Robertsonian translocations: tlhaloso, libōpeho le lintho tse khethollang

Moqolo eohle ea lintho tse bonahalang le liphatsa tsa lefutso kenyelletsoa ka bobedi bohle 46 ya chromosomes. chromosome A o tsejoa ho tswa ho baeloji, e fumanoang ka khubung seleng. Motho ka bophelo bo botle e na le karyotype tsa lipara tse 23 tsa chromosomes diploid phase. Ke 46 XX - chromosome beha basali le 46 XY - e motona sete ya chromosomes. Ha o roba chromosome, e leng motheo "mojari" ea khoutu liphatsa tsa lefutso, mefuta e sa tšoaneng ea ditlolo etsahala.

Liphetoho liphatseng tsa lefutso ha li buka e ikhethang ho batho. liphetoho tse nyenyane ka lintho tse bonahalang le liphatsa tsa lefutso li ka tlatsetsa hore ho fapafapana ea liponahatso tsa tlhaho. Ka seo ho thoeng ke e leka-lekaneng phetoho chromosomal translocation le hlaha kantle ho felloa ke lesedi le ka ntle ho kopitsa e sa hlokahaleng. Hangata ka ho fetisisa ena etsahala nakong meiosis (chromosome karohano), ho phaella moo, ka linako tse ling karolo ea chromosomes a ne a etsa likopi (kopitsa le hlaha), 'me joale ka liphello tse tsejoa esale pele. Empa re tla tšohla feela translocations Robertsonian, litšobotsi tse ba bona 'me liphello.

Robertsonian translocation - ke eng? mathata a liphatsa tsa lefutso ea moloko oa batho

Ka lebaka otlile ea chromosome e haufi centromere ho na le liphetoho tse mehaho ka khoutu batho liphatsa tsa lefutso. lekhalo ka 'na ba e le' ngoe, empa e se etsahala 'me hape. letsoho e mong oa chromosome ka mor'a khefu (hangata lekgutshwanyane letsoho) e lahlehile. Empa thulana mabokosana moo khefu le hlaha ka nako ya 2 chromosomes, matsoho a makhutšoanyane tse swapped. Ka linako tse ling, ba ile ba angoa ke ho translocation likarolo feela tsa lehetleng. Empa joalo matsoho a makhutšoanyane tsa chromosomes acrocentric ka mofuta wa (moo centromere arola le chromosome ka matsoho a nako e telele le tse kgutshwanyane) mohla tsoele lesedi bohlokoa. Ntle le ho lahleheloa ke thepa ea motheo e joalo e ke ke e le habohlokoa haholo hobane tse bonahalang lefa e kopitsoa ho chromosomes tse ling acrocentric.

Empa ha arohane e khutšoanyane letsoho fused le matsoho a makhutšoanyane la phatsa ea lefutso e mong, 'me bolelele setseng e hape soldered mong ho e mong, joalo ka translocation ha e sa leka-lekaneng. Joalo "rearrangement" ea lintho tse bonahalang le liphatsa tsa lefutso - ena ke Robertsonian translocation.

Ke batlisisitsoeng le o ile a hlalosa mofuta ona wa translocation W. Robertson ka 1916. Me lebitso la hae o ne a bitsoa le e anomaly. Robertsonian translocation ho ka etsa hore tsoelo-pele ea kankere, empa a ke ke a ama ponahalo le bophelo bo botle ba microcyteme le. Leha ho le joalo, ngoana maemong a mangata, haeba motsoali e mong o na le translocation, born nang le bokooa.

Kamoo li neng li atile phetoho liphatseng tsa lefutso?

Ka lebaka lintlafatso tsa theknoloji 'me tsoelo-pele ea liphatsa tsa lefutso e le saense e sa, kajeno hoa khoneha ho tseba esale pele ha ho na le tsela e sa tloaelehang ka karyotype ngoana e-s'o hlahe. Ke hona joale ka khona ho phetha dipalopalo: hangata hakae ho na le anomaly liphatsa tsa lefutso? Ho ea ka ya data jwale, translocations Robertsonian etsahala le mong ho ba le sa tsoa tsoaloa sekete. Ho fetisisa hangata e fumanoa translocation tsa chromosome 21.

Nyenyane chromosomal translocation ke feletseng ha ho kotsi ho mojari oa lona. Empa ha e ama likarolo tsa bohlokoa tsa khoutu ya, ngoana a ka 'na a tla tsoaloa bafu kapa shoa ka hare ho likhoeli tse' maloa, tse kang, ho etsa mohlala, ho le joalo ka ho lefu Patau. Empa Patau syndrome, le hlaha ka seoelo haholo. Kae-kae 1 ka tsoalo ea 15,000.

Lintlha tlatsetsang ho hlaha ha translocation e ka chromosomes

Ka tlhaho, ho na le ho itlelang feela phetoho liphatseng tsa lefutso, ke hore, unprovoked. Empa tikoloho etsa liphetoho ea eona e ho ntshetsopele ya liphatsa tsa lefutso. lintho tse 'maloa tlatsetsa khafetsa liphetoho mutational. lintlha tsena li bitsoa mutagenic. Tsejoa ke lintlha tse latelang:

• tshusumetso makalana nitrogenous;
• mojaki DNA biopolymers;
• mè noa joala nakong ea bokhachane;
• sephetho sa likokoana-hloko nakong ea bokhachane.

The translocation atileng ka ho fetisisa le hlaha ka lebaka la liphello tse kotsi tsa mahlaseli a 'mele. E ama mahlaseli mahlaseli, protons le X-ray, 'me ea gamma mahlaseli.

Eo angoa ke ho fetoha chromosome?

Feta translocation tsa chromosome 13, 14, 15 le 21. The ratoang ka ho fetisisa le e kotsi translocation - e translocation Robertsonian pakeng chromosomes 14 le 21.

Haeba ka lebaka la liforomo meiosis chromosome (le trisomy) fetal le translocation joalo, ngoana ea tlang ho tsoaloa le lefu Down. Tabeng e tšoanang ka etsahala haeba Robertsonian translocation e hlahile pakeng tsa chromosomes 15 le 21.

Translocation tsa chromosome sehlopha D

Robertsonian translocation chromosome Group D ama chromosomes feela acrocentric. Chromosomes 13 le tse 14 ba akarelletsa translocations ka 74% ea linyeoe, 'me li bitsoa translocations sa leka-lekanang, eo hangata liphello kotsi bakeng sa bophelo bo sa.

Leha ho le joalo, ho na le boemo bo mong le hore a ka tsamaea le anomalies joalo. Robertsonian translocation 13, 14 e leng banna ho ka etsa hore litsebeng tsoalo ea microcyteme motona (45 xy chromosome sete). Ka lebaka la 'nete ea hore, ka lebaka la ho lahleheloa ke liphaka bobeli lekgutshwanyane sebakeng sa lipara 2 ya chromosomes hangata e na le ke e' ngoe e nang le ba babeli ba nako e telele, diretswe go dira gametes motho ea joalo a ke ke a fana ka bana ba solofetsang feela.

E tšoanang Robertsonian translocation 13, 14 ka basali le ho fokotsa matla a ho ba le ngoana. Khoeli le khoeli ho na le basali joalo, 'me leha ho le joalo ho na le linako tse ling ha ba beleha bana ba phetseng hantle. Empa lipalo-palo e sa ntse e bontša hore ke ntho e sa tloaelehang. Ha e le hantle, bana ba bona ba sa ee solofetsang.

Liphello tsa ho translocations

Re ba fumane hore ba bang ba liphetoho mehaho di tloaelehile haholo 'me u se ke ua tšosa. Robertsonian translocation unit trust e ikemiselitse feela ke and analysis ena. Empa botjha translocation ka e behiloeng ea ho moloko o latelang ya chromosomes se kotsi.

Robertsonian translocation 15 le 21 ka kopanelo le liphetoho tse ling tse mehaho ba ka ba ba kotsi. liphello tsohle tse itseng liphetoho mehaho ka karyotype ho hlalosa ka ho qaqileng le ho feta. Hopola hore karyotype - ke ntho ea tlhaho ho sete motho ea chromosomes ka khubung ea.

Le trisomy le translocation

Ho feta moo translocations liphatsa tsa lefutso ka thōko sa tloaelehang tse kang e le trisomy chromosome. Le trisomy bolela hore fetal karyotype o behile e mong oa chromosomes triploid ho ena le likopi tse 2 ka linako tse ling le hlaha le trisomy litšoantšo. Ke triploid sete ya a re ke ke liseleng tsohle tsa 'mele.

Le trisomy kopantswe le translocation Robertsonian isang le liphello tse tebileng haholo: kang Patau lefu, Edwards le ho feta ho tloaelehile hore batho Down syndrome. Maemong a mang, e behiloeng ea anomalies isang senyeheloa ka mekhahlelo ba pele.

Fatše e lefu. liponahatso

Re lokela ho hlokomela hore translocation amang chromosomes 21 le 22 ba tsitsitseng haholoanyane. anomalies tse joalo hase bolaeang, ke se ke le makhatheng a ho bolaea, empa feela ho etsa hore le bokooa ntshetsopele. Kahoo, le trisomy 21 hammoho le translocation Robertsonian ka karyotype ka ho hlahloba fetal karyotype - e tiileng "pontšo" ea Down syndrome, lefu le liphatsa tsa lefutso.

lefu fatše e tšoauoa ka bokooa 'meleng le kelellong. Bolela lintho esale pele ba bophelo ba batho bana ba molemo. Ho sa tsotellehe lefu la pelo 'me ba bang liphetoho fisioloji ka masapo,' me 'mele ea bona e sebetsa ka tsela e tloaelehileng.

Litšobotsi bath ea syndrome, e reng:

• a bataletseng sefahleho;
• atolositsoeng puo ea;
• a mangata letlalo ka molaleng, ho ea mene;
• clinodactyly (kotlobane ea menoana ea);
• epicanthus;
• lefu la pelo ka etsahala ka 40% ea linyeoe.

Batho ba nang le lefu lena butle ho qala ho tsamaea, ho bua mantsoe a reng. Le hape ho ithuta ho le thata ho feta bana ba bang ba lilemo e tšoanang.

Leha ho le joalo ba ka khona ho etsa mosebetsi oo e behang sechabeng le ka ba bang ba tšehetsa le ho sebetsa ntle le bana bana ba ile ba ba hantle sebelisana nakong e tlang.

lefu Patau

lefu ke ka tlaase ho moo li neng li atile ho feta lefu Down, empa ka likoli tsa mefuta e sa tšoaneng ba le ngoana joalo haholo. Hoo e ka bang 80% ea bana ba nang le phumano ena shoa ka hare ho 1 selemo sa lilemo.

Ka 1960 o ile a ithuta anomaly ena 'me a fumana lisosa liphatsa tsa lefutso tsa ho hloleha Klaus Patau, le hoja ho eena ka 1657 o ile a hlalosa lefu T. Bartolini. Kotsi ea maloetse tsena e ile ea eketseha ka basali ba tsoala ngoana e ka mor'a lilemo tse 31.

Bana bana ba bangata ka likoli tse matla 'meleng ho kopantswe le ntshetsopeleng e matla psychomotor. Bath ea syndrome, e reng:

• microcephaly;
• matsoho e sa tloaelehang, hangata thehoa menoana e eketsehileng;
• tlaase litsebe tsa sete sebopeho kamehla;
• lefarung molomo;
• lekgutshwanyane molaleng;
• mahlo e moqotetsane;
• ka ho hlaka "sunken" borokho;
• likoli a liphio le pelo;
• lefarung molomo kapa mahalapa;
• Boimana Ho na le mothapo le 'ngoe feela lelana.

A palo e fokolang ea ho pholoha masea thuso ea meriana. 'Me ba ntse ba tla phela ka nako e telele. Empa anomalies congenital ntse ama mofuta oa bophelo le brevity lona.

lefu Edwards

Le trisomy 18 chromosome translocation ka morao isang Edwards Syndrome. lefu lena e ka tlase e tseba hantle. Le sena hlahloba ngoana batlang ho pholoha ho likhoeli tse tšeletseng. likoluoa tsa tlhaho kgetho molao ha a lumelle ho hōla haholo ba nang le bokooa tse ngata.

Ka kakaretso, palo ea kholofalo e fapaneng ka lefu Edwards - ka bang 150 ba teng le lijana malformations mali, pelo, litho tse ka hare. Kamehla o teng ho masea ana hypoplasia tsa cerebellum ena. Ho na le anomalies ea sebopeho ea menoana ea. hangata haholo le joalo anomaly ikhethang bonahala ka deformity maoto.

liteko life fumana tsela e sa tloaelehang ka ho utero?

Bakeng sa karyotype and analysis ka fetal hlokahala hore a fumane lintho tse bonahalang - lisele tse fetal.

ditshekatsheko 'maloa. Khantša moo e le hlaha.

1. chorionic villus mohlala. The and analysis ka libeke tse 10. Tsena villi - ke e tobileng phatsa placenta. phatsa ena ea lintho tse bonahalang tsa likokoana-hloko e tla bolella tsohle ka bokamoso ba litholoana.

2. Amniocentesis. Le nale e nkiloeng 'maloa lisele tse fetal, le mokelikeli amniotic. Ba ba isoa hangata ka beke 16 tsa boimana, 'me ka mor'a libeke tse' maloa, banyalani bao ba ka fumana boitsebiso bo qaqileng mabapi le bophelo bo botle ba ngoana.

On and analysis ena ba romeloa ho bo-'mè ba nang le menyetla ea ho fana ka ngoana ea nang le bokooa e ile ea eketseha. Hangata and analysis liphatsa tsa lefutso o ile a laela lipara ba eo:

1) e ne e le hlalosehe limpa;

2) para ya e sa khone ho emola ngoana;

3) ka lapeng le teng haufi-ufi amanang le ea puisano le tlhaho.

Batho bana ba bacha lilemong ba ka ba le translocations Robertsonian ba bang chromosomes. 'Me kahoo ba lokela ho tsoela pele ho ho etsa ka tlhatlhobisiso tse karyotype ea ho tseba seo ke menyetla ea ho etsa le ho beleha lesea le phetseng hantle.