Mutation vanhu. Chromosomal kunotouraya muvanhu

Mutation vanhu inomiririra kuchinja kuitika muchitokisi panguva DNA pamwero. Vanogona kuva mhando dzakasiyana. Mutation vanhu vanogona kuva kwavakarerekera. Muchiitiko chino, pane kufanana kuzvitsinhanisa nucleoid. Kuchinja zvinogona kukuvadza. Ivo vanoonekwa ne zvikuru phenotypic kushanda. Uyewo vanhu mutation angabatsira. Muchiitiko chino, vakachinja duku phenotypic kushanda. Next, ngatimboonai muudzame sei vanhu mutation. Mienzaniso kuchinja ichapiwa munyaya.

kupatsanura

Ziva rakasiyana-siyana kunotouraya. Mamwe Mapato vari, akavapindurawo, warwo kupatsanura. Zvikurukuru, pane zvinotevera kunotouraya:

• Somatic.
• Mashoko okutodza.
• Cytoplasmic.
• Genomic kunotouraya muvanhu uye dzimwe mhuka.

Kuchinja zviri kuitika pasi pokudzora siyana zvinokonzera. Rimwe pachena zviitiko kuchinja kwakadaro vaiona paChernobyl. Kunotouraya vanhu pashure njodzi akatanga kuonekwa pakarepo. Zvisinei, nokufamba kwenguva vakava yakawanda uye raidudzwa zvikuru.

Human chromosomal mutation

kuchinja aya ne STRUCTURAL abnormalities. The chromosome hwatsvuka kuitika. Vari pamwe yakasiyana rearrangements marongerwo. Nei kuine kunotouraya hwevanhu? Chikonzero ari zvimwewo zvinoitika:

• Mumuviri. Izvi zvinosanganisira wegamma uye maekisirei, ultraviolet dzokupisa, tembiricha (yakakwirira / pasi), kuti remagetsi munda, kumanikidzwa, uye zvichingodaro.
• Chemical. Izvi zvinosanganisira alcohols, cytostatics, weheavy metal munyu, phenols nezvimwe yeimwe.
• Biological. Izvi zvinosanganisira utachiona uye utachiona.

vaingoerekana kugadzirisa

Mutation vanhu iyi inomuka pasi kwomuzvarirwo ezvinhu. Zvisinei, kuchinja kwakadaro zvinowanikwa zvakasikwa zviri apo neapo: mamiriyoni 1 makopi imwe Gene 1-100 nyaya. Scientist JBS Haldane dzaona avhareji mukana wokuti vaingoerekana kuchinja. Raiva chizvarwa 5 * 10-5. Vaingoerekana budiriro kwacho kunobva kwokunze uye munyika zvinhu pamusoro - mutational kumanikidzwa svikiro.

mamiriro

Chromosomal kunotouraya vari kunyanya semhosva hunokuvadza. Pathologies zvinokura somugumisiro reorganizations, kazhinji haawirirani upenyu. Sezvo zvinhu zvechadenga chromosomal kunotouraya nyasha netsaona kuchinja. Nokuda kwavo akaumba akawanda matsva "mubatanidzwa". kuchinja aya reshaping majini basa, ugovere okunze ose genome netsaona. ukoshi hwavo adaptive kunotemwa wokusarudza kwacho.

Chromosomal kunotouraya: kupatsanura

Kune zvitatu kuchinja kwakadaro. Zvikurukuru, yoga ISO, inter- uye intrachromosomal kunotouraya. Last dzinoratidzwa abnormalities (aberatsiyami). Ivo vanozivikanwa mune gadziriro rimwe chromosome. Izvi boka kuchinja anosanganisira:

• Deletions. kunotouraya izvi zvinomiririra womukati kurasikirwa kana magumo chikamu chromosome. The kugadzirisa ichi mhando kunogona kukonzera yakawanda anomalies panguva embryo kukura (somuenzaniso, vachiberekwa mwoyo kuremara mhando).
• Inversion. kuchinja uku kunosanganisa majana ane chromosome chomudziyo kusvika 180 inegumi. uye kuisa pamusoro yaimbova. Panyaya iyi, sezvakarayirwa STRUCTURAL zvinhu raputsika, asi izvi hazvina chokuita phenotype, kana kusina zvimwe zvinhu.
• Duplications. Dzinomirira chokuwanziridza chromosome zveMagwaro. Kutsauka kwakadaro kubva ndozvakajairwa chinokurwadzai dzevanhu heritable kunotouraya.

Interchromosomal kugadziridza (translocations) vari vakatsinhanisa pakati zvemamiriro migove umo majini akafanana. kuchinja aya akakamurwa:

• Robertsonian. Aumbwa pachinzvimbo maviri okuteerera metacentric acrocentric okutodza.
• Nonreciprocal. Panyaya iyi, kubvongodzwa mugove mumwe chromosome kune mumwe.
• Itirana. Under rearrangements aya vakatsinhanisa pakati okunze maviri.

Izohromosomnye kunotouraya simuka nokuda paumbwe chromosomal makopi girazi nzvimbo vemamwe vaviri, ane imwe Gene pazvinhu. Kwakadaro yakatsauka kubva ndozvakajairwa kunotaurwa centric remubatanidzwa nokuda nezvokuti pamuchinjikwa chromatid kuparadzana kuitika nokuda centromere.

The marudzi Kuchinja

Kune STRUCTURAL uye kusanganiswa chromosomal kunotouraya. The yokupedzisira, akavapindurawo, akakamurwa aneuploidy (chitarisiko ichi (Trisomy) kana kurasikirwa (monosomy) dzokuwedzera okunze) uye polyploidy (kuti mudanga yakawedzera nhamba dzavo). Structural nokubatanidzwazve nechipiriso inversions, deletions, translocations, insertions, uye isochromosome centric zvindori.

The kukurukurirana dzakasiyana siyana rearrangements

Genomic kunotouraya kuchinja yakasiyana kwenhamba STRUCTURAL zvinhu. Gene kunotouraya vari hadzina kufambiswa zvakanaka marongerwo kwemajini. Chromosomal kunotouraya chokuita nemamiriro okutodza pachavo. Okutanga nookupedzisira, uyewo, vane kupatsanura kubudikidza polyploidy uye aneuploidy. Kugadzirisa Kuchinja pakati pavo munhu Robertsonian translocation. kunotouraya izvi ikashandiswa mugwara yakadaro, uye pfungwa somushonga "chromosomal abnormality". Zvinosanganisira:

• Somatic zvokurwara. Izvi zvinosanganisira nemwaranzi zvokurwara, somuenzaniso.
• Intrauterine zvirwere. Zvinogona kuva kwatangwa pamuviri, kupfupfudzika.
• Chromosomal zvirwere. Izvi zvinosanganisira chirwere cheDown syndrome, uye vamwe.

Pari, vanenge zana anozivikanwa anomalies. Vose vakanga vakadzidza uye kurondedzerwa. Sezvaratidzwa syndromes vanenge 300 siyana.

Zvinoumba vachiberekwa abnormalities

Nhaka kunotouraya dzinoturwa zvakaenzana dzakawanda. chikamu ichi kunoratidzwa vakawanda urema vari kukura. Akaumba somugumisiro kutyorwa rinonyatsooneka zvachinja DNA. Maronda munguva fertilization, gamete kuibvisa, kutanga nzendo kuparadzana zai. Kukundikana anogona kuitika kunyange kana kubatanidzwa nomumwe masero gwindiri nevabereki. Izvi ndizvo nhasi achiri hazvigoni kudzorwa uye haana vainyatsonzwisisa.

Zvakaipira Kuchinja

Matambudziko chromosomal kuno- touraya kuva vanoshorwa zvikuru kune munhu. Kazhinji hazvitsvaki:

• Muna 70% - vaingoerekana pamuviri.
• Malformations.
• At 7.2% - kubereka mwana akafa.
• The inotungamirwa anomera.

Tikafunga padanho chromosomal abnormalities maronda nhengo anokonzerwa siyana zvinhu: zvaimirirwa anomalies, kunyanya kana kukwana mashoko pachako chromosome, kwezvakatipoteredza ezvinhu, mashoko genotype yacho muviri.

pathologies mapoka

All chirwere chromosomal vanokamurwa muzvikamu zviviri. Chokutanga kutyora wakatsamwisa kwenhamba zvinhu. pathologies izvi zvinoumba unorema zvirwere chromosomal. Kunze trisomies, monosomy uye nezvimwe polysomes muboka iri zvinosanganisira tetraploidy uye triploidy (vafa rinowanikwa kana mudumbu kana ari maawa mashomanana okutanga pashure pokuberekwa). Kakawanda dzakaonekwa Down syndrome. Kwakavakirwa vaberekwe vakaremara. Syndrome inonzi pashure zita chiremba, uyo akarondedzera muna 1886. Parizvino, chirwere ichi ndicho kupfuura kudzidza ose chromosomal abnormalities. Abnormality kunoitika anenge mumwe kubva 700. Boka rechipiri rinosanganisira zvirwere zvinokonzerwa STRUCTURAL nokuchinja okutodza. Zviratidzo pathologies izvi zvinosanganisira:

• Growth retardation.
• Mental retardation.
• Roundness mhino.
• Deep ziso kumhara.
• Heart zvikanganiso (vachiberekwa) uye vamwe.

Zvimwe zvirwere zvinokonzerwa nokuchinja kwenhamba bonde okutodza. Varwere kunotouraya vakadaro havana vana. To musi, hapana dzakabudirira zvakajeka etiological kurapa zvirwere zvakadaro. Zvisinei, chirwere chinogona kudziviswa pachishandiswa pamuviri nechirwere.

Basa iri Kushanduka

Tikafunga raidudzwa kuchinja mararamiro kare zvinokuvadza kunotouraya zvinogona kubatsira. Somugumisiro kuchinja kwakadaro vanoonekwa kuti mashoko vakasarudzwa. Kana mutation haisi kukanganiswa ne "nyarara" DNA zvimedu kana iye chinokurwadzai kuti kuzvitsinhanisa mumwe kukamuka zvakafanana code, sezvinoita mutemo, hapana unooneka chero nzira iri phenotype. Zvisinei, kuchinja kwakadaro kunogona kuonekwa. Nokuti chinangwa ichi, nzira Gene kuongorora. Nokuda kuti kuchinja kuitika nokuda kuona zvakasikwa zvinhu, Saka, vachifungidzira kuti huru zvechadenga kwezvakatipoteredza inoramba kuzochinja, zvinoita sokuti kunotouraya kuonekwa inenge pane kugara kwenguva. Izvi zvinogona kushandiswa kudzidza phylogeny - iri kuongorora ukama uye kwakabva zvakasiyana taxa, kusanganisira murume. Maererano nokugadziridzwa uku "nyarara majini" murevereri nokuti vanotsvakurudza se "samolecular wachi." The dzidziso iri papfungwa yokuti vakawanda kuchinja kwavakarerekera. zvazvingava kwavo kuunganidza mune imwe jini simba kana zvachose yakazvimirira simba rwokuzvarwa vakasarudzwa. Somugumisiro yacho mutation inova kugara pamusoro kwenguva yakareba. Zvisinei, nokuti majini siyana kuchinyanya vachagara.

In mhedziso

The kudzidza mashandiro ose kuwanika pakuzadzisa pakati rearrangements iri mitochondrial deoxyribonucleic acid, izvo kutendeukira vana kuburikidza rwaamai mutsetse, uye muna Y-okutodza, vakapfuura kubva baba, rinoshandiswa zvikuru nhasi yakaringana shanduka zvipenyu. Aunganidzwa, anoongororwa systematized zvokuvakisa, tsvakurudzo zvabuda anoshandiswa muzvidzidzo pakati kwakabva siyana nemarudzi uye marudzi. Zvikuru kukosha ndiwo mashoko kurutivi vavakezve zvipenyu inotungamirwa uye kukura vanhu.