Singathetha ngovavanyo lwe-DNA kunye novavanyo lwe-genetic?

Mhlawumbi ukhe waweva amagama anje 'uvavanyo lweDNA' kunye 'novavanyo lwemfuza', akunjalo? Ngamanye amaxesha kwimuvi, okanye kwiindaba. Zithini ezi zinto ngokwenene? ​​Kutheni zenziwa? Yintoni esinokuyifunda kuzo? Makhe sithethe ngazo zonke ezi zinto ngokweenkcukacha, ngokulula, namhlanje.

Yintoni uvavanyo lwemfuza?

Ngamafutshane, uvavanyo lwemfuza luvavanyo olukhangela utshintsho kwiijini zakho, iikhromosomu , okanye iiproteni . Oku kukwabizwa ngokuba luvavanyo lwe-DNA . Olu vavanyo lubandakanya ukuthatha isampuli yegazi lakho, ulusu, iinwele, izicwili, okanye, ukuba ulindele umntwana, ulwelo lwe-amniotic olujikeleze umntwana wakho. Olu vavanyo lunokuqinisekisa okanye luthintele ukuba unesifo semfuza. Lunokukunceda ufumanise ukuba unokuba nesifo semfuza kangakanani kwixesha elizayo, okanye ukuba unokuba nesifo semfuza kangakanani na kumntwana wakho.

Zijonge ntoni iimvavanyo zemfuza?

Kulungile, yintoni kanye kanye le mvavanyo yemfuza ejongeka kuyo? Ngokuyintloko ijonge utshintsho kwiijini zakho, iikhromosomu, kunye neeproteni. Khawucinge nje, uvavanyo lwe-DNA lunokukuxelela okuninzi ngomzimba wakho, inkangeleko yakho, kunye neejini ezidala ubuntu bakho.

• Oku kunokuqinisekisa ukuba unesifo esithile okanye akunjalo.
• Oku kunokukuxelela nokuba usengozini enkulu yokuhlaselwa zizifo ezithile.
• Ayipheleli apho, ezi mvavanyo zinokujonga ukuba unayo na i-gene eguqukileyo onokuyidlulisela kumntwana wakho.

Ziziphi iintlobo zovavanyo lwe-DNA ezikhoyo?

Makhe sijonge iintlobo ezimbalwa eziphambili.

1. Uvavanyo lwe-gene

Oku kuquka ukuhlalutya i-DNA yakho nokukhangela utshintsho kwiijini zakho, olubizwa ngokuba zii-mutations . Ezi nguqu zinokubangela okanye zonyuse umngcipheko wokufumana iingxaki ezithile zejini. Ezi vavanyo zejini zinokujonga ijini enye kuphela, iijini ezininzi, okanye i-DNA yakho yonke. Ukujonga i-DNA yakho yonke kubizwa ngokuba luvavanyo lwejini .

2. Uvavanyo lweChromosome

Uvavanyo lweChromosome luvavanyo olujonga iichromosomes zakho, eziyimicu emide yeDNA. Zikhangela utshintsho ngokulandelelana kwezakhi zofuzo. Olu tshintsho lunokubangela iimeko zezakhi zofuzo. Umzekelo, zinokubona ukuba unayo na ikopi eyongezelelweyo yechromosome .

3. Ukuvavanya iiProteni

Uvavanyo lweeproteni luhlalutya iimpembelelo zeekhemikhali ezenzeka ngaphakathi kweeseli zethu, njengomsebenzi wee-enzyme . Ukuba kukho iingxaki ngeeproteni zakho, oko kuthetha ukuba kusenokubakho utshintsho kwi-DNA yakho. Ezo nguqu zinokubangela neemeko zemfuza.

Uvavanyo lwemfuza olwenziwa ngamaxesha ahlukeneyo

Ngoku makhe sibone ukuba ezi mvavanyo zemfuza ziluncedo phantsi kweziphi iimeko.

Uvavanyo lwangaphambi kokuzalwa

Ukuba ukhulelwe, ungafumanisa ukuba umntwana wakho ongekazalwa uneziguquguquko kwiijini zakhe okanye kwiikromosomu ngexesha lokukhulelwa, ngokusebenzisa uvavanyo lwe-DNA yokukhulelwa. Kodwa khumbula, olu vavanyo alufumani zonke iimeko. Nangona kunjalo, lunokukuxelela ukuba umntwana wakho unokuba nethuba elingakanani lokuzalwa enezinye zeemeko esizaziyo ukuba sinokuzibona. Umzekelo, ukuba umntu kusapho lwakho unembali yemfuza , oko kuthetha ukuba umntwana wakho usemngciphekweni omkhulu wokufumana imeko yemfuza, ugqirha wakho unokucebisa olu vavanyo lokukhulelwa.

Uvavanyo lokuxilonga

Olu vavanyo lokuxilonga lunokunceda ekuqinisekiseni ukuba unezifo ezithile zofuzo okanye iingxaki ze-chromosome . Nangona kunjalo, azinakukuvavanya zonke iimeko zofuzo. Nangona olu vavanyo lokuxilonga ludla ngokusetyenziswa ngexesha lokukhulelwa, lunokwenziwa nangaliphi na ixesha ukuqinisekisa ukuxilongwa ukuba uneempawu zesifo.

Uvavanyo lwenkampani

Kukho ezinye izifo ezidluliselwa kwizizukulwana ngezizukulwana njenge- "Autosomal Recessive" . Oko kuthetha ukuba, umntu unokuba ne-gene yaloo meko, kodwa angabonakalisi zimpawu. Ngumthwali nje we-gene leyo. Oko kukuthi, ungafumanisa ukuba ungumthwali we-gene eguquliweyo yesifo esithile se-"Autosomal Recessive" ngovavanyo lomthwali. Oku kudla ngokwenziwa ukuba omnye wabazali unembali yosapho yesifo se-"Autosomal Recessive". Kuba, ukuze umntwana abe nesifo esinjalo, bobabini umama notata kufuneka babe nekopi ye-gene leyo. Ngoko ke, ukuba omnye waziwa njengomthwali, ukuba nomnye naye uyavavanywa, kunokufunyanwa ukuba abantwana banokuba naso eso sifo.

Uvavanyo lwangaphambi kokufakelwa

Olu luvavanyo olukhethekileyo kancinci. Lwenziwa kusetyenziswa iindlela zokuncedisa ekuzaleni (ART) , umzekelo , ukuchumisa nge-in vitro (IVF).Uvavanyo lwangaphambi kokufakelwa kweqanda lunokubona utshintsho lwezakhi zofuzo kwi-embryos ezidalwayo. Oku kuquka ukuthatha iiseli ezimbalwa kwi-embryos nokuzivavanya ukuze kubonwe utshintsho oluthile. Emva koko, yi-embryos kuphela ezingenazo ezo nguqu ezifakwa kwisibeleko ukuze kuzanywe ukukhulelwa.

Uvavanyo lweemveku ezisandula ukuzalwa

Usana lwakho luza kuhlolwa iintsuku ezimbalwa emva kokuzalwa. Olu vavanyo losana olusandul’ ukuzalwa lujonga iimeko ezithile zemfuza, i-metabolic, okanye ezinxulumene ne-hormone . Iintsana ezisandul’ ukuzalwa zihlolwa kwangethuba kuba ukuba kukho ingxaki, unyango lunokuqala ngokukhawuleza. Ilizwe/ilizwe ngalinye lidla ngokuthatha isigqibo sokuba zeziphi iimeko ezihlolwayo ngale ndlela. Umzekelo, izibhedlele eMelika zinokuhlola iintsana ezisandul’ ukuzalwa kwiimeko ezingaphezu kwama-35.

Uvavanyo lokuqikelela kunye novavanyo olungaphambi kokuba kubekho iimpawu

Utshintsho lwezakhi zofuzo olunyusa umngcipheko wakho wokuba nemeko yezakhi zofuzo kwixesha elizayo ngamanye amaxesha lunokufumaneka ngovavanyo lokuqikelela kunye novavanyo lwangaphambi kweempawu. Olu vavanyo lokujonga ukuba utshintsho kwizakhi zofuzo zakho luyandisa na umngcipheko wakho wokuba nezifo ezithile. Umzekelo, ezinye iintlobo zomhlaza , ezifana nomhlaza webele, ziwela kolu luhlu. Uvavanyo lwangaphambi kweempawu lunokukuxelela ukuba uza kuba nemeko yezakhi zofuzo ngaphambi kokuba ube neempawu. Kodwa alunakuqinisekiswa ngokupheleleyo. Kusoloko kukho ithuba elincinci lempazamo xa usenza olu hlobo lovavanyo. Ke, thetha nogqirha wakho ngale nto ngaphambi kokuba wenze naluphi na uvavanyo.

Zeziphi izifo ezinokufunyaniswa ngovavanyo lwemfuza?

Oku kubaluleke kakhulu. Kubalulekile ukukhumbula ukuba nangona uvavanyo lwemfuza lunokufumanisa ezinye iimeko, alunakukwazi ukubona yonke into . Kwakhona, iziphumo zovavanyo ezilungileyo azithethi ukuba uza kuba nale meko. Nangona kunjalo, olu vavanyo lwemfuza lunokuba luncedo ekuqinisekiseni okanye ekususeni izifo ezininzi ezahlukeneyo kunye neemeko. Nazi imizekelo embalwa:

• `I-Down Syndrome` `(I-Down Syndrome)`
• Isifo sikaHuntington
• Icystic fibrosis
• `Isifo seSickle Cell` `(Isifo seSickle Cell)`
• `I-Phenylketonuria` `(I-Phenylketonuria)`
• Umhlaza weColon (Colorectal)
• Umhlaza webele

Zininzi nezinye izifo ezifana nale.

Zenziwa njani ezi vavanyo zeDNA?

Kulula kakhulu. Ugqirha wakho uza kuthatha isampuli kuwe. Isenokuba ligazi lakho, iinwele, ulusu oluncinci, izicubu zomzimba, okanye, ukuba ukhulelwe , ulwelo lwe-amniotic olujikeleze umntwana wakho.Isenokuba njalo. Olu lwelo lwe-amniotic lulwelo olujikeleze usana lwakho ngexesha lokukhulelwa. Ugqirha uya kuthumela le sampuli kwilebhu. Kwilebhu, iingcali ziya kujonga naluphi na utshintsho kwiijini zakho, kwiikromosomu, okanye kwiiproteni. Ekugqibeleni, iingcali ziya kuthumela iziphumo zovavanyo kugqirha wakho.

Zithini iingozi zovavanyo lwemfuza?

Iingozi zomzimba zovavanyo oluninzi lwemfuza ziphantsi kakhulu. Nangona kunjalo, ngovavanyo lwangaphambi kokukhulelwa, kukho umngcipheko omncinci kakhulu wokuphuma kwesisu . Oku kungenxa yokuba uvavanyo lubandakanya ukuthatha isampuli yolwelo lwe-amniotic olujikeleze umntwana wakho esibelekweni.

Nangona kunjalo, uvavanyo lwemfuza lunemingcipheko emikhulu , ngokweemvakalelo nangokwezimali.

Khawuthelekelele, ukuba ufumana iziphumo ezingalindelekanga, ungaziva unomsindo, uloyiko, udanile, uxhalabile , okanye unetyala . Ukongeza, uvavanyo lwemfuza lunokubiza imali eninzi, ngamanye amaxesha amakhulu amawaka ee-rupees. I-inshurensi isenokugubungela olu xabiso. Kodwa kudla ngokuxhomekeka kuhlobo lovavanyo kunye nesizathu sovavanyo.

Ngaphezu koko, uvavanyo lwemfuza aluboneleli ngolwazi malunga nazo zonke iimeko zemfuza, kwaye ayizizo zonke iimvavanyo ezichaneke ngokupheleleyo. Azinakuqikelela ukuba iimpawu ziya kuba nkulu kangakanani okanye ukuba imeko yemfuza iya kuvela nini.

Zithini iziphumo zovavanyo lwe-DNA?

Iziphumo zovavanyo lwe-DNA azisoloko zilula ukuziqonda. Ugqirha wakho uza kusebenzisa uhlobo lovavanyo, imbali yakho yezonyango, kunye nembali yosapho lwakho ukutolika iziphumo. Emva koko, uza kukuchazela iziphumo ezithile. Iziphumo zingahlulwahlulwa ngolu hlobo lulandelayo:

• I-positive: Ukuba iziphumo zovavanyo lwakho lwe-DNA zilungile, oko kuthetha ukuba ilebhu ikwazile ukufumana utshintsho lwemfuza olwaziwayo ukuba lubangela isifo. Oku kunokuqinisekisa ukuxilongwa, kukuchonge njengomthwali wesifo, okanye kufumanise ukuba usemngciphekweni omkhulu wokufumana esi sifo.
• I-Negative: Ukuba iziphumo zovavanyo lwakho lwe-DNA azibonakali, oko kuthetha ukuba ilebhu ayikwazanga ukufumana utshintsho lwezakhi zofuzo kwi-DNA yakho olunokubangela isifo. Oku kunokuthintela ukuxilongwa, kuchonge ukuba awungomntu othwala esi sifo, okanye kuchonge ukuba awukho semngciphekweni omkhulu wokufumana esi sifo.
• Akuqinisekanga:Ukuba iziphumo zakho zovavanyo lwe-DNA aziphelelanga, oko kuthetha ukuba ilebhu isenokuba ifumene utshintsho lwemfuza. Kodwa abanalo ulwazi olwaneleyo lokufumanisa ukuba luqhelekile okanye lutshintsho olubangela isifo. Oku kungenxa yokuba wonke umntu unezahluko eziqhelekileyo, zendalo kwi-DNA yakhe ezingachaphazeli impilo yakhe.

Zichane kangakanani iimvavanyo ze-DNA?

Kukho iindlela ezimbini zokulinganisa ukuchaneka kovavanyo lwemfuza. Enye kukuqinisekiswa kohlalutyo. Oku kujonga ukuba uvavanyo lwe-DNA lunokufumanisa ngokuchanekileyo ukuba utshintsho kwi-gene ethile lukhona okanye alukho. Olunye kukuqinisekiswa kweklinikhi. Oku kuthetha ukuba, ukuba utshintsho lukhona, lunxulumene nesifo okanye imeko ethile. Zonke iilabhoratri ezenza uvavanyo lwe-DNA zilawulwa ngokwemigangatho eyaziwayo ngurhulumente. Le migangatho yenzelwe ukuqinisekisa ukuchaneka kovavanyo lwemfuza.

Kuthatha ixesha elingakanani ukufumana iziphumo zovavanyo lwe-DNA?

Ezinye iziphumo zovavanyo zingafunyanwa kwiintsuku ezimbalwa. Uvavanyo lwangaphambi kokuzalwa, ngakumbi, ludla ngokubuya ngokukhawuleza kakhulu. Nangona kunjalo, ezinye iimvavanyo zingathatha iiveki ezininzi ukufumana iziphumo. Ugqirha wakho uza kukunika ulwazi oluthile malunga nokuba uza kuzifumana nini iziphumo zakho zovavanyo olulwenzayo.

Yeyiphi ikhithi yovavanyo lwe-DNA engcono kakhulu?

Enyanisweni, ukuba ufuna uvavanyo lwe-DNA, eyona nto ilungileyo onokuyenza kukudibana nogqirha okanye umcebisi wezemfuza okufutshane nawe uze wenze uvavanyo. Baza kukunceda ukhethe uvavanyo olufanelekileyo kuwe kwaye bathethe nawe ngentsingiselo yeziphumo xa uzifumene. Nangona kunjalo, ukuba awukwazi ukuya kugqirha, ungafumana nekhithi yovavanyo lwe-DNA ngqo kwinkampani yovavanyo lwe-DNA. Oku kubizwa ngokuba luvavanyo lwemfuza lwe -``Direct-to-Consumer'' (DTC) . Ezona khithi zovavanyo lwe-DNA zibalaseleyo zibonelela ngolwazi oluqondakala lula malunga nesiseko sesayensi sovavanyo lwabo. Nangona kunjalo, kukho umngcipheko ekusebenziseni ezi, kuba usenokungabi namntu onokuthetha naye ngeziphumo nawe ngokwakho.

Ukuba uvavanywe ukuba unesimo semfuza, okanye ukuba ufumanisa ukuba usemngciphekweni omkhulu wokuba nesifo, qiniseka ukuba uthetha nogqirha wakho. Angakuthumela kumcebisi wemfuza. Loo mcebisi angakuvavanya kunye nolwazi olufumeneyo aze akuncede wenze isigqibo sokuba wenze ntoni emva koko.

Uvavanyo lwe-DNA luqale nini?

Eli libali elinomdla. Izazinzulu zasungula indlela ebizwa ngokuba yi -`(Restriction Fragment Length Polymorphism - RFLP)` uhlalutyo ngeminyaka yoo-1980. Olu hlalutyo yayiluvavanyo lokuqala lwe-genetic olusebenzisa i-DNA. Kodwa ngeminyaka yoo-1990, `(Polymerase Chain Reaction - PCR)`Uvavanyo lwe-DNA lwaziswa. Le ndlela yovavanyo lwe-PCR DNA yathatha indawo yendlela yangaphambili yovavanyo lwe-RFLP. Isayensi yovavanyo lwe-DNA yintsimi etshintsha rhoqo neguqukayo.

Yintoni uvavanyo lobuzali lwe-DNA?

Mhlawumbi ukhe weva ngale nto. Uvavanyo lwe-DNA lukatata lunokufumanisa ukuba ngubani utata womntwana. I-DNA cheek swab okanye uvavanyo lwegazi lunokufumanisa ukuba umntu ungutata womntwana okanye umntwana wakho. Oku kunokufunyanwa ngexesha lokukhulelwa ngokwenza uvavanyo lukatata ngaphambi kokukhulelwa.

Okokugqibela, izinto ekufuneka uzikhumbule

Kulungile, ngoko ke sithethe kakhulu ngovavanyo lwe-DNA, okanye uvavanyo lwe-genetic. Olu vavanyo lunceda ekufumaneni ukuba unesifo se-genetic okanye ukuba unokuba nesifo esithile kwixesha elizayo. Nangona uvavanyo lwe-genetic lunokukunika uxolo lwengqondo , lukwaza nemingcipheko emininzi kunye nemida .

Ukuba unomdla wovavanyo lwemfuza, qiniseka ukuba uthetha nogqirha wakho. Angakuthumela kumcebisi wemfuza aze akunike ulwazi oluthe kratya malunga nayo yonke le nkqubo.

Siyathemba ukuba olu lwazi ulufumene luluncedo. Ukuba ufuna ukwazi okungakumbi ngento efana nale, sazise!

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