Sonke sinolwazi lwethu lwemfuza olugcinwe ngaphakathi kwiiseli zemizimba yethu. Kufana neencwadi kwithala leencwadi elikhulu. Ezi ncwadi sizibiza ngokuba zii-chromosomes. Sikhula nesiqingatha esivela kumama wethu nesiqingatha esivela kutata wethu. Kodwa khawucinge nje, ngamanye amaxesha amaphepha amabini ezi ncwadi ayakrazuka, kwaye iphepha elivela kwenye incwadi linamathela kwelinye, kwaye iphepha elivela kwenye incwadi linamathela kule ncwadi. Yiyo loo ndlela esiyibiza ngayo i-translocation kwezonyango xa iinxalenye zee-chromosomes ezimbini ziqhekeka kwaye zitshintshelana. Musa ukoyika xa usiva eli gama. Abantu abaninzi banokuba nalo, kwaye basenokungazi nokuba liyintoni na. Masibone ukuba liyintoni ngokwenene.
Yintoni le nguqu yemfuza ebizwa ngokuba yiTranslocation?
Ngamafutshane, i-translocation lutshintsho kwisakhiwo see-chromosomes. Oku kwenzeka xa isiqwenga se-chromosome enye siqhekeka size sinamathele kwenye i-chromosome. Ngamanye amaxesha, isiqwenga esaphukileyo se-chromosome yesibini sinokunamathela kweyokuqala.
Ngaphakathi kwi-nucleus yeseli nganye yethu, kukho ii-chromosomes ezingama-23. Ezo zizonke zii-chromosomes ezingama-46. Kula, ii-chromosomes ezingama-22 zilawula zonke ezinye iimpawu zomzimba (ii-autosomes), ngelixa isibini sokugqibela simisela isini sethu (ii-chromosomes zika-X no-Y).
Ukudluliselwa kwesakhiwo kunokwahlulwahlulwa zibe ziintlobo ezimbini eziphambili:
1. Ukutshintshwa kweechromosome ezimbini ezahlukeneyo: Oku kulapho kutshintshwa iinxalenye zeechromosome ezimbini ezahlukeneyo. Khawuthelekelele isiqwenga sechromosome 7 sidluliselwa kwichromosome 21, kwaye isiqwenga sechromosome 21 sidluliselwa kwichromosome 7.
2. Ukutshintshwa kweRobertsonian: Oku kwenzeka xa i-chromosome enye inamathela ngokupheleleyo kwenye i-chromosome.
Ngoku kukho enye into ebalulekileyo. Ukuba la malungu ayatshintshwa, kodwa akukho lwazi lwemfuza olulahlekileyo okanye olufunyenweyo, silubiza ngokuba yiBalanced Translocation . Umntu onale nto uhlala engenazo iingxaki zempilo. Nangona kunjalo, ukuba ulwazi oluthile lwemfuza lulahlekile okanye lufunyenwe ngenxa yolu tshintsho, silubiza ngokuba yi-Unbalanced Translocation . Kulapho ke iingxaki ezahlukeneyo zempilo ziqala khona.
Ingaba kukutshintsha nje? Ezinye iinguqu ezinokwenzeka kwiichromosomes
Ukongeza ekufudukeleni kwenye indawo, kukho nezinye iinguqu ezininzi ezinokwenzeka kwisakhiwo see-chromosomes. Ezi zinokuphazamisa inkqubo yokuveliswa kweeproteni emzimbeni wethu kwaye zichaphazele ukusebenza kweeseli kunye nezicubu. Makhe sijonge ukuba ziyintoni na.
| Uhlobo lotshintsho | Kwenzeka ntoni nje |
|---|---|
| Ukucima | Inxalenye yechromosome iyaqhekeka ize isuswe. Oku kunokubangela ukulahleka kwezakhi zofuzo ezininzi okanye amakhulu emzimbeni. |
| Ukuphindaphinda | Inxalenye yechromosome ikopishwa kabini ngendlela engaqhelekanga, nto leyo enika ulwazi oluthe kratya ngemfuza. |
| Ukuguqulwa (ukujika inxalenye ijonge kwelinye icala) | I-chromosome iyaqhekeka kwiindawo ezimbini, ize loo nxalenye ijike ize inamathele kwakhona. |
| Ezinye iinguqu ezinzima | Utshintsho oluntsonkothileyo lunokwenzeka, olufana nee-isochromosomes (ii-chromosomes ezineengalo ezimbini ezifanayo) kunye nee-ring chromosomes (ii-chromosomes ezimile okweringi). |
Kubaluleke nini oku kufuduselwa kwenye indawo?
Kukho izigidi zeeseli emizimbeni yethu. Ukuba enye nje kwezi seli itshintsha ngolu hlobo, ayizukuba nampembelelo ingako. Loo seli isenokufa emva kwexesha elithile.
Nangona kunjalo, olu tshintsho lubaluleke kakhulu kwaye lubalulekile kuphela ukuba lwenzeka kwiqanda likamama (iqanda), isidoda sikatata (isidoda), okanye iseli yokuqala eyenziwe kukudibana kwezi zimbini (i-zygote).
Khawucinge nje, loo seli inye iyahlukana ize yahlukane ukuze yenze umntwana opheleleyo. Oko kuthetha ukuba yonke iseli emzimbeni womntwana inolo tshintsho. Kulapho izifo ezahlukeneyo ziqala khona ngenxa yokwanda okanye ukuncipha kolwazi lwemfuza.
Ngamanye amaxesha olu tshintsho lwenzeka emva kokuba umntwana ekhulelwe. Emva koko ezinye iiseli emzimbeni zinokuba zezesiqhelo kwaye ezinye iiseli zinokufuduselwa kwenye indawo. Oku sikubiza ngokuba yiMosaicism .
Makhe sijonge umzekelo wobomi bokwenyani.
Ukuze sikuqonde kakuhle oku, masithathe umzekelo. Khawucinge ukuba kukho umntu, masimbize ngokuba nguSunil. USunil akanaso isifo, usempilweni. Kodwa ukuba sijonga iijini zakhe, une-translocation elungeleleneyo phakathi kwee-chromosomes zakhe ze-7 kunye neze-21. Oko kuthetha ukuba iindawo zitshintshiwe, kodwa unalo lonke ulwazi olufunekayo lwe-genetic emzimbeni wakhe. Ke ngoko, akanangxaki.
Ingxaki ivela xa umntwana esenziwa. Xa isidoda senziwe emzimbeni kaSunil, iichromosome ziyahlukana. Apha, ngelishwa, isidoda esithile sinokuthwala ichromosome yesi-7 kunye nesiqwenga se-21st esiqhotyoshelweyo endaweni ye-7th chromosome eqhelekileyo. Kwangaxeshanye, i-21st chromosome eqhelekileyo nayo inokuya kuloo sperm.
Ngoku, kwenzeka ntoni ukuba esi sidoda sidibana neqanda eliphilileyo aze umntwana azalwe? Umama ufumana i-chromosome enye yama-21. Utata (uSunil) ufumana zombini i-chromosome eqhelekileyo yama-21 kunye nenxalenye ye-chromosome yama-21 enamathele kwi-chromosome 7. Emva koko, iiseli zomntwana zineenkcukacha ezintathu zemfuza ezinxulumene ne-chromosome 21. Yiloo nto siyibiza ngokuba yi-Down syndrome .
Ngoku uyaqonda ukuba umntu onesifo sokudluliselwa kwesisu esingalinganiyo angenza njani ukuba umntwana onesifo sokudluliselwa kwesisu esingalinganiyo, nokuba akanazo iimpawu?
Izifo ezinokubangelwa kukutshintshwa kwesifo
Kukho iimeko ezininzi eziphambili zempilo ezinokubangelwa kukutshintshwa kwesibeleko.
| Imeko yezonyango | Iikhromosomu ezinxulunyaniswa rhoqo kunye nenkcazo |
|---|---|
| I-Down syndrome | Le meko idla ngokubangelwa kukubakho kweekopi ezintathu zechromosome 21 endaweni yezimbini (iTrisomy 21). Nangona kunjalo, ipesenti encinci yamatyala ibangelwa kukutshintshwa kweseli. Eyona ixhaphakileyo kukutshintshiselana phakathi kweechromosome 14 kunye ne-21. Aba bantwana banokuba neengxaki entliziyweni, kwindlela yokugaya ukutya, nasemgogodleni. |
| I-Chronic Myelogenous Leukemia (CML) | Olu luhlobo lomhlaza wegazi. Lubangelwa kukudluliselwa phakathi kweechromosomes 9 kunye ne-22. Ichromosome entsha yama-22 eyakheka ngenxa yoko ibizwa ngokuba yiPhiladelphia chromosome.Oku kubangela ukuba kuveliswe i-enzyme engaqhelekanga, nto leyo ebangela ukuba iiseli zomhlaza zikhule ngendlela engalawulekiyo. |
| I-Lymphoma kunye nezinye iintlobo ze-leukemia | Ukudluliselwa kwezinye ii-chromosomes, ezifana nee-chromosomes 8 kunye ne-11, kunokubangela iintlobo ezahlukeneyo ze-leukemia kunye ne-lymphoma. |
Umyalezo Wokuya Ekhaya
- Ukutshintshwa kwesilwanyana kunokuba yingozi (kulinganiswe), okanye kunokubangela izifo ezinzulu (kungalingani).
- Ukuba une-translocation elinganayo, ungaphila ubomi obusempilweni. Iingxaki onokuba nazo kuphela xa unabantwana.
- Le meko isenokufunyanwa ngabazali, okanye ingakhula ngokutsha ngexesha lokukhulelwa.
- Akukho "nyango" lokutshintshwa kwesitho, kuba sikhona kuyo yonke iseli emzimbeni. Nangona kunjalo, izifo ezibangelwa yiso zinokunyangwa.
- Esi asisosifo sisulelayo. Unganxulumana nabanye abantu, ube nesondo, kwaye unikele ngegazi ngaphandle koloyiko.
- Ukuba kukho umntu kusapho lwakho onesifo esibangelwa lufuzo, okanye ukuba unamathandabuzo okanye imibuzo malunga noku, eyona nto ingcono onokuyenza kukubona ugqirha okanye ugqirha wakho nize nithethe ngaso.
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