Phetoho liphatseng tsa lefutso tsa batho. liphetoho liphatseng tsa lefutso Chromosomal batho

batho ba phetoho liphatseng tsa lefutso emela liphetoho tse etsahalang ka seleng ka boemo ba DNA. Ba ka ba ba mefuta e fapaneng. Phetoho liphatseng tsa lefutso tsa batho ba ka ba ho se nke lehlakore. Tabeng ena, ho na le ho tsoana tloswa nucleoid. Liphetoho ho ka ba kotsi. Di tšoauoa ka e le hantle le matla haholo phenotypic. Hape batho ba phetoho liphatseng tsa lefutso le ka ba molemo. Tabeng ena, liphetoho na tse nyenyane phenotypic sebediswa. Joale, a re ke re hlahlobeng ka ho qaqileng haholoanyane ka moo phetoho liphatseng tsa lefutso tsa botho. Mehlala ea liphetoho tla fanoa sehloohong sena.

tlhophiso

Hlwaya mefuta e fapaneng ya liphetoho liphatseng tsa lefutso. Tse ling tsa dihlopha ba, le eena, tlhophiso ea habo eona. Ka ho khetheha, ho na le ba liphetoho liphatseng tsa lefutso tse latelang:

• Somatic.
• Chromosome.
• Cytoplasmic.
• liphetoho liphatseng tsa lefutso Genomic ka batho le mefuta e meng e.

Liphetoho li etsahala tlas'a tšusumetso ea lintlha tse sa tšoaneng. E mong oa mabokosana clearest la liphetoho tse joalo ho nkoa Chernobyl. Liphetoho liphatseng tsa lefutso tsa batho ka mor'a koluoa eo a qala ho hlaha hang-hang. Leha ho le joalo, ka mor'a nako ba ile ba fetoha ka ho eketsehileng phatlalatsoe.

Batho chromosomal phetoho liphatseng tsa lefutso

Liphetoho tsena li tšoauoa ka tsela e sa tloaelehang mehaho. The khefu chromosome li etsahale. Di tsamaya ka rearrangements fapaneng ka sebopeho sa. Ke hobane'ng ha ho na le liphetoho tse bang teng batho? Lebaka le leng ke ka mabaka a hlahang kantle:

• Meleng. Tsena li akarelletsa ea gamma le X-ray, mahlaseli kgahlamelo ya maqhubu a, mocheso (phahameng / tlaase), ea tšimo motlakase, khatello, 'me joalo-joalo.
• Lik'hemik'hale. Sena se akarelletsa ho alcohols, cytostatics, matsoai morethetho o boima, phenols le metsoako e meng.
• Likokoana-hloko. Tsena li akarelletsa libaktheria le likokoana-hloko.

tsosoloso itlelang feela

Phetoho liphatseng tsa lefutso tsa batho tabeng ena e hlaha ka tlas'a maemo a tloaelehileng. Leha ho le joalo, liphetoho tse joalo li fumanoa mofuta tse sa tloaelehang ka ho fetisisa: milione 1 likopi tsa itseng phatsa ea lefutso 1-100 Maemong a. Scientist JBS Haldane balwa monyetla karolelano ea phetoho itlelang feela. E ne e le moloko 5 * 10-5. Ho itlelang feela ntshetsopeleng thulaganyou e itšetlehile ka lintho tse ntle le ka hare - mutational khatello e mahareng.

tšobotsi

liphetoho liphatseng tsa lefutso Chromosomal ba hangata classified e le e kotsi. Pathologies hore ntshetsa pele ka lebaka la reorganizations, hangata lumellane le bophelo. E le litšobotsi tse motheo ea liphetoho liphatseng tsa lefutso chromosomal leeme ka phoso phetoho. Ka lebaka la tsona ha thehoa tse ngata tse ncha "a entseng selekane". Liphetoho tsena li reshaping mosebetsi phatsa ea lefutso, ho aba thepa ea motheo ho pholletsa le liphatsa tsa lefutso le ka tšohanyetso. bohlokoa ba 'ona etsehang ikemiselitse mosebetsing oa ho khetha.

Chromosomal liphetoho liphatseng tsa lefutso: tlhophiso

Ho na le dikgetho tse tharo bakeng sa liphetoho tse joalo. Ka ho khetheha, ka thōko mot, inter- le liphetoho liphatseng tsa lefutso intrachromosomal. Last tšoauoa ka tsela e sa tloaelehang (aberatsiyami). Ba ba khetholloa ka wa chromosome e le 'ngoe. liphetoho tse sehlopheng sena e kenyeletsa:

• Deletions. liphetoho liphatseng tsa lefutso tsena li emela ba tahlehelo ka hare tsa ka qetellong karolo e itseng ea chromosome e. The tsosoloso ea mofuta ona e ka etsa hore e ngata anomalies nakong embryonic ntshetsopeleng (ka mohlala, congenital pelo sekoli mofuta).
• Pitikololo. Phetoho ena e akarelletsa ho ba chenchana tsa chromosome sekhechana ho likhato tse 180. le ho beha eona ka sebaka sa pele. Tabeng ena, ka taelo ea thepa ea motheo mehaho e robehileng, empa sena ha se ame phenotype, haeba ho na le ho na le mabaka a eketsehileng.
• Duplications. Li emela atisiwa chromosome tsekoloha. Jwalo kheloha ho tswa tloaelehileng ea qholotsa batho heritable liphetoho liphatseng tsa lefutso.

Interchromosomal phetoho (translocations) di fanana pakeng tsa likarolo tsa likarolo tse ling tseo ka tsona liphatsa tsa lefutso ho na le tse tšoanang. Liphetoho tsena li arotsoe ka:

• Robertsonian. Ho thehoa ho ena le tse peli mamelwang chromosomes metacentric acrocentric.
• Nonreciprocal. Tabeng ena, ho fallela ha karolo e itseng ea chromosome e mong ho e mong.
• Karabo ya go arola. Tlas'a rearrangements tsena di fanana pakeng tsa likarolo tse peli.

Izohromosomnye liphetoho liphatseng tsa lefutso hlaha ka lebaka la hore ho thehoe likopi tse chromosomal tsa libaka seiponeng sa ba bang ba babeli, e leng ba le ho dikelaka phatsa ea lefutso e tšoanang. e kheloha ho joalo ho tloha ntho e tloaelehileng le eo ho buuoang centric komponeng ka lebaka la ha e le hantle le sefapano se chromatid karohano etsahalang ke centromere.

The mefuta e sa liphetoho

Ho na le mehaho le dipalo chromosomal liphetoho liphatseng tsa lefutso. qetellang ea, le eena, ba aroloa ka aneuploidy (ponahalo ea ena (le trisomy) kapa ke tahlehelo (monosomy) likarolo tse eketsehileng) le polyploidy (hore keketseho e lesaka ka palo ea tsona). Mehaho kopanngoa ha makala a hlahisa inversions, deletions, translocations, insertions, le isochromosome centric masale.

The sebelisana ya mefuta e fapaneng ya rearrangements

liphetoho liphatseng tsa lefutso Genomic ke liphetoho fapaneng ea lenane la thepa ea motheo mehaho. Gene liphetoho liphatseng tsa lefutso tse irregularities ka sebōpeho sa liphatsa tsa lefutso sa. liphetoho liphatseng tsa lefutso Chromosomal ama sebopeho sa chromosomes bona. Pele le sa ho qetela, le eena, a na le tlhophiso e tšoanang ke polyploidy le aneuploidy. Agiwa seswa ga setheo phetoho pakeng tsa bona ke Robertsonian translocation. liphetoho liphatseng tsa lefutso tsena li kopanngoa ka tsela e joalo, 'me khopolo ea moriana e le "chromosomal sa tloaelehang". Ho akarelletsa:

• Somatic malwetse. Tsena li akarelletsa mahlaseli bolwetse, ho etsa mohlala.
• mafu a Intrauterine. Ho ka ba ho itlelang feela ho ntšoa ha limpa, miscarriages.
• mafu Chromosomal. Tsena li akarelletsa Down syndrome, 'me ba bang.

Hona joale, ka lekholo tsebahalang anomalies. Kaofela ha bona ba ile ba ithuta 'me o ile a hlalosa. Ka syndromes bontša ka 300 liforomo.

Features ya tsela e sa tloaelehang congenital

liphetoho liphatseng tsa lefutso lefa di hlahiswa ka toka haholo. sehlopha sena e tšoauoa ka likoli tse ngata ka tsoelo-pele. Thehoa ka lebaka la ditlolo tsa liphetoho tse khōlō ka ho fetisisa DNA e. Diso etsahala nakong peō, gamete le nonofo ya mmele, methati ea pele ea karohano ea leheng. Hloleha ka etsahala esita le ha kopanngwe ho phethahetseng bophelo bo botle le ka liseleng tsa batsoali. Tšebetso ena ke kajeno ntse a ke ke a laoloa le ha ba utloisisoe ka ho feletseng.

Liphello tsa liphetoho

Mathata a ba liphetoho liphatseng tsa lefutso chromosomal le tšekamelo ea ho a sa thabiseng haholo ho motho eo. Hangata ba qholotsa:

• Ka 70% - itlelang feela ho ntša mpa.
• Malformations.
• Ka 7,2% - stillbirth.
• Sebopeho sa lihlahala.

Khahlanong le semelo sa boemo ba diso chromosomal tsela e sa tloaelehang ka ho makala le bakoang ke lintho tse ngata tse: mofuta oa anomalies, ka tsela e feteletseng kapa lekaneng lintho tse bonahalang e le chromosome motho, maemo a tikoloho, ho genotype ea phelang.

lihlopha pathologies

All lefu chromosomal li arotsoe ka mekhahlelo e 'meli. Pele ke tlōlo halefile palong ea metsoako. pathologies tsena etsa boholo ba mafu chromosomal. Ntle trisomies, monosomy le mefuta e meng ea polysomes sehlopheng sena kenyeletsa tetraploidy le triploidy (ka lefu la bona le hlaha ka ka pōpelong kapa ka lihora tse seng kae tsa pele ka mor'a tsoalo). Hangata ka ho fetisisa lemoha Down syndrome. E thehiloe ka likoli liphatsa tsa lefutso. lefu fatše e mong ea bitsoang ka mor'a hore lebitso la ngaka ea bana, ba hlalosa ka 1886. Hona joale, lefu lena ke ho fetisisa o ile a ithuta ea tsela e sa tloaelehang tsohle chromosomal. Sa tloaelehang le hlaha e ka bang ka mong ho ba 700. Sehlopha sa bobeli se akarelletsa mafu a bakoang ke liphetoho mehaho ka chromosomes. Lipontšo tsa pathologies tsena li kenyeletsa:

• Kgolo ya kholofalo.
• Kholofalo kelellong.
• Roundness nko.
• Tebileng leihlo lulisa.
• likoli pelo (congenital) le batho ba bang.

Ba bang ba mafu a bakoa ke phetoho e palo ea chromosomes ho kopanela liphate. Bakuli ba liphetoho liphatseng tsa lefutso jwalo na bana. Ho fihlela joale, ho na le ho na ho hlaka ntshetswa etiological kalafo ea mafu a joalo. Leha ho le joalo, lefu lena le ka ka thibeloa ka ho fumanoe prenatal.

Karolo e Phethoang ke ka ho iphetola ha lintho tsa

Khahlanong le semelo sa liphetoho lebisitsoeng ka maemo a ba liphetoho liphatseng tsa lefutso pele e neng e le kotsi e ka ba molemo. Ka lebaka la phetoho e joalo li nkoa e le lintho tse bonahalang bakeng sa ho khetha. Ha phetoho liphatseng tsa lefutso e sa angoa ke "khutsa" DNA likhechana kapa a qholotsa e tloswa e mong sekhechana amahanngoa code, e le busa, ha ho iponahatsa ka tsela leha e le efe phenotype ena. Leha ho le joalo, phetoho e joalo e ka fumanoa. Bakeng sa morero ona, mekgwa ya and analysis phatsa ea lefutso. Ka lebaka la 'nete ea hore liphetoho tse etsahalang ka lebaka la ho pepesehela lintlha tsa tlhaho, ka nako eo, ho nka hore litšobotsi tsa sehlooho tsa tikoloho e ntse e sa fetohe, ho bonahala eka liphetoho liphatseng tsa lefutso hlaha hoo e ka bang a sa le maqhubu a sa khaotseng. Ha e le hantle ena e ka sebelisoa ho ithuta phylogeny - the ho hlahloba kamano le tšimoloho ea taxa fapaneng, ho kopanyelletsa le monna. Mabapi le phetoho ena ka "khutsa liphatsa tsa lefutso" buella bafuputsi ba ka "oache ea limolek'hule." khopolo eo e boetse e thehiloe ho ha e le hantle hore boholo ba liphetoho tseo ba nke lehlakore. sekhahla ea bona ea ho bokella ka phatsa ea lefutso e itseng ea fokola kapa ka ho feletseng ikemetseng la tšusumetso ea khethong ea tlhaho. Ka lebaka la phetoho liphatseng tsa lefutso e ba kamehla ka nako e telele. Leha ho le joalo, bakeng sa liphatsa tsa lefutso tse sa tšoaneng e matla e tla nang le tsona.

Qetellong

Ho ithuta ka mochine oa ketsahalo, ntshetsopele eketsehileng rearrangements le ka acid e mitochondrial deoxyribonucleic, e sokolohela bana ka mohala mè, 'me ka Y-chromosomes, fetisoa ho tloha ho ntate, ho pharaletseng sebelisoa kajeno lekana thutong ea baeloji ho iphetola ha lintho. Bokella, hlahlobisisa le thepa systematized, liphetho tsa ho etsa lipatlisiso li sebelisoa lithuto tsa tsimoloho ea lichaba tse fapa-fapaneng le ba merabe. Le ea bohlokoa ho khetheha ke lesedi ikutloeleng ho tsosolosa ya sebopeho tsa likokoana-hloko le ntshetsopele ya moloko oa batho.