Ngamanye amaxesha ugqirha unokukuxelela ukuba kukho utshintsho oluncinci kwizakhi zakho zemfuza, olubizwa ngokuba yi-'Robertsonian Translocation'. Usenokoyika xa usiva la mazwi. Kuqhelekile ukucinga izinto ezinje, 'Ngaba esi sisifo esibi? Ngaba siza kuba yingxaki kubantwana bam?' Kodwa ungoyiki. Le yinto abantu abaninzi abayaziyo, kodwa kufanelekile ukuyazi. Le yimeko engaqhelekanga kakhulu, oko kuthetha ukuba ngokomyinge, ngumntu omnye kuphela kwabayi-900 onokuba nayo. Namhlanje, siza kuthetha ngayo ngendlela elula kakhulu, ngendlela onokuyiqonda.
Ngamafutshane, zithini ii-genes kunye nee-chromosomes?
Ngaphambi kokuba sikuqonde oku, makhe sijonge indlela eyenziwe ngayo imizimba yethu. Khawuthelekelele ukuba imizimba yethu yithala leencwadi elineshelufu enkulu yeencwadi. Yonke incwadi kweli thala leencwadi inemiyalelo eyasidalayo.
Ezi ncwadi zezo sizibiza ngokuba ziichromosomes kunyango. Ezi zezo zigcina lonke ulwazi lwethu lwemfuza - iseti yemiyalelo echaza yonke into ukususela kumbala weenwele zethu, umbala wamehlo, ubude, kunye nombala wolusu.
Ngokwesiqhelo, umntu ophilileyo unee-chromosomes ezingama-46. Kula ma-chromosomes, sifumana ezingama-23 kumama wethu kwaye ezinye ezingama-23 kutata wethu.
Ngoko ke kwenzeka njani oku kufuduka kweRobertsonian?
Kwii-chromosomes ezingama-46 emzimbeni wethu, ii-chromosomes eziyi-13, 14, 15, 21, kunye ne-22 zikhethekile kancinci. Zibizwa ngokuba zii-chromosomes ezi-acrocentric . Ezi chromosomes zinengalo enye 'emfutshane' kakhulu. Okubaluleke kakhulu, le ngalo imfutshane ayinalo phantse ulwazi lwemfuza oluyimfuneko ekusebenzeni komzimba wethu.
Ngoku, kwiRobertsonian Translocation, okwenzekayo kukuba iingalo ezimfutshane zeechromosomes ezimbini kwezintlanu ezikwi-acrocentric endizikhankanyileyo ngaphambili ziyaqhekeka, kwaye iingalo ezinde zezo chromosomes zimbini zinamathelana. Kufana nokuqhawula iziqwenga ezibini ezincinci zeentonga ezimbini uze uzisuse, uze uncamathisele iziqwenga ezibini ezinkulu eziseleyo. Emva koko ezo zingalo zimbini zincinci zingasebenziyo ziyaphela.
Xa iichromosomes ezimbini zidibene ngale ndlela, inani lilonke leechromosomes zomntu ngoku lingama-45, hayi ama-46. Kodwa akayi kuba neengxaki zempilo. Kuba ziingceba ezimbalwa ezincinci ezingenazo iijini ezibalulekileyo ezilahlekileyo.
Ngaba kukho iintlobo zezi?
Ewe, le meko inokwahlulwahlulwa ibe ziintlobo ezimbini eziphambili. Uza kuyiqonda lula ngokujonga le theyibhile.
| Uhlobo | Inkcazo |
|---|---|
| Utshintsho oluBalaseleyo lwaseRobertsonian (oluBalanced) | Abantu abanale meko abanazo iimpawu okanye iingxaki zempilo. Baphila ubomi obude nobusempilweni. Ixesha elininzi, abazi nokuba banayo. Aba bantu babizwa ngokuba 'ngabathwali' kuba abanayo le meko, kodwa banokudlulisela ebantwaneni babo. |
| Utshintsho lwaseRobertsonian olungalinganiyo (olungalinganiyo) | Kulapho ke iingxaki zinokuvela khona. Kulapho ke umntwana afumana khona izinto ezininzi kakhulu okanye ezincinci kakhulu zemfuza. Oku kudla ngokufunyaniswa emva kokuba umntwana ezelwe. Ngamanye amaxesha, nokuba iichromosomes zabazali ziqhelekile, le meko inokuvela ngelixa umntwana ekhula esibelekweni. Kunqabile kakhulu ukuba omnye wabazali abe ngumthwali kwaye umntwana anokuba nale meko. |
Umntwana uyifumana njani le meko njengelifa?
Xa umntu othwala iRobertsonian Translocation enomntwana nomnye umntu, ijini inokufunyanwa ngendlela ezintathu eziphambili. Khawuthelekelele ukuba nguwe othwala igciwane.
1. Umntwana ophilileyo ngokupheleleyo: Umntwana wakho angazuza iseti eqhelekileyo yeekhromosomu kuwe nakwiqabane lakho. Emva koko umntwana akayi kuba neengxaki zemfuza. Uya kuba sempilweni ngokupheleleyo.
2. Umntwana naye uza kuba ngumthwali: Umntwana, njengawe, unokufumana ilifa le-chromosome eguquliweyo kunye nee-chromosomes eziqhelekileyo. Emva koko umntwana akayi kuba neengxaki zempilo. Kodwa naye uza kuba ngumthwali njengawe kwixesha elizayo.
3. Imeko engalinganiyo: Kulapho umntwana efumana khona izinto zofuzo ezingaphezulu okanye ezingaphantsi. Umzekelo, umntwana unokufumana i-chromosome eqhelekileyo kunye ne-chromosome eyongezelelweyo. Oku kunokubangela ukuba umntwana abe neemeko ezithile zofuzo, ezifana ne -translocation Down syndrome okanye i-Patau syndrome . Nangona kunjalo, uhlobo kunye nobunzima bemeko buxhomekeke kwii-chromosomes ezifunyenweyo ngqo.
Ngaba kukho ezinye iingozi?
Ibhinqa elinokutshintshwa kwesibeleko saseRobertsonian linokuba sengozini yokuphuphuma kwesisu engaphezulu kancinci kuneqhelekileyo. Kwakhona, amanye amadoda anale meko anokufumana inani eliphantsi lesidoda okanye amandla aphantsi okuvelisa isidoda.
Ungayibona njani le meko?
Abantu abaninzi abazi ukuba banesi sifo. Bafumanisa kuphela ukuba baphunyelwe zizisu ngokuphindaphindiweyo okanye ukuba umntwana uzelwe enesimo semfuza. Emva koko ugqirha uya kuyalela uvavanyo ukuze afumanise ukuba sikhona na.
Uvavanyo lokufumanisa oku lulula kakhulu. Luvavanyo lwegazi olulula. Kuthathwa igazi elincinci kuwe kwaye iichromosomes ezikwiiseli zegazi zihlolwa phantsi kwe-microscope. Olu vavanyo lubizwa ngokuba yiKaryotyping . Emva koko kunokubonwa ngokucacileyo ukuba unazo zonke iichromosomes ezingama-46 ngokulandelelana, okanye ukuba unenye engaphantsi (45), kwaye nokuba kukho naziphi na iichromosomes ezinamathelene.
Ukuba uyazi ukuba kukho umntu kusapho lwakho onayo le meko yemfuza, ugqirha wakho unokucebisa ukuba wena neqabane lakho nivavanywe ngaphambi kokuba nizame ukuba nomntwana.
Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufumanisa ngale meko. Kodwa eyona nto ibalulekileyo kukufumana ulwazi olufanelekileyo kunye nokufuna iingcebiso zonyango ezifunekayo.
Umyalezo Wokuya Ekhaya
- Ukufuduselwa kweRobertsonian akusosifo esoyikwayo. Uninzi lwabantu abanaso (abathwali baso) basempilweni ngokupheleleyo kwaye baphila ubomi obuqhelekileyo.
- Eyona mpembelelo iphambili yoku kukubeka emngciphekweni wokudlulisela i-gene emntwaneni. Nangona kunjalo, nokuba ungumthwali walo mntwana, usenethuba elihle lokuba nabantwana abasempilweni.
- Ukuba uphunyelwa sisisu rhoqo, kunzima ukukhulelwa, okanye imbali yosapho lwakho yezifo zemfuza, kuya kuba bubulumko ukuthetha nogqirha wakho malunga nokufumana uvavanyo olufana ne-karyotyping.
- Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukubuza ugqirha wakho . Uza kukunika lonke ulwazi, iingcebiso, kunye neengcebiso zofuzo ukuba kuyimfuneko.
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