Uvavanyo lwe-TP53 Genetic

Umxholo

• Yintoni uvavanyo lwe-TP53 yemvelo?
• Isetyenziselwa ntoni?
• Kutheni le nto ndifuna uvavanyo lwe-TP53 yemvelo?
• Kwenzeka ntoni ngexesha lovavanyo lwemfuzo lwe-TP53?
• Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?
• Ngaba bukhona ubungozi kuvavanyo?
• Zithetha ntoni iziphumo?
• Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwe-TP53?
• Izalathiso

Yintoni uvavanyo lwe-TP53 yemvelo?

Uvavanyo lwe-TP53 yemfuza lujonga utshintsho, olwaziwa njengoguquko, kwimfuza ebizwa ngokuba yi-TP53 (ithumba protein 53). Imfuza zizinto zokuqala ezisisiseko zofuzo ezidluliselwe zivela kunyoko nakuyihlo.

I-TP53 luhlobo olunceda ukumisa ukukhula kwamathumba. Yaziwa ngokuba sisicinezeli sethumba. Uhlobo lwesisu sokucinezela ithumba lusebenza njengeebhuleki kwimoto. Ibeka "iibhuleki" kwiiseli, ukuze zingazahluli ngokukhawuleza. Ukuba une-TP53 mutation, i-gene ayinakukwazi ukulawula ukukhula kweeseli zakho. Ukukhula okungalawulwayo kweseli kunokukhokelela kumhlaza.

Utshintsho lwe-TP53 lunokuzuzwa njengelifa kubazali bakho, okanye lufunyenwe kamva ebomini kwindalo esingqongileyo okanye kwimpazamo eyenzeka emzimbeni wakho ngexesha lokwahlukana kweseli.

• Utshintsho oluziwe njenge-TP53 luyaziwa njenge-Li-Fraumeni syndrome.
• I-Li-Fraumeni syndrome yimeko enqabileyo yemfuza enokuthi inyuse umngcipheko weentlobo ezithile zomhlaza.
• Ezi zomhlaza zibandakanya umhlaza wamabele, umhlaza wethambo, i-leukemia, kunye nomhlaza wethishu ethambileyo, ekwabizwa ngokuba zii-sarcomas.

Ifunyenwe (ikwabizwa ngokuba yi-somatic) iinguqulelo ze-TP53 zixhaphake kakhulu. Olu tshintsho lufunyenwe malunga nesiqingatha sazo zonke iimeko zomhlaza, nakwiindidi ezahlukeneyo zomhlaza.

Amanye amagama: Uhlalutyo lwenguquko ye-TP53, TP53 uhlalutyo lwemfuza olupheleleyo, TP53 somatic mutation

Isetyenziselwa ntoni?

Uvavanyo lusetyenziselwa ukujonga utshintsho lwe-TP53. Ayiluvavanyo oluqhelekileyo.Ihlala inikwa abantu ngokusekwe kwimbali yosapho, iimpawu, okanye ukuxilongwa kwangaphambili komhlaza.

Kutheni le nto ndifuna uvavanyo lwe-TP53 yemvelo?

Unokufuna uvavanyo lwe-TP53 ukuba:

• Ufumaniswe ukuba unethambo okanye umhlaza wethishu ethambileyo ngaphambi kweminyaka eyi-45
• Ufumaniswe ukuba unomdlavuza webele, ngaphambi kokuya esikhathini, isifo seengqondo, i-leukemia, okanye umdlavuza wamaphaphu ngaphambi kweminyaka engama-46
• Uye wanethumba elinye okanye nangaphezulu ngaphambi kweminyaka engama-46
• Elinye okanye nangaphezulu amalungu osapho lwakho afunyaniswe ene-Li-Fraumeni syndrome kunye / okanye enesifo somhlaza phambi kweminyaka engama-45

Le yimiqondiso onokuthi ube nayo njengelifa uguquko kwi-TP53 yemfuza.

Ukuba ufunyaniswe unesifo somhlaza kwaye ungenayo imbali yentsapho yesifo, umboneleli wakho wezempilo unokuyalela olu vavanyo ukuze ubone ukuba ukuguquka kwe-TP53 kunokubangela umdlavuza wakho. Ukwazi ukuba unenguqu kunokunceda umboneleli wakho acwangcise unyango kwaye aqikelele umphumo wesifo sakho.

Kwenzeka ntoni ngexesha lovavanyo lwemfuzo lwe-TP53?

Uvavanyo lwe-TP53 luhlala lusenziwa kwigazi okanye kumongo wethambo.

Ukuba ufumana uvavanyo lwegazi, Unonophelo lwempilo uyakuthatha isampulu yegazi kumthambo engalweni yakho, esebenzisa inaliti encinci. Emva kokuba inaliti ifakiwe, inani elincinci legazi liya kuqokelelwa kwityhubhu yovavanyo okanye igutyana. Unokuziva uluma kancinci xa inaliti ingena okanye iphuma. Oku kuhlala kuthatha imizuzu engaphantsi kwesihlanu.

Ukuba ufumana uvavanyo lomongo wethambo, Inkqubo yakho inokubandakanya la manyathelo alandelayo:

• Uya kulala phantsi ngecala okanye kwisisu, kuxhomekeke kweliphi ithambo eliya kusetyenziswa kuvavanyo. Uninzi lweemvavanyo zomongo wethambo zithathwa kwithambo lesinqe.
• Umzimba wakho uya kugutyungelwa ngelaphu, ukuze kubonakale kuphela indawo ejikeleze indawo yovavanyo.
• Indawo izakucocwa ngesinqanda magciwane.
• Uya kufumana inaliti yesisombululo esindindisholo. Isenokuhlaba.
• Nje ukuba le ndawo ibe ndindisholo, umboneleli wezempilo uyakuthatha isampulu. Uya kudinga ukuxoka kakhulu ngexesha leemvavanyo.
• Umboneleli wezempilo uya kusebenzisa isixhobo esikhethekileyo esiguqulela ethanjeni ukukhupha isampulu yomongo wethambo. Unokuziva uxinzelelo kwisiza ngelixa isampulu ithathwa.
• Emva kovavanyo, umboneleli wezempilo uya kuyigubungela indawo ngebhanti.
• Cwangcisa ukuba nomntu ekuqhubela ekhaya, kuba unganikwa into yokuthomalalisa ngaphambi kovavanyo, okunokukwenza wozele.

Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?

Ngokwesiqhelo awudingi malungiselelo akhethekileyo kuvavanyo lomongo wegazi okanye wethambo.

Ngaba bukhona ubungozi kuvavanyo?

Mncinci kakhulu umngcipheko wokuvavanywa kwegazi. Unokuba nentlungu encinci okanye ukrakra kwindawo apho inaliti yafakwa khona, kodwa uninzi lweempawu zihamba ngokukhawuleza.

Emva kovavanyo lomongo wethambo, unokuziva uqine okanye ukhathazekile kwindawo yenaliti. Oku kuhlala kuhamba kwiintsuku ezimbalwa. Umboneleli wakho wokhathalelo lwempilo unokucebisa okanye ukumisela umntu ophelisa iintlungu ukuba akuncede.

Zithetha ntoni iziphumo?

Ukuba ufumene ukuba une-Li-Fraumeni syndrome, kunjalo ayi kuthetha ukuba unomhlaza, kodwa umngcipheko wakho uphezulu kunabantu abaninzi. Kodwa ukuba unokutshintsha, ungathatha amanyathelo okunciphisa umngcipheko, onje:

• Ukuhlolwa komhlaza rhoqo. Umhlaza uyanyangeka xa ufumaneka kumanqanaba okuqala.
• Ukwenza utshintsho kwindlela yokuphila, njengokufumana umthambo ngakumbi kunye nokutya ukutya okusempilweni
• I-Chemoprevention, ukuthatha amayeza athile, iivithamini, okanye ezinye izinto ukunciphisa umngcipheko okanye ukulibazisa ukukhula komhlaza.
• Ukususa izicwili "ezisemngciphekweni"

La manyathelo aya kwahluka ngokuxhomekeka kwimbali yakho yezempilo nakwimvelaphi yosapho.

Ukuba unomhlaza kwaye iziphumo zakho zibonisa ukufunyanwa kwe-TP53 (uguquko lufunyenwe, kodwa awunayo imbali yosapho yomhlaza okanye i-Li-Fraumeni syndrome), umboneleli wakho unokusebenzisa olu lwazi ukukunceda ukuqikelela ukuba isifo sakho siza kuphuhla njani unyango.

Funda ngakumbi malunga novavanyo lwelabhoratri, uluhlu lweereferensi, kunye neziphumo zokuqonda.

Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwe-TP53?

Ukuba uye wafumanisa ukuba unaso okanye ukrokrela ukuba une-Li-Fraumeni syndrome, kunokunceda ukuthetha nomcebisi ngemfuzo. Umcebisi ngemfuzo yingcali eqeqeshwe ngokukodwa kwimfuzo novavanyo lwemfuzo. Ukuba awukavavanywa, umcebisi unokukunceda uqonde ubungozi kunye nezibonelelo zovavanyo. Ukuba uvavanyiwe, umcebisi unokukunceda ukuba uqonde iziphumo kwaye akukhokele ekuxhaseni iinkonzo kunye nezinye izixhobo.

Izalathiso

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Ulwazi olukule ndawo akufuneki lusetyenziswe endaweni yonyango okanye iingcebiso. Nxibelelana nomboneleli wezempilo ukuba unemibuzo malunga nempilo yakho.