Translocations Robertsonian: inkcazelo, iimpawu kunye neempawu

yonke umthamo genetic material ifakwe zonke 46 ngababini zofuzo. A chromosome yaziwa ukusuka eziphilayo, ezifumaneka esiseleni nucleus. Umntu enempilo uba karyotype-23 izibini zofuzo diploid. Leyo 46 XX - chromosome ukuseta abafazi kunye 46 XY - iseti eyindoda zofuzo. Xa aphule nawuphi na chromosome, i "umphathi 'olusisiseko ikhowudi yezofuzo, iintlobo ezahlukeneyo zokuphula zenzeka.

Izakhi into eyenzeka abantu. utshintsho ezincinane genetic material negalelo kwiyantlukwano ukwenza izinto zendalo. Xa ebizwa ngokuba elungeleleneyo utshintsho chromosomal kwazo lwenzeka ngaphandle ilahleko ulwazi ngaphandle ukuphindwa okungeyomfuneko. Kaninzi oku kwenzeka ngexesha meiosis (division chromosome), ukongeza, ngamanye amaxesha inxalenye zofuzo ziyaphindwa (phindwa kwenzeka), kwaye ke iziphumo ziba engalindelekanga. Kodwa siza kuqwalasela kuphela translocations Robertsonian, iimpawu zabo kunye neziphumo.

kwazo Robertsonian - ntoni na? iingxaki Genetic yesintu

Ngenxa uqhekeko le chromosome kufutshane centromere kukho utshintsho kumaziko ikhowudi yezofuzo yabantu. Umsantsa kusenokuba yinto enye, kodwa kuyenzeka kwaye kwakhona. Enye ingalo chromosome emva kwekhefu (ngokuqhelekileyo ingalo ezimfutshane) ilahlekile. Kodwa kufika kuzo zonke iimeko apho ikhefu lwenzeka ngexesha elinye zofuzo-2, iingalo ezimfutshane zazo uhlele. Ngamanye amaxesha, ukuba phantsi kwazo kuphela iindawo emagxeni. Kodwa ezinjalo ezingalweni ezimfutshane zofuzo acrocentric kwi uhlobo (apho centromere okuphosela chromosome kwi iingalo elide elifutshane kunye) abangeke bazenze inkcazelo ebalulekileyo. Ngaphandle ilahleko izinto ezinjalo ayibalulekanga kuba umbandela ilifa sikhutshelwe kwezinye izinto zofuzo acrocentric.

Kodwa xa Yazahlula ingalo elifutshane ihlanganiswa iingalo elifutshane omnye gene, kwaye ubude eliseleyo kwakhona soldered omnye komnye, a kwazo onjalo akusekho elungeleleneyo. Loo "ngokutsha" of genetic material - olu kwazo Robertsonian.

I uphando wayichaza olu hlobo kwazo W. Robertson ngo-1916. Kwaye igama lakhe kwathiwa kunye anomaly. kwazo Robertsonian kungakhokelela kuphuhliso imihlaza, kodwa kuchaphazela imbonakalo kunye nempilo yenethiwekhi. Noko ke, umntwana kwiimeko ezininzi, ukuba omnye umzali unalo kwazo, owazalwa abakhubazekileyo.

guquko Indlela eqhelekileyo?

Ngenxa uphuculo olwenziweyo kwezobugcisa kunye nophuhliso zemfuza njenge inzululwazi, namhlanje kusenokwenzeka ukuba ukwazi kwangaphambili ukuba kukho ukungaqheleki xa karyotype womntwana olungekazalwa. Ngoku kungenzeka ukuba afeze-manani: kangaphi kukho anomaly lwemfuzo? Ngokutsho data ekhoyo, translocations Robertsonian kwenzeka yanye kuzalwa amawaka. Kakhulu sivame ukuxilongwa kwazo of chromosome 21.

kwazo chromosomal ezincinane akukho isoyikiso kumphathi yayo. Kodwa xa kuchaphazela izinto ezibalulekileyo ikhowudi, umntwana azalwe ufile okanye ukufa kwiinyanga nje ezimbalwa, ezifana, ngokomzekelo, kunjalo le Patau syndrome. Kodwa Patau syndrome kwenzeka kunqabile kakhulu. Kwafa 1 ngo-15,000 ezizalwayo.

Imiba igalelo ukuvela kwazo ngo zofuzo

Kwindalo, kukho ukuguquka zidityaniswe, ukutsho oko, ama. Kodwa bume yenza izilungiso zalo kuphuhliso ufuzo. izinto ezininzi igalelo utshintsho lwaqho mutational. Ezi zinto kuthiwa mutagenic. Waziwa zinto zilandelayo:

• nefuthe iziseko nitrogen;
• biopolymers DNA uhlanga;
• bafayo ukusebenzisa utywala ngethuba lokukhulelwa;
• impembelelo iintsholongwane ngexesha lokukhulelwa.

Eyona kwazo eqhelekileyo kwenzeka ngenxa yeziphumo ezinobungozi radiation emzimbeni. Oku kuchaphazela imitha yelanga, protons ze-X-reyi, kwaye gamma.

Yeyiphi yaye zisenokutshintshwa chromosome?

Baye kwazo of chromosome 13, 14, 15 no 21. kwazo ithandwa kakhulu kwaye iyingozi - a kwazo Robertsonian phakathi zofuzo-14 no-21.

Ukuba ngenxa kweefom meiosis chromosome engaphezulu (trisomy) foetal kunye kwazo enjalo, umntwana oya kuzalwa kunye Down syndrome. Ityala efanayo kunokwenzeka ukuba Robertsonian kwazo yenzekile phakathi zofuzo-15 no-21.

Ukufuduselwa of chromosome band D

Robertsonian kwazo chromosome Group D kuchaphazela zofuzo kuphela acrocentric. Zofuzo 13 no-14 inxaxheba translocations ngo-74% yamatyala, yaye kuthiwa translocations esingangqinelaniyo, ezivame nemiphumo eyingozi ubomi abekho.

Noko ke, kukho enye imeko enokuthi ihambe okungahambi ezinjalo. kwazo Robertsonian 13, 14 abantu kungakhokelela ukuchuma kakuhle ophethe oyindoda (45 UX chromosome iseti). Ngenxa yokuba, ngenxa yokulahlekelwa iingalo zombini ezimfutshane endaweni izibini 2 zofuzo rhoqo kukho umntu eye elide ezimbini, gametes umntu onjalo akanako ukunika inzala iphila kuphela.

Le kwazo efanayo Robertsonian 13, 14 kwabafazi kuthoba isakhono layo ukuba nomntwana. Monthly kukho abafazi ezinjalo, kodwa kukho amaxesha xa uzale abantwana esempilweni. Kodwa izibalo zibonise ukuba kunqabile. Ngokusisiseko, abantwana babo azinakuphila.

Imiphumo translocations

Siye safumanisa ukuba amanye utshintsho kusakhiwo abasakwazi eqhelekileyo yaye musa ahlukumeze. iyunithi kwazo Robertsonian uzimisele kuphela uhlalutyo. Kodwa kwakhona kwazo kwi isethi isizukulwana esizayo zofuzo sele yingozi.

kwazo Robertsonian 15 no-21 ngo-kubanjiswene namanye utshintsho kwisakhiwo kusenokuba yingozi. Zonke neziphumo zotshintsho ezithile kumaziko karyotype kuchazwe kabanzi. Khumbula ukuba karyotype - oko sizalwa kwiseti ngamnye zofuzo nucleus.

Trisomy kunye kwazo

Ngaphezu koko translocations Genetics bodwa ukungaqheleki ezifana chromosome trisomy. Trisomy kuthetha ukuba karyotype ezingekazalwa umise omnye zofuzo triploid endaweni iikopi 2 maxa wambi kwenzeka trisomy emihle. Oko triploid isethi waphawula hayi kuzo zonke iiseli zomzimba.

Trisomy kudityaniswe kwazo Robertsonian kukhokelela ukuba nemiphumela emibi kakhulu: ezifana Patau syndrome, Edwards kokuhlambeleyo ngakumbi Down syndrome. Kwezinye iimeko, iseti mgceni kukhokelela isisu kwi usaqala.

syndrome Down kaThixo. kubonakaliswa

Kufuneka kuqatshelwe ukuba kwazo ezibandakanya zofuzo 21 no-22 abazinzileyo ngakumbi. mgaqweni enjalo akubulali, kodwa nesiqingatha iyabulala, kodwa kukhokelela nje abakhubazeke zophuhliso. Ngenxa yoko, trisomy 21 ezidityaniswe kunye kwazo Robertsonian kwi karyotype ekuhlalutyeni karyotype ezingekazalwa - i "umqondiso" Qiniseka Down syndrome, isifo yemfuza.

Down engqondweni iphawulwa zombini abakhubazeke ngokwasemzimbeni nangokwasengqondweni. Ipredikshini wobomi aba bantu sisihle. Nangona isifo sentliziyo kunye utshintsho komzimba kuphahla, kunye umzimba usebenza kahle.

Ezi mpawu uphawu le syndrome:

• ubuso flat;
• ulwimi landile;
• elininzi yesikhumba entanyeni, esiya ulisonge;
• clinodactyly (ugobile iminwe);
• epicanthus;
• isifo sentliziyo kunokwenzeka-40% yamatyala.

Abantu nalo syndrome kancinane ukuqala ukuya, ukuze bathi amagama. Kananjalo ukuba ukufunda kube nzima ngakumbi kunokuba abanye abantwana abaneminyaka efanayo.

Kodwa ayakwazi ukuba umsebenzi onemveliso ekuhlaleni kunye nenkxaso ekusebenzeni kahle kunye aba bantwana ukuba ayeba kakuhle kwixesha elizayo.

Patau syndrome

Lesi sifo ngaphantsi eqhelekileyo kwe Down syndrome, kodwa iziphene eendidi ezahlukeneyo kufuneka loo mntwana kakhulu kunene. Phantse 80% yabantwana nalo unesifo kufa kwisithuba sonyaka-1 ubudala.

Ngowe-1960 wafundela le anomaly kwaye wafumanisa ezibangela genetic ukusilela uKlaus Patau, nangona kuye 1657 wachaza syndrome T. Bartolini. Umngcipheko kwezi ukuphazamiseka yaligqiba abafazi azale umntwana emva kweminyaka 31.

Aba bantwana iziphene ezininzi emzimbeni kuhlanganiswa kunye nophuhliso kakhulu lengqondo. Uphawu le syndrome:

• microcephaly;
• izandla ezingaqhelekanga, ngokufuthi kwasekwa iinzwane engaphezulu;
• iindlebe iseti eliphantsi imilo enxamnye noko bekumiselwe;
• lip lips;
• intamo emfutshane;
• amehlo elimxinwa;
• ngokucacileyo "nechibi" ibhulorho;
• iintsilelo izintso nentliziyo;
• lip lips okanye inkalakahla;
• Pregnancy Kukho omnye kuphela umthambo yosana.

A Inani elincinane ukusinda iintsana uncedo lwezonyango. Yaye luyakwazi ukuphila ixesha elide. Kodwa mgaqweni bekhubazekile kunjalo kuchaphazela uhlobo yobomi koomofu yayo.

Edwards syndrome

Trisomy 18 chromosome kwazo kwisiqalo ikhokelela Edwards Syndrome. Esi sifo yaziwa kangako kakuhle. Nale isifo umntwana kunzima esifa iinyanga ezintandathu. umthetho zivunywa awuvumeli ukuba ukukhula kakhulu abakhubazeke ezininzi.

Ngokubanzi, inani neziphene ezahlukeneyo syndrome Edwards - malunga 150 zitya igazi malformations langoku, intliziyo, nezibilini. Uhlala kule iintsana hypoplasia ye kwiCerebellum. Kukho mgaqweni ngesakhiwo neminwe. rhoqo a anomaly ezikhethekileyo ezifana ivela njenge ukukhubazeka ngeenyawo.

Ziziphi iimvavanyo ukukhangela ukungaqheleki Esibelekweni?

Uhlalutyo karyotype xa kuyimfuneko foetal ukufumana izinto - iiseli Palsy.

ihlaziya eziliqela. Azenze ukuba kwenzeka njani.

1. kwesampulu chorionic villus. Uhlalutyo xa beneeveki ezili-10. Ezi villi - ezi ngumkhaya isuntswana ngqo. Le yamasuntswana izinto eziphilayo baya kukuxelela konke malunga nekamva iziqhamo.

2. Amniocentesis. Ngenxa inaliti sithathwa iiseli ezimbalwa ezalatha into, kunye fluid. Ziye ke zithathwe kakhulu kwiveki-16 zokukhulelwa, yaye emva kweeveki ezimbalwa, isibini eso asinakukwazi ukufumana inkcazelo eneenkcukacha malunga ntle yomntwana.

Kweli hlalutyo zithunyelwa ngoomama umngcipheko lokuhambisa umntwana abakhubazekileyo landa. Ngokuqhelekileyo Uhlalutyo genetic wayalela abo ngababini apho:

1) baba izisu kwenja;

2) isibini engekakwazi ukukhawula umntwana;

3) kwi intsapho uhlobo lonxibelelwano ezinxulumene ngokusondeleyo.

Aba bantu abatsha ukuze babe translocations Robertsonian kwezinye zofuzo. Kwaye ngoko ke kufuneka phambili ukwenza uhlalutyo kwi karyotype ukwazi oko amathuba ukuze ndithwale uzale nosana esempilweni.