Robertsonian translocations: tsananguro, zvinhu uye maitiro

The yose Vhoriyamu yokugara zvinhu achitaurwa nevanopinda zvose 46 yegwara okutodza. A chromosome zvinozivikanwa kubva zvipenyu, anowanikwa muchitokisi musimboti. Munhu utano ane karyotype 23 yegwara diploid okutodza. Ndicho 46 XX - chromosome kuisa vakadzi 46 xy - munhurume yakatarwa okutodza. Kana iwe kutyora ari chromosome, zvinokosha "wenhumbi" ari kuvabereki code,-siyana kutyorwa kuitika.

Kunotouraya havasi nemamwe kuvanhu. kuchinja Small mune magene zvinhu zvinoita kuti kusiyana kuratidzwa zvakasikwa. In anonzi akanaka chromosomal translocation shanduko kunoitika pasina kurasikirwa mashoko uye pasina basa kuburitsa mufananidzo. Kakawanda izvi zvinoitika panguva meiosis (chromosome nekupesana), mukuwedzera, dzimwe nguva chikamu okutodza vari kudzokororwa (kuburitsa mufananidzo kunoitika), uye ipapo nemigumisiro yacho nezvimwewo. Asi tichakurukura chete Robertsonian translocations, unhu hwavo uye migumisiro.

Robertsonian translocation - chii? matambudziko Genetic wevanhu

Nokuda kuti atsamwira vanhu chromosome pedyo centromere pane STRUCTURAL kuchinja majini dzevanhu remitemo. Pakakoromoka anogona kuva chete, asi zvinoitika uye zvakare. Imwe ruoko chromosome mushure kwemasikati (kazhinji pfupi ruoko) akarasika. Asi uyai mhiri zviitiko apo zororo kunoitika panguva imwe chete muna 2 okutodza, maoko pfupi zviri swapped. Dzimwe nguva, vari pasi translocation chete nhengo pamapfudzi. Asi zvakadaro maoko pfupi pamusoro acrocentric okutodza mune mhando (apo centromere rwokuyera chromosome pamusoro refu uye pfupi maoko) kumbobvira kutakura mashoko anokosha. Kunze kurasikirwa kwakadaro zvinhu hakusi kukosha kudaro nokuti nhaka zvinhu iri kutevedzerwa kune dzimwe acrocentric okutodza.

Asi kana akatsaura pfupi ruoko fused nezvombo pfupi imwe Gene, uye kureba asara ari soldered nepedyo, kwakadaro translocation hakuchina pakati nepakati. "Rearrangement" kwakadaro yokugara zvinhu - iri Robertsonian translocation.

I akaongorora uye akatsanangura kwakadai translocation W. Robertson muna 1916. Uye zita rake rainzi uye anomaly. Robertsonian translocation kungaita kuti pave nekenza, asi varege kukanganisa chimiro uye utano uyo akaendesa. Zvisinei, mwana kazhinji, kana mumwe mubereki ane translocation, akaberekwa vakaremara.

How zvakafanana mutation?

Nokuda kuvandudzwa zvemichina uye kukura genetics somunhu sainzi, nhasi zvinoita aizviziva kana paine abnormalities ari karyotype hwomwana asati aberekwa. Zviri ikozvino zvinogoneka kuita nhamba: kazhinji sei pane masero anomaly? Maererano ano data, Robertsonian translocations kuitika mune imwe kubva chiuru mucheche. Most kazhinji chirwere translocation kuti chromosome 21.

Small chromosomal translocation iri zvachose hapana ngozi mutakuri waro. Asi kana zvinokanganisawo chinokosha bumbiro, mwana anogona kuzvarwa akafa kana kufa mumwedzi mishomanana, yakadai, somuenzaniso, zvakaita kuti urwere Patau. Asi Patau chirwere kunoitika chaizvo kashoma. Pane 1 muna 15,000 kuzvarwa.

Zvinhu muve chidzoke mumwe translocation mu okutodza

Zvakasikwa, pane vaingoerekana mutation, kureva, unprovoked. Asi kwezvakatipoteredza anoita pachavo zvinhu ayo kukura genome. Zvinoverengeka pave kakawanda mutational kuchinja. Zvinhu izvi zvinonzi mutagenic. Anozivikanwa zvinhu zvinotevera:

• tinzwe nitrogenous pezvingoro;
• Mutorwa DNA biopolymers;
• rwaamai doro yaunodya panguva pamuviri;
• matambudziko utachiona panguva yepamuviri.

The inonyanya translocation kunoitika nokuda zvinokonzerwa nemwaranzi pamusoro muviri. Zvinokanganisawo ultraviolet nemwaranzi, protons uye maekisirei, uye wegamma mwaranzi.

Izvo inozviisa kuchinja chromosome?

Kumbotambudzika translocation pamusoro chromosome 13, 14, 15 uye 21. inonyanya kufarirwa uye ngozi translocation - munhu Robertsonian translocation pakati okutodza 14 uye 21.

Kana somugumisiro meiosis siyana zvimwe chromosome (Trisomy) fetus pamwe translocation kwakadaro, mwana achaberekwa pamwe Down syndrome. Chete nyaya zvinogoneka kana Robertsonian translocation kwakaitika pakati okutodza 15 uye 21.

Translocation kuti chromosome bhendi D

Robertsonian translocation chromosome Group D inobata chete acrocentric okutodza. Okutodza 13 uye 14 vanobatanidzwa translocations muna 74% nyaya, uye vari kunzi kunyanyisa translocations, izvo kazhinji ndivo migumisiro ngozi upenyu havasi.

Zvisinei, pane chimwe ezvinhu kuti aende anomalies akadaro. Robertsonian translocation 13, 14 varume kungaita kuti vakadhakwa kuorera gono akaendesa (45 xy chromosome yakatarwa). Nokuti kuti, nokuda kurasikirwa vaviri pfupi maoko pane 2 yegwara okutodza kazhinji kunongova chimwe ane mbiri refu, gametes munhu akadaro haagoni kupa zvimwe mwana.

Chete Robertsonian translocation 13, 14 vakadzi uye kunoderedza kukwanisa kwayo kuva nomwana. Monthly pane vakadzi vakadaro, asi pane dzimwe nguva yadzinobereka vana hwakanaka. Asi nhamba vachiri kuratidza kuti kashoma. Zvikurukuru, vana vavo havana musoro.

Zvakaipira translocations

Takaona kuti vamwe kuchinja STRUCTURAL vari zvakajairika uye hadzityisidziri. Robertsonian translocation hadzisisina atsunga chete kuongorora. Asi kunenge translocation ari yakatarwa pakati runotevera okutodza kare ngozi.

Robertsonian translocation 15 uye 21 pachiimbwa nevamwe kuchinja STRUCTURAL angatokwanisa nengozi. Zvose zvakaipira vamwe kuchinja STRUCTURAL ari karyotype anorondedzerwa zvizere. Yeuka kuti karyotype - payo tinoberekwa munhu yakatarwa okutodza mune mwoyo.

Trisomy uye translocation

Uyezve translocations genetics with abnormality akadai Trisomy chromosome. Trisomy zvinoreva kuti fetus karyotype akaisa rimwe triploid okutodza panzvimbo 2 makopi dzimwe nguva kunoitika wezvidimbu Trisomy. Ndizvo triploid yakatarwa kuchengetwa kwete masero ose muviri.

Trisomy pamwe Robertsonian translocation kunotungamirira dzakakomba zvikuru nemigumisiro: akadai Patau urwere, Edwards uye anonyanya Down syndrome. Mune zvimwe zviitiko, yakatarwa pakati anomalies kunotungamirira abva pamuviri mukutanga nezvishoma.

Down kuti syndrome. kuratidzwa

Zvinofanira kucherechedzwa kuti translocation chokuita okutodza 21 uye 22 vari yakatsiga zvikuru. anomalies akadaro haasi zvinouraya, havasi hafu-zvinouraya, asi kungoti kutungamirira urema zvokukura. Saka, Trisomy 21 akabatana ane Robertsonian translocation ari karyotype iri Kuongororwa fetus karyotype - yechokwadi "chiratidzo" chokuvapo syndrome, majini chirwere.

Down kuti chirwere kunoratidzwa mumuviri nomupfungwa nokuremara. Kufembera upenyu vanhu ava akanaka. Pasinei chomwoyo uye vamwe vasiri zvachinja marangwanda, uye muviri wavo uri kushanda zvakanaka.

The maitiro zviri urwere:

• sandara chiso;
• awanda rurimi;
• yakawanda ganda pamutsipa, kuenda peta;
• clinodactyly (curvature pakati nemimwe);
• epicanthus;
• mwoyo chirwere zvinogoneka muna 40% nyaya.

Vanhu vane chirwere ichi zvishoma nezvishoma vanotanga kuenda, kutaura mashoko. Uyewo kuudzidza akaoma kupfuura vamwe vana vezera.

Asi ivo vanokwanisa basa rinobatsira munzanga uye vamwe rutsigiro uye zvakakodzera kushanda nevana ava vari zvakanaka socialized mune ramangwana.

Patau chirwere

The chirwere iri ishoma pane chirwere cheDown syndrome, asi zvikanganiso-siyana vane mwana akadaro kwazvo. Vanenge 80% vana vane chirwere ichi kufa mukati 1 gore zera.

Muna 1960 iye akadzidza anomaly ichi uye vawana majini anokonzera kukundikana Klaus Patau, kunyange kwaari 1657 akarondedzera chirwere T. Bartolini. Nengozi zvirwere izvi yakawanda vakadzi vanopa mwana pashure pemakore 31.

Vana ava zvenyama urema siyana pamwe zvikuru psychomotor kukura. Chakanangana urwere:

• microcephaly;
• maoko kanganisika, kazhinji kuumbwa nemamwe zvigunwe;
• mugari chimiro pasi yakatarwa nzeve;
• mumukaha muromo;
• Mutsipa pfupi;
• yakamanikana meso;
• zvakajeka "mungarava" zambuko;
• zvikanganiso itsvo nomwoyo;
• mumukaha muromo kana mukanwa;
• Pregnancy Pane imwe chete achiine rukuvhute tsinga.

A vashoma yokupona vachechewo zvokurapa rubatsiro. Uye vanogona kurarama kwenguva refu. Asi vachiberekwa anomalies vachiri kukanganisa chimiro upenyu yayo Kupfupika.

Edwards urwere

Trisomy 18 chromosome translocation necheseri kunotungamirira Edwards Syndrome. chirwere iyi hainyanyi kuzivikanwa. With ichi chirwere mwana haawanzotauri kupukunyuka mwedzi mitanhatu. rwokuzvarwa vakasarudzwa mutemo haabvumiri kukura substantially vakaremara akawanda.

Kazhinji, nhamba dzakasiyana zvikanganiso zviri chirwere Edwards - anenge 150 varipo midziyo malformations ropa, mwoyo, nhengo dzomukati. Nguva dzose aripo izvi vacheche hypoplasia yacho cerebellum. Kune anomalies pakati sechivako minwe. Kakawanda yakadaro nevamwe anomaly anooneka norutsoka wakarebesa.

Chii miedzo kuona abnormalities mu utero?

Nokuti karyotype kuongorora muna fetus zvakakodzera kuwana zvinhu - masero fetus.

Analyses Several. Jekesa kuti zvinoitika.

1. chorionic villus zvakabudiswa. The Kuongororwa pa vhiki 10. villi izvi - ndivo rakananga PARTICIPLE placenta. PARTICIPLE uku zvoutachiona zvinhu vachaudza zvose nezveramangwana muchero.

2. Amniocentesis. With tsono chinobviswa mashoma masero fetus, uye Líquido amniótico. Ivo vanobviswa kunyanya panguva vhiki 16 pamuviri, uye pashure pemavhiki mashomanana, vaviri vanogona uchida mashoko pamusoro mwana akadini.

On Ongororo iyi inotumirwa vanevana njodzi paakanunura mwana vakaremara zvakawedzera. Kazhinji majini ongororo akatungamirira maviri iwayo umo:

1) vaiva sezvisingatsananguriki pamuviri;

2) vaviri haana kukwanisa pamuviri;

3) mumhuri yaipinda kufanana kukurukurirana hunhu.

Ava vechidiki vanogona kuva Robertsonian translocations vamwe okutodza. Uye saka vanofanira mberi kuita ongororo pamusoro karyotype kuziva chii vari mikana kutakura uye kubereka mwana ane utano.