Connexin 26 kuchinja-chinja ndicho chikonzero chinowanzovhiringidza chekuberekwa kwekunzwa kwekunzwa kurasikirwa . Connexin 26 inongova puroteni inowanikwa mumapapiro ekubatanidza beta 2 (GJB2) gene. Iyi proteine inodiwa kubvumira masero kuti ataurirane. Kana pasina zvakakwana zveprotexin 26 mapuroteni, potasium mazinga mukati memuteve yomukati anova akakwirira uye anokuvadza kunzwa.
Munhu wose ane makopi maviri ejeni iri, asi kana mubereki mumwe oga ane chikanganiso cheGJB2 / Connexin 26 gene, mwana angaberekwa ane kurasikirwa kwekunzwa. Mune mamwe mazwi, ichi chirevo chekushandura kwemashoko .
Ndeapi vanhu vari pangozi yeConnexin 26 mutations?
Connexin 26 kuchinja kunoitika kakawanda muCaucasian uye Ashkenazi Jewish populations. Kune 1 mu30 mutero wevatakuri veCaucasians uye 1 mu20 mutakuri wevatakuri kune avo veAshikenazi vaJudha vanobva kumarudzi.
Kuedzwa kweConnexin 26 kuchinja
Vanhu vanogona kuongororwa kuti vaone kana ivo vakatakura shanduko isina kururama yejeni. Imwe jeni, CX 30, yakave ichitaridzirwa uye inokonzera kurasikirwa kwekunzwa. Kuenzanisa kwakadaro kunogona kuitwa kutarisa kana kurasikirwa kwekunzwa kwevana kakatozvarwa kwakabatana neConnexin 26. Kuedza kunogona kuitwa neropa romuenzaniso kana cheek swab. Panguva ino, zvinotora mazuva anenge 28 kuti uwane zviitiko zvekuedzwa zvakare.
A genetic counselor kana geneticist inogona kukurongedza zvakanakisisa sekupi kuedza kwakakosha zvakanyanya maererano nenhoroondo yemhuri, kuongorora kwepanyama, uye rudzi rwekunzwa kurasikirwa.
Pane humwe hutano hunobatanidzwa neConnexin 26 mutsva?
Connexin 26 kuchinja kunoonekwa sechinhu chisingaoneki chinokonzera kushungurudzika kwekunzwa.
Izvi zvinoreva kuti hapana humwe hutano hwehutano hunobatanidzwa nechinhu ichi chinochinja.
Ko Connexin 26 yakabatana sei nekurasikirwa kwekunzwa kurapwa?
Kunzwa kurasikirwa kwakabatana neConnexin 26 kushanduka kwemazuva ano kunowanzova mumwero wakaenzana kusvika pakadzika, asi panogona kuva nekusiyana. Kupindira kwepakutanga kunokosha kuti ipe ruzha kune huropi hunobudirira uye hunobudirira kuburikidza nekushandiswa kwekunzwa rubatsiro kana kuti mapiritsi emakwenzi.
Iko kune tsvakurudzo yezvino inotarisa kuvepo kwejena therapy kuderedza chiyero chekunzwa kurasikirwa kunokonzerwa neConnexin 26 mutations kana kuti kubvisa. Uku kuedzwa kwave kuchiitwa mumakonzo uye makore akawanda kubva pamatambudziko evanhu.
Sources:
Genetic Testing for Hearing Loss (2015). Cincinnati Children's Hospital. Yakadzorerwa 12/09/2015 kubva ku http://www.cincinnatichildrens.org/service/g/genetic-hearing-loss/tests/
Connexin 26 (nd). California Ear Institute. Yakadzorerwa 12/10/2015 kubva ku http://www.californiaearinstitute.com/ear-disorders-connexin-26-bay-area.php
Connexin 26 kuongororwa kwegene (nd). Harvard Medical School Centre yeHupenhi Hwekutya. Yakadzorerwa 12/10/2015 kubva pa http://hearing.harvard.edu/info/Ins2_Connexin26.pdf
Kenneson A, Van Naarden-Braun K, Boyle C. GJB2 (connexin 26) zvakasiyana-siyana uye kusagadzikana kwekunzwa kurasikirwa kwekunzwa: Kuongorora kukuru. Genetics in Medicine (2002) 4, 258-274
American Friends of Tel Aviv University. (2014, March 24). Kubva pamakumbo maziso kune vanhu? Gene therapy kurasikirwa nekurasikirwa kwokunzwa kwekunzwa. SayenziDaily . Yakadzorerwa musi waDecember 10, 2015, kubva pawww.sciencedaily.com/releases/2014/03/140324111918.htm
Yakarongwa naMelissa Karp, Au.D.