Kusinthika kwa connexin 26 ndilo vuto lalikulu la maubongo obadwa m'mimba . Connexin 26 kwenikweni ndi mapuloteni omwe amapezeka mu jekeseni beta 2 (GJB2) jini. Mapuloteniwa amafunika kuti maselo azilankhulana. Ngati palibe mapuloteni a Connexin 26 okwanira, potaziyamu yomwe imakhala mkati mwa khutu la mkati imakhala yapamwamba komanso imawononga kumva.
Aliyense ali ndi makope awiri a jini iyi, koma ngati kholo lililonse lobadwa nalo lili ndi vuto lolakwika la geni la GJB2 / Connexin 26, mwanayo akhoza kubadwa ali ndi vuto lomvetsera. Mwa kuyankhula kwina, izi ndi kusinthika kwakukulu kwa magetsi .
Ndi anthu ati omwe ali pangozi ya kusintha kwa Connexin 26?
Kusinthika kwa connexin 26 kumachitika nthawi zambiri ku Caucasus ndi Ashkenazi Jewish populations. Pali 1 peresenti 30 zothandizira anthu a ku Caucasus ndi 1 peresenti 20 zothandizira anthu a Asikenazi achiyuda.
Kuyesa kusintha kwa Connexin 26 kusintha
Anthu akhoza kuyesedwa kuti awone ngati ali onyamula jini lolakwika. Gulu lina, CX 30, ladziwikiranso ndipo liri ndi vuto lakumva. Kuyesera komweku kungachitidwe kuti mudziwe ngati kutaya kwa mwana wamwamuna kale kubadwa kumagwirizana ndi Connexin 26. Kuyeza kungatheke ndi chitsanzo cha magazi kapena tsaya swab. Panthawiyi, zimatengera masiku 28 kuti mupeze zotsatira za kuyesedwa.
Wothandizira za chibadwa kapena mzere wa zamoyo akhoza kukutsogolerani bwino momwe mukuyesera ndiko koyenera kwambiri chifukwa cha mbiri ya banja, kuunika kwa thupi, ndi mtundu wa kuchepa kwa kumva.
Kodi palinso mavuto ena okhudzana ndi kusintha kwa Connexin 26?
Kusinthika kwa Connexin 26 kumayesedwa chifukwa chosakhala ndi syndromic chifukwa cha kuchepa kwa kumva.
Izi zikutanthauza kuti palibe mavuto ena azachipatala omwe amagwirizana ndi kusintha kumeneku.
Kodi Connexin 26 ikukhudzidwa motani ndikumvetsera kwachinsinsi?
Kutaya kotayika kumayendedwe ka Connexin 26 kawirikawiri kumakhala kosavuta pang'ono, koma pangakhale kusiyana kwake. Kupititsa patsogolo koyambirira n'kofunikira kuti liperekedwe molondola kwa ubongo wopita patsogolo ndipo zimapindula pogwiritsira ntchito zothandizira kumva kapena zopangira zachitsulo.
Pali kafukufuku wamakono omwe akuwonekeratu kuti mwina mankhwalawa akhoza kuchepetsa kuchuluka kwakumva kwakumverera chifukwa cha kusintha kwa Connexin 26 kapena kuchotsa. Kuyesedwa kumeneku kwachitidwa makamaka mu mbewa ndipo ndi zaka zambiri kutali ndi mayesero othandiza.
Zotsatira:
Mayeso a Zachibadwa Kwa Kumva Kwachinsinsi (2015). Chipatala cha Ana a Cincinnati. Adabwezeretsanso 12/09/2015 kuchokera ku http://www.cincinnatichildrens.org/service/g/genetic-hearing-loss/tests/
Connexin 26 (nd). California Ear Institute. Inabweretsanso 12/10/2015 kuchokera ku http://www.californiaearinstitute.com/ear-disorders-connexin-26-bay-area.php
Connexin 26 kuyesedwa kwa majini (nd). Kalasi Yachipatala ya Harvard Yopusa Osungulumwa. Inabweretsanso 12/10/2015 kuchokera ku http://hearing.harvard.edu/info/Ins2_Connexin26.pdf
Kenneson A, Van Naarden-Braun K, Boyle C. GJB2 (connexin 26) zosiyanasiyana ndi kutaya kwakumva kwachinsinsi: Kupenda kwakukulu. Genetics mu Medicine (2002) 4, 258-274
Amzanga Achimereka a Yunivesite ya Tel Aviv. (2014, March 24). Kuchokera ku makutu a makoswe kwa anthu? Thandizo la Gene kuti athetse vuto lakumvetsera. SayansiDaily . Idasinthidwa pa December 10, 2015, kuchokera ku www.sciencedaily.com/releases/2014/03/140324111918.htm
Kusinthidwa ndi Melissa Karp, Au.D.