Gene liphetoho liphatseng tsa lefutso li amahanngoa le liphetoho tse 'maloa e le sebōpeho sa chromosomes

Emetse tsoalo ea ngoana e - nako e molemo ea bakeng sa batsoali ba, empa e boetse e le mpe ka ho fetisisa. Ba bangata ba tšoenyehile ka hore ngoana a ka 'na a tla tsoaloa ba nang le bokooa leha e le efe,' meleng kapa ho holofala kelellong.

Saense ha e ema, e ka etsahala ho hlahloba ka lesea hanyane ka ho ima ho ba teng ha e sa tloaelehang ka ho ntshetsopeleng ya. Hoo e ka bang kaofela ha liteko tsena ka bontša haeba tsohle, ok le ngoana.

Ke hobane'ng ha batsoali ba tšoanang ka hlaha bana ba fapaneng ka ho feletseng - ngoana ka bophelo bo botle le ngoana ea nang le bokooa le? Ho hlalosa liphatsa tsa lefutso. Ha a hlaha immature lesea kapa ngoana le bokooa 'meleng ama liphetoho liphatseng tsa lefutso phatsa ea lefutso e amanang le liphetoho tse ka sebōpeho sa DNA. Re tla bua haholo ka seo. A re ke re boneng hore na sena se etsahala, ba bang ba liphetoho liphatseng tsa lefutso phatsa ea lefutso ke, 'me le lisosa tsa bona.

Ke seo phetoho liphatseng tsa lefutso?

Phetoho liphatseng tsa lefutso - ho fetola lisele fisioloji le tsa likokoana-hloko ka ho sebopehong DNA. Lebaka leo e ka 'na pepesehela (nakong ea bokhachane ke ke a nka litšoantšo tsa X-ray, bakeng sa tsoa likotsi' me fractures), mahlaseli mahlaseli (telele kgahlamelo ya maqhubu a letsatsi nakong ea bokhachane, kapa ho ba ea kamoreng ea ka e ne e akarelletsa mabone mahlaseli). Hape, liphetoho tse bang teng tsena ka ke oa fetisetsoa le futsitseng ho baholo-holo ba rōna. Kaofela ha bona ba arotsoe ka mefuta.

Gene liphetoho liphatseng tsa lefutso le liphetoho tse ka chromosome sebopeho kapa nomoro ya

Chromosomal phetoho liphatseng tsa lefutso - ka phetoho liphatseng tsa lefutso eo sebopeho le nomoro ya chromosomes fetotsoe. libaka Chromosomal 'na a oa kapa habeli, ba ile ba fallela le zounu nonhomologous, furalle ntho e tloaelehileng bakeng sa tse lekholo le mashome a robeli likhato.

Lisosa tsa jwalo phetoho liphatseng tsa lefutso - tlōlo tlas'a krossengovere.

Gene liphetoho liphatseng tsa lefutso tse amanang le ho fetola ho chromosome sebopeho kapa palo ea bona, ke sesosa sa maloetse a tebileng 'me mafu a ka lesea. mafu tsena ke le sa phekoleheng.

Types of liphetoho liphatseng tsa lefutso chromosome

mefuta e 'meli feela ea liphetoho liphatseng tsa lefutso tse kgolo chromosomal fapana: dipalo le mehaho. Aneuploidy - ke palo ea mefuta chromosomes, ke hore, ha liphetoho liphatseng tsa lefutso phatsa ea lefutso li amahanngoa le phetoho e palo ea chromosomes. Ke ho hlaha ha tse ngata le ho feta ya moraorao tjena, ho lahleheloa ke e 'ngoe ea tsona.

Gene liphetoho liphatseng tsa lefutso tse amanang le liphetoho tse ka sebopeho tabeng ea moo chromosome khefu, 'me hamorao o ile a boela a kopana, robang phetolo tloaelehileng.

Types of chromosome tlhamiwe

Ka palo ea liphetoho liphatseng tsa lefutso ka chromosome aneuploidy ea arolelana, mefuta e ke hore. Nahana ka lintlha tse ka sehloohong, fumana phapang.

• le trisomy

Le trisomy - ke ho hlaha ka karyotype ea e chromosome e eketsehileng. The atileng ka ho fetisisa ketsahalo - ke ho hlaha ha le chromosome mashome a mabeli-lekhetlo la pele. E ba le sesosa sa lefu Down, kapa, ha ba ntse ba e bitsa lefu - le trisomy ba chromosome mashome a mabeli-lekhetlo la pele.

Patau Syndrome e lemoha ke sometharo le ea leshome le metso e robeli ka chromosome fumanoa lefu Edwards. Ho tsohle autosomal le trisomy. trisomies tse ling ha li solofetsang, ba e-shoa le ka pōpelong, 'me e lahlehileng ha ho ntša mpa ho itlelang feela. Tseo batho ka bomong ba nang le eketsehileng ho kopanela liphate chromosomes (X, Y), - ea moshoelella. Ponahalo ea tleleniki ea liphetoho liphatseng tsa lefutso bo joalo ke e tlase haholo.

Gene liphetoho liphatseng tsa lefutso tse amanang le liphetoho tse ka linomoro etsahala ka mabaka a itseng. Le trisomy ho fetisisa ka etsahala hore ebe ho etsahala ha fapoha tsa chromosomes homologous ka anaphase (meiosis 1). Phello ea fapoha ena ke hore chromosomes bobeli oela feela e 'ngoe ea lisele tse peli morali,' me ea bobeli e feela.

Tlase ka tloaelo, ho ka ba bao e seng disjunction tsa chromosomes. ketsahalo ena e bitsoa ho tlōla le kganetsano pakeng chromatids khaitseli ea hae. E hlaha ka meiosis 2. Sena ke joalo ha chromosomes tse peli le tsoanang lula gamete mong, a etsa hore trisomic zygote. Nondisjunction le hlaha ka methati pele tsa lehe sithabetsa mosebetsing ona e se e kopana. Kahoo, clone lisele tse sehole e ka koahela karolo e kholoanyane kapa nyenyane ea dinama tse nyenyane tse ka. Ka linako tse ling o bontša ka boeona ea bongaka.

Batho ba bangata ba chromosome mashome a mabeli-lekhetlo la pele e amana le lilemo tsa mosali eo oa moimana, empa ntlha e ena ho fihlela kajeno ha se na bopaki bo hlakileng. Mabaka a ho se diverge chromosome, ba lule ba sa tsejoeng.

• monosomy

Monosomy bitsoa lebaka la ho hloka e 'ngoe ea autosomes ena. Haeba sena se etsahala, ka nako eo maemong a mangata ho ke ke ha khoneha ho beha litholoana, tsoalo ea pele ho nako etsahala ka mekhahlelo ba pele. Mokhelo - monosomy e loketseng ho chromosome mashome a mabeli-lekhetlo la pele. lebaka la hore ho na le ke monosomy ka 'na ba bao e seng disjunction tsa chromosomes, le tahlehelo ea chromosomes nakong anaphase tsela hae ho gorole le.

Ke monosomy ho kopanela liphate chromosomes diphetho ka lesea leo ka lona XO karyotype. Clinical ponahatso ea karyotype e - Turner lefu. liphesente tse mashome a robeli ba maemong tsoa lekholo ponahalo ea monosomy tsa X chromosome ke ka lebaka la ho tlōla meiosis lesea papa. Sena ke ka ntlha ya go nondisjunction X le Y chromosomes. Ha e le hantle, litholoana tsa XO karyotype bolaoa ka pōpelong.

Ho ea ka batho ba bong bo chromosomes le trisomy e arotsoe mefuta e meraro: 47 XXY, XXX 47, 47 XYY. lefu Klinefelter e ke le trisomy 47 XXY. Ka monyetla joalo karyotype ho beha ngoana arotsoe mashome a mahlano-mashome a mahlano. Sesosa sa lefu lena ka ba nondisjunction tsa chromosome X, kapa X le Y nondisjunction spermatogenesis. La bobeli le la boraro karyotypes ka feela etsahala e mong oa ba likete ba bakhachane, ba hoo e batlang e ha etsahala maemong a mangata, litsebi li fumanoa haholo ke hlaheloa ke kotsi.

• polyploidy

liphetoho liphatseng tsa lefutso ena phatsa ea lefutso e amanang le liphetoho tse ka sete haploid tsa chromosomes. lebokosana tsena ka imenne hararo 'me quadruple. Triploids ba ho fetisisa ka tloaelo fumanoe feela ha ho ne ho le ho ntša mpa ho itlelang feela. Ho 'nile ha Maemong a' maloa moo 'mè o ile a khona ho etsa ngoana joalo, empa kaofela ba ile ba shoa pele e fihla a le lilemo li' me khoeli. Mekgwa ya liphetoho liphatseng tsa lefutso phatsa ea lefutso boemong triplodii bakela le ho arohana feletseng tsa nondisjunction tsa disete chromosome ka lisele tse e motšehali kapa motona kokoana-hloko. Hape, mochine e ka 'na sebeletsa le peō habeli ya leheng. Tabeng ena, ho na le degeneration tsa placenta ho. tsoaloa bocha Sena se bitsoa ho ima molare. Ka tloaelo ho, liphetoho tsena lebisa tsoelo-pele ea lesea kelello le fisioloji maloetse, ho ntša mpa.

Eo liphetoho liphatseng tsa lefutso phatsa ea lefutso li amahanngoa le ho fetola sebopeho chromosome

Liphetoho mehaho ke ka lebaka la chromosomal khefu (fracture) chromosome. Ka lebaka la chromosomes tsena li amana, roba ponahalo ea hae pejana. diphetolo tsena ka 'na ba leka-lekanang' me e leka-lekaneng. E Leka-lekaneng na keketso kapa khaello ea lintho tse bonahalang, ha ho le jwalo ha ba bontšoa. Ba ka etsahala feela ka maemong tseo ho tsona ho-saeteng timetso ea chromosome e ne e le phatsa ea lefutso e ka tshebediso bohlokoa. Ka sete e leka-lekaneng diretswe go dira gametes a ka hlaha sa leka-lekanang. Ka lebaka la sena peō gamete ka etsa hore ho hlaha ha lesea le e sa leka-lekanang chromosome sete. Le sete ena le lesea e hlahisa 'maloa a malformations hlaha pathologies matla.

Types of diphetolo mehaho

Gene liphetoho liphatseng tsa lefutso etsahala boemong ba gamete sebopeho. Ho thibela mokhoa ona ka ho se joalo, kapa a ke ke a sebele kea tseba hore liphetoho tse bang teng joalo ka 'na etsahala. diphetolo mehaho na le mefuta e 'maloa.

• deletions

Phetoho ena ke e loketseng ho lahleheloa ke karolo ea chromosome. Hang lekhalo ena e ba e khutsoanyane chromosome, 'me karolo lona neelwe o lahlehile ka karohano ka ho eketsehileng ka seleng. deletions Interstitial - ho le joalo ha chromosome e mong o robehile ka libaka tse 'maloa. chromosomes tsena ke ka tloaelo ho hlahisa nonviable lesea. Empa ho na le Maemong a moo bana li ile tsa pholoha, empa ba na le lebaka la ena sete ya chromosomes ne Wolf-Hirschhorn lefu, "mohoo katse e."

• kopitsa

liphetoho liphatseng tsa lefutso phatsa ea lefutso tsena li etsahala ka boemo ba mokhatlo o hlophisitsoeng oa DNA habeli. Ha e le hantle kopitsa e ke ke sesosa sa tsela e sa tloaelehang joalo e baka deletions.

• translocation

Translocation le hlaha ka lebaka la ho ho fetiswa ha lintho tse bonahalang le liphatsa tsa lefutso ho tloha chromosome e mong ho e mong. Haeba ho na le ke otlile ka chromosomes 'maloa' me ba fapanyetsana likarolo, ho ba sesosa sa retsiproktnoy translocation. The karyotype tsa translocation ena e na le chromosomes mashome a mane a metso e tšeletseng feela. The translocation tšoanang haholo feela o ile a senola ka and analysis qaqileng le ho ithuta chromosomes.

Liphetoho ka tatelano nucleotide

Gene liphetoho liphatseng tsa lefutso tse amanang le ho fetoha ha a latellana joang nucleotide, ha a bontša hore ka phetolo ea sebopeho ea ba bang ba likarolo tsa DNA. Ke litla joalo phetoho liphatseng tsa lefutso li arotsoe ka mefuta e 'meli - ntle le foreime battlefield le battlefield. Ho tseba hantle hore na e etsa hore liphetoho tsa DNA, e ke ho hlokahala hore ho nahana ka e mong le e mofuta ka thoko.

Foreime battlefield phetoho liphatseng tsa lefutso, a se na

liphetoho liphatseng tsa lefutso phatsa ea lefutso tsena li amahanngoa le phetoho le Phetolo ya lipara botlaaseng ka sebopeho sa DNA. Ha substitutions joalo u se ke ua lahleheloa ke DNA bolelele, empa a ka lahleheloa ke le Phetolo ya-amino acid. Ho na le monyetla oa hore sebōpeho sa protheine e ho hlokomelwa, ho tla sebeletsa e le ea degeneracy ea khoutu liphatsa tsa lefutso. Nahana ka lintlha tse qaqileng tsa dikgetho bobeli: ho Phetolo a bile a sa substitutions amino acid e.

Phetoho liphatseng tsa lefutso ke tlosa amino acid

Tlosa e masalla amino acid e ka polypeptide bitsoa missense liphetoho liphatseng tsa lefutso. Ka haemoglobin molek'hule ho na le tse 'nè tsa batho liketane - tse peli "' me" (it e teng ka chromosome metso e tšeletseng), 'me tse pedi "e b" (Coding ka chromosome bolesometee). Haeba "e b" - mefuta e fapaneng ho tloaelehile, 'me ho na le tse makholo a mashome a mane le la botšelela la litlhaka kahare amino acid e ka sebopeho sa eona,' me ea botšelela ke glutamic, ea haemoglobin tloaelehileng. Tabeng ena, ea acid e glutamic ho khouthollotsweng GAA triplet. Haeba ka lebaka la ho liphetoho liphatseng tsa lefutso GAA GTA nkeloa sebaka, ho ena le asiti glutamic ka haemoglobin molek'hule thehoa valine. Kahoo, ho ena le haemoglobin tloaelehile HbA bonahala hbs hbs mong hemoglobin. Kahoo, tloswa ea acid e amino se le seng, 'me e nucleotide le' ngoe ho tla etsa hore e le tse tebileng haholo lefu - sekele seleng ea khaello ea mali.

Lefu lena le e bontšoa ke 'nete ea hore lisele tse khubelu tsa mali tse bōpehileng joaloka sekele e. Ka lebaka leo, ha ba khone ho hantle lopolla oksijene. Haeba ka phahameng ka ho lisele tse homozygous hbs hbs / hbs hbs moralo, ho e isa ho lefu la ngoana e ka bongoaneng ba pele. Haeba moralo HbA / hbs hbs, lisele tse khubelu ea mali ba le mofuta o fokolang oa phetoho. Ena phetoho hanyenyane ke le thuso boleng - ho hanyetsa malaria. Linaheng tseo ho tsona ho nang le kotsing ea ho kenwa ke malaria ho tšoana le ho a batang ea Siberia, phetoho ena e na le boleng bo molemo.

Phetoho liphatseng tsa lefutso tsa amino acid ntle Phetolo

Nucleotide substitutions ntle phapanyetsano ea-amino acid e bitswang seymsens liphetoho liphatseng tsa lefutso. Ha DNA sebakeng khouto ya ", b" - oa potoloho e tla nkeloa sebaka ka GAA GAG, ka nako eo ka lebaka la 'nete ea hore le khoutu liphatsa tsa lefutso e tla fetang, glutamic acid e nka sebaka ke ke etsahala. ketane sebopeho e sa fetoha, le erythrocytes ke ke ba diphetolo.

Frameshift phetoho liphatseng tsa lefutso

liphetoho liphatseng tsa lefutso phatsa ea lefutso tsena li amahanngoa le ho fetoha ha bolelele ba DNA. Bolelele e ka ba e nyenyane kapa e kholoanyane, ho itšetlehile ka ho lahleheloa kapa tlaleletsa ka nucleotide lipara. Kahoo, mohaho o ka ho feletseng sohle seo protheine e fetotsoe.

Intragenic hatelloang ka 'na etsahala. ketsahalo ena e etsahala ha ho na sebaka liphetoho liphatseng tsa lefutso tse peli hore buseletsa e mong le e tse ling. Ena ke nako ea ho busa le nucleotide lipara ka mor'a e 'ngoe e se e lahlehileng, le motlatsi le lengwe.

nang kelello liphetoho liphatseng tsa lefutso

Sena ke sehlopha se khethehileng sa liphetoho liphatseng tsa lefutso. Ke ka seoelo, haeba hae, ho na le ponahalo ea setopong codons. Sena se ka etsahala ka bobeli ka hore a shoeloe ke lipara botlaaseng, 'me ka kamohelo ea bona. Ha ho na le codons setopong, ho polypeptides tswakana khaotsa ka ho feletseng. Ka tsela eo a ka theha allele null. E ke ke ea tšoanang le leng e 'ngoe ea liprotheine e.

Ho na le ntho e kang hatelloang intergenic. Ena ke ketsahalo moo phetoho liphatseng tsa lefutso tsa phatsa ea lefutso e mong patelang batho ba liphetoho liphatseng tsa lefutso tse ling.

hore na liphetoho tse lemoha nakong ea bokhachane?

Gene liphetoho liphatseng tsa lefutso tse amanang le liphetoho tse ka palo ea chromosomes maemong a mangata ka ho ikemisetsa. Ho tseba hore na mefokolo ea tsoalo ka ho ntshetsa pele le bolwetse, ka libeke tse mathoasong a nako ea bokhachane (ho tloha ka libeke tse leshome ho leshome le metso e meraro) balletsweng screening. Sena ke letoto la dipatlisiso bonolo: lekhoakhoa ka disampole mali ho tswa ho monoana le mothapo oa ultrasound. Ka ultrasound maemong fetal tšoaroa ka ya ka entsprechen ea lipheletsong tsohle, nko le hlooho. entsprechen tsena ke ka matla bao e seng ho latelwa bontša hore lesea nang likoli ka tsoelo-pele. Ho netefatsa kapa latola phumano e thehiloeng diphetho tsa teko ea mali.

Hape, ba le tlas'a tlhokomelo ea haufi ea lingaka ke bo-'mè ba nakong e tlang, masea a ka 'na ba le phetoho liphatseng tsa lefutso boemong ba liphatsa tsa lefutso, e futsitseng. Ke hore, basali bao, beng ba tsona li neng li maemo a ngoana ea nang le bokooa ba kelello kapa ba 'mele, ka hlaloswang Down syndrome, Patau le mafu a mang liphatsa tsa lefutso.