Xa sisiva igama elithi "uguquko," sicinga ngabalinganiswa abakwiimuvi zesayensi ezingeyonyani abanamandla angaqhelekanga, akunjalo? Kodwa eneneni, le yinto eqhelekileyo eyenzekayo ngaphakathi emizimbeni yethu ngamaxesha onke. Uninzi lolu tshintsho alubangeli monakalo, kodwa ngamanye amaxesha olu tshintsho luncinci lunokuba nefuthe elikhulu kwimpilo yethu. Ngoko ke ungakhathazeki, namhlanje siza kuthetha ngokuba zeziphi ezi nguqu, zeziphi iintlobo zazo ezimbini eziphambili, kunye nendlela ezichaphazela ngayo ubomi bethu.
Okokuqala, masibone ukuba yintoni i-DNA mutation.
Ukuze siqonde oku, kufuneka siqale siqonde ukuba yintoni i-DNA. Khawuthelekelele umzimba wakho njengesakhiwo esikhulu. Kukho incwadi enkulu yemiyalelo equlethe isicwangciso esipheleleyo sokwakha eso sakhiwo, oko kukuthi, indlela yokwakha igumbi ngalinye, indawo yokubeka iingcango neefestile, indlela yokwenza iingcingo, njalo njalo. Ngendlela efanayo, i-DNA "yincwadi yemiyalelo" exelela yonke iseli emzimbeni wethu indlela yokusebenza.
Xa kukho utshintsho kulwazi olukule ncwadi yemiyalelo olubizwa ngokuba yi-DNA, njengempazamo ebhalwe kwileta, silubiza ngokuba yi-mutation . Olu tshintsho ludla ngokwenzeka xa iiseli emzimbeni wethu zahlukana kwaye kwakheka iiseli ezintsha.
Into ebalulekileyo kukuba nangona kunokubakho amawaka ezi nguqu, okanye iinguqu, uninzi lwazo aluyichaphazeli impilo yethu. Nangona kunjalo, ezinye iinguqu zinokubangela iimeko ezahlukeneyo zemfuza.
Kukho iintlobo ezimbini eziphambili ze-mutations esithetha ngazo:
1. Utshintsho lwe-germline
2. Utshintsho lweSomatic
Utshintsho lwe-germline kunye ne-somatic: Yintoni umahluko phakathi kwezi zimbini?
La magama mabini asenokuvakala ngathi antsonkothile, kodwa eneneni alula kakhulu. Khawuthelekelele uza kwenza ikhekhe.
Ukuguquka kweGermline yinto eyenzekayo xa uxuba izithako ezisisiseko ezifana nomgubo, iswekile, kunye namaqanda kwikhekhe. Umzekelo, ukuba uxuba ityuwa encinci endaweni yeswekile, yonke ikhekhe oyenzayo iya kuba notshintsho olo. Kwaye ukuba uthatha iqhekeza laloo khekhe wenze enye ikhekhe (oko kukuthi, isizukulwana esilandelayo), olo tshintsho luya kudluliselwa nakwelo khekhe.
Ukuguquka kweSomatic kufana nokuba xa uxuba uze ubhake ikhekhe, kwaye isosi yetshokolethi encinci iwela kwindawo enye kwikhekhe. Umahluko ukho kuphela kuloo ndawo incinci kwikhekhe. Hayi ikhekhe liphela. Kwakhona, ukuba uthatha elinye iqhekeza laloo khekhe uze wenze elinye ikhekhe, isosi yetshokolethi ayiyi kuya apho iwele khona.
Makhe sijonge le theyibhile ukuze sichaze ngakumbi lo mahluko.
| Ingongoma yokuthelekisa | Utshintsho lweGermiline | Utshintsho lweSomatic |
|---|---|---|
| Olu tshintsho lwenzeka phi? | Kwiiseli zokuzala zabazali (oko kukuthi, kwidlozi lendoda okanye kwiqanda lomfazi). | Kuyo nayiphi na iseli yomzimba (kodwa kungekhona kwiiseli zokuzala). |
| Ingaba lufuzo? (Ilifa) | Ewe. Abantwana bazuza ilifa kubazali babo. | Hayi. Yinto eyenzekayo ngexesha lobomi bomntu. Ayizuzwa ngabantwana. |
| Kwenzeka nini oku? | Ngaphambi kokuba umntwana akhulelwe, kwiiseli zabazali. | Emva kokukhulelwa komntwana, nangaliphi na ixesha ebomini. |
| Indlela echaphazela ngayo umzimba | Olu tshintsho lukhona kuyo yonke iseli emzimbeni womntwana. | Lo mahluko ukho kuphela kwiiseli ezintsha ezahlukana kwiseli ebangele utshintsho. |
Utshintsho lweGermline kubunzulu obuncinci
Ngamafutshane, ezi zizizathu "zezifo ezidluliselwa lilifa." Ukuba kukho utshintsho (utshintsho) kwi-DNA yeqanda likamama okanye isidoda sikatata, xa elo qanda kunye nesidoda zidityaniswe zenze umntwana, yonke iseli emzimbeni waloo mntwana izuza olo tshintsho. Kuba olo tshintsho luvela kwiseli yokuqala. Yiyo loo nto ezinye izifo umntu okwintsapho enazo zinokwenzeka nasebantwaneni.
Utshintsho lweSomatic kubunzulu obuncinci
Ezi ziinguqu ezingacwangciswanga ezenzeka ebomini bethu bonke. Zininzi izizathu zoku. Umzekelo:
- Ukuchanabeka kwimitha ye-UV eyingozi evela elangeni.
- Ukutshaya.
- Ukuvezwa kwiikhemikhali ezithile.
- Impazamo engacwangciswanga eyenzekayo xa iiseli zahlukana.
Khawucinge ukuba iseli enye eluswini lwakho yonakaliswe lilanga kwaye inotshintsho oluncinci kwi-DNA yayo. Emva koko, xa loo seli yahlukana, zonke iiseli ezintsha ezizivelisayo zinotshintsho lwe-DNA. Ekuhambeni kwexesha, uninzi lwezi seli zitshintshileyo luyaqokelelana, ngamanye amaxesha zikhokelela kwiimeko ezifana nomhlaza wesikhumba. Kodwa olu tshintsho lukwindawo leyo yesikhumba sakho kuphela. Iiseli kwezinye iindawo zomzimba wakho azinalo olu tshintsho. Kwaye abantwana bakho abayi kulufumana njengelifa.
Zeziphi izifo ezinokubangelwa zezi nguqu?
Njengoko besitshilo ngaphambili, ayizizo zonke iinguqu ezibangela izifo, kodwa ezinye iinguqu zibangela iingxaki zempilo.
Izifo ezibangelwa kukuguquka kwezakhi zofuzo (ezizuzwe njengelifa)
Kukho amakhulu ezifo ezinjalo. Ezinye zezona zixhaphakileyo kuxoxwa ngazo zezi:
- Isifo seSickle Cell: Imeko ebangelwa kukutshintsha kwesimo seeseli ezibomvu zegazi.
- I-Cystic Fibrosis: Isifo esichaphazela imiphunga kunye nenkqubo yokugaya ukutya ngenxa yokuqina kwe-mucus (njenge-mucus) emzimbeni.
- Isifo sikaTay-Sachs: Isifo semfuza esonakalisa inkqubo yemithambo-luvo.
- Isifo sikaHuntington: Isifo apho iiseli zengqondo zitshatyalaliswa kancinci kancinci.
Izifo ezibangelwa kukuguquka kwesimo somzimba
Ngenxa yokuba ezi zenzeka ubomi bonke, uninzi lwazo ziintlobo zomhlaza.
- Umhlaza wolusu
- Umhlaza wemiphunga
- Isifo sikaMcCune-Albright
- Isifo seSturge-Weber
Ngaba kukho iimvavanyo zokufumanisa ezi nguqu?
Ewe. Uvavanyo lwemfuza lunokufumanisa olu tshintsho kwi-DNA. Ukuba umntu unembali yosapho lwezifo zemfuza, abazali banokwenza olu vavanyo ngaphambi kokuba babe nomntwana ukuze bafumane umngcipheko wokuba umntwana wabo afumane esi sifo ukuba unomntwana.
Kodwa ngaphambi kokuba uthathe isigqibo sokuba uza kwenza olu hlobo lovavanyo, iziphumo ziya kuba zeziphi, kwaye uza kujongana njani nalo, kubaluleke kakhulu ukuthetha nogqirha wakho kwaye ufumane icebiso elifanelekileyo kuye.
Ngaba singazithintela iinguqu?
Lo ngumbuzo obaluleke kakhulu. Impendulo kufuneka inikwe ngamacandelo amabini.
1. Utshintsho lwe-germline (oluzuzwe njengelifa): Asinakuyithintela le nto kuba izuzwe njengelifa kubazali bethu. Nangona kunjalo, uvavanyo lwe-genetic lunokunceda ekuchongeni umngcipheko kwangethuba kwaye lwenze izigqibo ngokufanelekileyo.
2. Utshintsho lwe-Somatic (olwenzeka ngexesha lobomi): Nangona oku kungenakuthintelwa ngokupheleleyo, zininzi izinto esinokuzenza ukunciphisa umngcipheko wazo. Oko kuthetha ukugcina indlela yokuphila esempilweni.
Iindlela zokunciphisa umngcipheko wotshintsho lwe-somatic:
- Xa uphuma elangeni: Ukuba uphuma elangeni ngexesha elishushu kakhulu, sebenzisa i -sunscreen elungileyo. Nxiba umnqwazi. Khusela ulusu lwakho kwimitha ye-UV kangangoko unako.
- Ukuba usebenza ngeekhemikhali: Ukuba usebenza ngeekhemikhali ngenxa yomsebenzi okanye ezinye iinjongo, qiniseka ukuba unxibe impahla yokuzikhusela, iiglavu kunye neemaski .
- Kuphephe ukutshaya ngokupheleleyo: Ukutshaya yeyona nto iphambili ebangela utshintsho lwe-somatic, oluyimbangela enkulu yeentlobo ezininzi zomhlaza, kuquka nomhlaza wemiphunga.
- Indlela yokuphila enempilo: Yitya ukutya okunesondlo. Yitya imifuno neziqhamo ezingaphezulu. Zilolonge rhoqo . Ezi zinto zinceda kakhulu ekugcineni iiseli zomzimba ziphilile.
Umyalezo Wokuya Ekhaya
- I-DNA "yincwadi yemiyalelo" exelela iiseli emzimbeni wethu indlela yokusebenza. Utshintsho lutshintsho oluncinci kuloo ncwadi yemiyalelo.
- Iinguqu ze-germline zezo zizuzwe njengelifa kubazali. Zikho kuyo yonke iseli yomzimba womntwana.
- Iinguqu zomzimba zezo zenzeka ngexesha lobomi. Azidluliselwa kwizizukulwana ngezizukulwana.
- Uninzi lweenguqu aziyonzakalisi imizimba yethu, kodwa ezinye zinokubangela izifo.
- Nangona utshintsho oluzuzwa njengelifa lungenakuthintelwa, indlela yokuphila esempilweni inokunciphisa umngcipheko wotshintsho olwenzeka ebomini.
- Ukuba kukho umntu kusapho lwakho onesifo esibangelwa lufuzo, kwaye uneenkxalabo okanye amathandabuzo ngaso, ungakhathazeki ngaso wedwa, kodwa ngokuqinisekileyo bonana nogqirha wakho uze uthethe naye.
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