiridza.

Frameshift mutation

Izvi Gene kunotouraya chokuita nokuchinja pakureba DNA. Length zvingava zviduku kana hombe, zvichienderana kurasikirwa kana kuwedzera nucleotide vaviri vaviri. Saka, mamiriro zvachose yose puroteni dzinoshandurwa.

Intragenic kudzvinyirira zvingaitika. Izvi zvinoitika kana pane nzvimbo kunotouraya maviri kuti ripa mumwe. Iyi ndiyo nguva kubatana nucleotide maviri pashure munhu akarasika, uye vakutarisire.

mashokonhando kunotouraya

Ichi rinokosha boka kunotouraya. Kashoma, paari, pane zvakafanana chemabhazi codons. Izvi zvinogona kuitika zvose kurasikirwa nechigadziko mbiri, uye accession dzavo. Kana pane vanorega codons, ivo polypeptides kwetunhu rinomira zvachose. Saka anogona kuumba null allele. harizovi kuwirirana mumwe mapurotini.

Pane here chinonzi intergenic kudzvinyirira. Ichi kutanga umo mutation mumwe Gene anovanza kunotouraya mune dzimwe.

kana kuchinja aonekwa panguva pamuviri?

Gene kunotouraya chokuita nokuchinja mune nhamba okutodza kakawanda kunogona tsunga. Kuti uzive kana pakupona kukura uye zvokurwara, mukutanga vhiki pamuviri (kubvira gumi kusvika gumi vhiki) ushandiswe kuongorora. Ichi dzinotevedzana nyore kuongorora: ruzhowa ropa ivhu kubva nomunwe uye tsinga Ultrasound. On fetus Ultrasound achibatwa maererano parameters pamusoro wamativi ose, mhuno uye musoro. parameters izvi vari simba isiri zvaidiwa zvinoratidza kuti mwana ane urema ari kukura. Kuti asimbise kana kuramba nechirwere kwakavakirwa migumisiro kuongororwa ropa.

Uyewo, pasi pedyo pokudzora vanachiremba vari vanaamai ramangwana, vacheche ndiani angava mutation panguva nemagene vanochiva nhaka. Kureva, vakadzi ivavo, hama zvakanga kacho mwana mupfungwa kana mumuviri vakaremara, rairatidza chirwere cheDown syndrome, Patau nezvimwe zvirwere magene.