PTEN Gwajin Halitta

Wadatacce

• Menene gwajin kwayar halitta ta PTEN?
• Me ake amfani da shi?
• Me yasa nake buƙatar gwajin kwayar PTEN?
• Menene ya faru yayin gwajin kwayar halitta?
• Shin zan bukaci yin komai don shirya wa gwajin?
• Shin akwai haɗari ga gwajin?
• Menene sakamakon yake nufi?
• Shin akwai wani abin da ya kamata in sani game da gwajin ƙirar PTEN?
• Bayani

Menene gwajin kwayar halitta ta PTEN?

Gwajin kwayar halittar PTEN yana neman canji, wanda aka sani da maye gurbi, a cikin kwayar halittar da ake kira PTEN. Kwayar halitta sune asalin asalin gadon da mahaifinka da mahaifinka suka mallaka.

Kwayar PTEN tana taimakawa dakatar da ci gaban ciwace-ciwacen daji. An san shi a matsayin mai hana ƙwayar cuta. Kwayar cutar danniya mai kama da birki kamar birki ne akan mota. Yana sanya "birki" akan sel, don haka kar su rarraba da sauri. Idan kana da maye gurbin kwayoyin halitta na PTEN, zai iya haifar da ci gaban ƙwayoyin cuta marasa ciwo waɗanda ake kira hamartomas. Hamartomas na iya nunawa cikin jiki duka. Hakanan maye gurbi na iya haifar da ci gaba da ciwan daji.

Za a iya maye gurbin maye gurbin kwayoyin halittar PTEN daga iyayenku, ko kuma a samu daga baya daga rayuwa ko kuma kuskuren da ke faruwa a jikinku yayin rabewar sel.

Canjin maye gurbi na PTEN na iya haifar da matsaloli iri-iri na lafiya. Wasu daga cikin waɗannan na iya farawa tun suna ƙuruciya ko ƙuruciya. Wasu kuma sukan nuna a lokacin da suka girma. Wadannan rikice-rikicen ana haɗuwa tare ana kiransu PTEN hamartoma syndrome (PTHS) kuma sun haɗa da:

• Ciwon Cowden, rashin lafiya wanda ke haifar da haɓakar hamartomas da yawa kuma yana ƙara haɗarin nau'o'in ciwon daji da yawa, gami da cututtukan kansa na mama, mahaifa, thyroid, da kuma hanji. Mutanen da ke da ciwo na Cowden galibi suna da girma fiye da girman kai (macrocephaly), jinkirin haɓaka, da / ko autism.
• Bannayan-Riley-Ruvalcaba ciwo shima yana haifarda hamartomas da macrocephaly. Bugu da kari, mutanen da ke fama da wannan ciwo na iya samun nakasar karatu da / ko autism. Maza masu larurar cuta galibi suna da larura masu duhu akan azzakari.
• Proteus ko Proteus-kamar ciwo na iya haifar da ƙari na ƙasusuwa, fata, da sauran kyallen takarda, da hamartomas da macrocephaly.

Samun (wanda aka sani da suna somatic) PTEN maye gurbi yana ɗayan maye gurbi da ake samu a cikin kansar ɗan adam. Wadannan maye gurbi an samo su a cikin nau'ikan cutar kansa daban-daban, gami da cutar sankarar prostate, kansar mahaifa, da wasu nau'o'in ciwan kwakwalwa.

Sauran sunaye: PTEN gene, cikakken zuriya; PTEN jerin abubuwa da sharewa / kwafi

Me ake amfani da shi?

Ana amfani da gwajin don neman canzawar kwayar halitta ta PTEN. Ba jarabawa ce ta yau da kullun ba. Yawanci ana bayar da shi ne ga mutane dangane da tarihin dangi, alamomi, ko kuma cutar kansa da ta gabata, musamman ma kansar nono, da na mahaifa, ko na mahaifa.

Me yasa nake buƙatar gwajin kwayar PTEN?

Kuna ko ɗanku na iya buƙatar gwajin kwayar PTEN idan kuna da tarihin iyali na maye gurbin kwayar halitta ta PTEN da / ko ɗaya ko fiye na waɗannan yanayi ko alamomin masu zuwa:

• Hamartomas da yawa, musamman a yankin gastrointestinal
• Macrocephaly (ya fi girma girma girman kai)
• Ci gaban jinkiri
• Autism
• Duhun dantse azzakari cikin maza
• Ciwon nono
• Ciwon kansa na thyroid
• Ciwon mahaifa a cikin mata

Idan an gano ku da ciwon daji kuma ba ku da tarihin cutar game da cutar, mai ba ku kiwon lafiya na iya ba da umarnin wannan gwajin don ganin ko PTEN maye gurbi na iya haifar da kansar ku. Sanin ko kuna da maye gurbi na iya taimaka wa mai ba ku damar yin tunanin yadda cutar ku za ta ci gaba da kuma jagorantar maganin ku.

Menene ya faru yayin gwajin kwayar halitta?

Gwajin PTEN yawanci gwajin jini ne. Yayin gwajin jini, wani kwararren mai kula da lafiya zai dauki samfurin jini daga jijiyar hannunka, ta amfani da karamar allura. Bayan an saka allurar, za a tara karamin jini a cikin bututun gwaji ko kwalba. Kuna iya jin ɗan kaɗan lokacin da allurar ta shiga ko fita. Wannan yawanci yakan dauki kasa da minti biyar.

Shin zan bukaci yin komai don shirya wa gwajin?

Kullum baku buƙatar kowane shiri na musamman don gwajin PTEN.

Shin akwai haɗari ga gwajin?

Akwai haɗari kaɗan don yin gwajin jini. Kuna iya samun ɗan ciwo ko rauni a wurin da aka sanya allurar, amma yawancin alamun suna tafi da sauri.

Menene sakamakon yake nufi?

Idan sakamakonka ya nuna kana da kwayar halitta ta PTEN, hakan ba yana nufin cewa kana da cutar kansa ba, amma haɗarinka ya fi na yawancin mutane. Amma yawan binciken kansar na iya rage haɗarin ka. Ciwon daji ya fi sauƙi idan aka samo shi a farkon matakan. Idan kana da maye gurbi, mai ba da sabis na kiwon lafiya na iya bayar da shawarar ɗaya ko fiye na waɗannan gwaje-gwaje masu zuwa:

• Colonoscopy, farawa yana da shekara 35-40
• Mammogram, farawa daga shekara 30 na mata
• Gwajin nono na wata na mata
• Nunin mata na shekara-shekara na mata
• Gwajin thyroid
• Bincike fata kowace shekara don ci gaba
• Gwajin koda shekara-shekara

Hakanan ana ba da shawarar maganin cututtukan thyroid da na fata kowace shekara don yara tare da maye gurbin kwayar halitta ta PTEN.

Learnara koyo game da gwaje-gwajen gwaje-gwaje, jeri na tunani, da fahimtar sakamako.

Shin akwai wani abin da ya kamata in sani game da gwajin ƙirar PTEN?

Idan an gano ku tare da maye gurbin kwayoyin halitta na PTEN ko kuma kuna tunanin yin gwaji, zai iya taimaka wajan yin magana da mai ba da shawara kan kwayoyin halitta. Mai ba da shawara kan kwayar halitta kwararren kwararren masani ne a fannin ilimin kwayoyin halitta da gwajin kwayoyin halitta. Idan har yanzu ba a gwada ku ba, mai ba da shawara zai iya taimaka muku fahimtar haɗari da fa'idodin gwaji. Idan an gwada ku, mai ba da shawara zai iya taimaka muku fahimtar sakamakon kuma ya umurce ku da tallafawa ayyukan da sauran albarkatu.

Bayani

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8. Dana-Farber Cibiyar Cancer [Intanet]. Boston: Dana-Farber Cibiyar Cancer; c2018. Ciwon daji na Halitta da Rigakafin: Cowden Syndrome (CS); 2013 Aug [wanda aka ambata 2018 Jul 3]; [game da fuska 3]. Akwai daga: https://www.dana-farber.org/legacy/uploadedfiles/library/adult-care/treatment-and-support/centers-and-programs/cancer-genetics-and-prevention/cowden-syndrome.pdf
9. Mayo Clinic: Mayo Laboratories Medical [Internet]. Gidauniyar Mayo don Ilimin Likita da Bincike; c1995–2018. ID ɗin Gwaji: BRST6: Ciwon Nono Canji 6 Gene Panel: Na asibiti da Fassara [wanda aka ambata 2018 Jul 3]; [game da fuska 4]. Akwai daga: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/64332
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Ba za a yi amfani da bayanan da ke wannan rukunin yanar gizon a madadin madadin ƙwararrun likitocin ko shawara ba. Tuntuɓi mai ba da kiwon lafiya idan kuna da tambayoyi game da lafiyarku.