Izinguquko ezingu-26 ze-Connexin yizona ezivame kakhulu ezibangelwa ukulahlekelwa kwezindlebe zokuzalwa ezingqondweni . I-Connexin 26 empeleni iyiprotheni etholakala egeni le-gap junction beta 2 (GJB2). Le phrotheni iyadingeka ukuvumela amaseli ukuthi axhumane. Uma kungekho amaprotheni okwanele okuthiwa yi-Connexin 26, amazinga e-potassium endlebeni yangaphakathi aphezulu futhi awonakele ukuzwa.
Wonke umuntu unamakhophi amabili ale geythini, kepha uma umzali ngamunye obeletha enekhophi ephuthele yegciwane le-GJB2 / Connexin 26, umntwana angase azalwe ngokulahlekelwa kwezindlebe. Ngamanye amazwi, lokhu kungukushintshashintsha kwe-autosomal okuguquguqukayo .
Yiziphi izizwe ezisengozini yokuguqulwa kwe-Connexin 26?
Izinguquko ezingu-26 ze-Connexin zenzeka kaningi emazweni aseCaucasian nase-Ashkenazi amaJuda. Kunesilinganiso esingu-1 kwangu-30 esithwala abantu baseCaucasus kanye no-1 kwabangu-20 izinga labathwali kulabo base-Ashkenazi amaJuda.
Ukuhlolwa kwezinguquko ezingu-26 ze-Connexin
Abantu bangavivinywa ukuze babone ukuthi bayithwala yini inguqulo engalungile yesakhi. Esinye isisindo, i-CX 30, sitholiwe futhi sinomthwalo wokulahlekelwa kokuzwa. Ukuhlolwa okufanayo kungenziwa ukuze kunqume ukuthi ukulahlekelwa kwezwi lokuzalwa kwengane kuvele kuhlobene neConnexin 26. Ukuhlolwa kungenziwa nge-sampuli yegazi noma ihlathi le-swab. Ngalesi sikhathi, kuthatha cishe izinsuku ezingu-28 ukuthola imiphumela yokuhlolwa emuva.
Umeluleki wezakhi zofuzo noma i-geneticist angakuqondisa kangcono ukuthi yikuphi ukuhlola okufaneleka kakhulu ngokusekelwe emlandweni womndeni, ukuhlolwa ngokomzimba, nokungahlehlisi kokuzwa.
Zikhona yini ezinye zezempilo ezihlobene nezinguquko ze-Connexin 26?
Izinguquko ezingu-26 ze-Connexin zibhekwa njengesizathu esingeyona-syndromic yokulahlekelwa kokuzwa.
Lokhu kusho ukuthi ayikho enye izinkinga zezokwelapha ezihlotshaniswa nalolu shintsho oluthile.
I-Connexin 26 ihlobene kanjani nokulahlekelwa kwezwi ukuphathwa?
Ukulahleka kokuzwa okuhlobene nokuguqulwa kwe-Connexin 26 ngokuvamile kuvame ukulinganisa, kodwa kungase kube nokuhluka okuhlukile. Ukwelashwa kwangasese kubalulekile ukunikeza umsindo ebuchosheni obusakhulayo futhi kutholakala ngokusebenzisa izinsiza zokuzwa noma izimpande ze-cochlear.
Kukhona ucwaningo lwamanje olubheke ukuthi kungenzeka ukuthi ukwelapha izakhi zofuzo ukunciphisa inani lokulahlekelwa kokuzwa okubangelwa ukuguqulwa kwe-Connexin 26 noma ukuqeda. Lokhu kuhlolwa kuye kwaqhutshwa ngokuyinhloko emasimini futhi kuneminyaka eminingi kude nokuvivinywa komuntu okusebenzayo.
Imithombo:
Ukuvivinya nge-Genetic for Hearing Loss (2015). Isibhedlela Sezingane ZaseCincinnati. Ibuyiselwe ngo-12/09/2015 kusuka ku-http: //www.cincinnatichildrens.org/service/g/genetic-hearing-loss/tests/
I-Connexin 26 (nd). I-California Ear Institute. Ibuyiselwe ngo-12/10/2015 kusuka ku-http: //www.californiaearinstitute.com/ear-disorders-connexin-26-bay-area.php
I-Connexin 26 yokuhlolwa kofuzo (nd). I-Harvard Medical School Isikhungo Sezinzwa Ezizimele. Ibuyiselwe ngo-12/10/2015 kusuka ku-http://hearing.harvard.edu/info/Ins2_Connexin26.pdf
Kenneson A, Van Naarden-Braun K, Boyle C. GJB2 (connexin 26) ezihlukahlukene kanye nokulahleka kokuzwa kokuzwa kwe-sensority: Ukubuyekezwa kwe-Huge. I-Genetic in Medicine (2002) 4, 258-274
Abangane baseMelika beYunivesithi yaseTel Aviv. (2014, Mashi 24). Kusuka ezindlebeni zegundane ukuya kubantu? I-Gene therapy yokubhekana nokulahlekelwa kokuzwa okuqhubekayo. IsayensiIsiSayensi . Ibuyiselwe ngo-Disemba 10, 2015, kusukela ku-www.sciencedaily.com/releases/2014/03/140324111918.htm
Kubuyekezwe nguMelissa Karp, Au.D.