Iinguqulelo ze-Connexin 26 ziyona nto ibangela ukuba ilahleko yokuvalelwa kwintlungu yokuzalwa . I-Connexin 26 yinyani iprotheyini efunyenwe kwi-gap junction beta 2 (GJB2). Le protein iyadingeka ukuvumela iiseli ukuba zithethane. Ukuba akukho niselo yeprotexin 26 eyaneleyo, amazinga e-potassium entle yangaphakathi aphezulu kakhulu kwaye awonakalise ukuva.
Wonke umntu unayo ikopi ezimbini zeli geni, kodwa ukuba umzali ngamnye ozalwayo unokufumana ikopi ephosakeleyo ye-GJB2 / Connexin 26 gene, umntwana unokuzalwa ngokulahlekelwa kwindlebe. Ngamanye amazwi, oku kuguqulwa kwe-autosomal .
Ziziphi iindawo ezisemngciphekweni weNguqulelo zeConnexin 26?
Iinguqulelo ze-Connexin 26 zenzeka rhoqo kwiindawo zaseCaucasian naseAshkenazi. Kukho i-1 kwi-30 yenqanaba lokuthwala abantu baseCaucasian kunye ne-20 kwi-20 yenqanaba lokuthwala labo base-Askenazi.
Uvavanyo lwe-Connexin 26 utshintsho
Abantu banokuvavanywa ukuba babone ukuba ngaba ngabaphathi beenguqu ezingalunganga ze-gene. Olunye ufuzo, iCX 30, luye lwachongwa kwaye lujongene nokulahlekelwa kwintetho. Ukuvavanywa okufanayo kunokukwenziwa ukuba kuqinisekiswe ukuba ukulahlekelwa kwindlebe yokuzalwa kwentwana ihlobene neConnexin 26. Ukuvavanywa kungenziwa ngeesampuli zegazi okanye kwihlathini. Ngeli xesha, kuthatha malunga neentsuku ezingama-28 ukufumana iziphumo zokuvavanywa.
Umcebisi wezofuzo okanye i-geneticist unokukukhokela ngokugqibeleleyo malunga nokuba luphi uvavanyo olufanelekileyo ngokusekelwe kwimbali yentsapho, uvavanyo lomzimba, kunye nohlobo lokulahlekelwa kwindlebe.
Ngaba kukho enye imicimbi yempilo ehambelana neConnexin 26?
Iinguqulelo ze-Connexin 26 zithathwa njengengxaki engeyiyo-syndromic yokulahlekelwa kwindlebe.
Oku kuthetha ukuba akukho nenye ingxaki zezokwelapha ezidibeneyo nolu tshintsho oluthile.
I-Connexin 26 edibana nokulahlekelwa kwintetho iphathwa njani?
Ukulahleka kokuvalelwa okuhambelana neConnexin 26 iinguqulelo zisoloko zikwinqanaba elincinane ukuya kuluhlu, kodwa kukho ukuhlukahluka. Ukungenelela kwangaphambili kubalulekile ukubonelela isandi kwiqondo eliphuhlisayo kwaye kuphunyezwe ngokusebenzisa izixhobo zokuvalelwa okanye iziplantshi ezichanekileyo.
Kukho uphando olwangoku olubhekiselele kwimeko yokwelapha i-gene ukunciphisa inani lokulahlekelwa kwindlebe ebangelwa yiinguqulelo ze-Connexin 26 okanye ukuyiqeda. Olu vavanyo luye lwenziwe ikakhulu kwiimiceba kwaye luyiminyaka emininzi ukusuka kwiimvavanyo zoluntu.
Imithombo:
Ukuhlolwa kweGenesis ukuLawula ukuLawula (2015). Isibhedlele Sezingane ZaseCincinnati. Ibuyiswe ngomhla we-12/09/2015 ukusuka kwi-http: //www.cincinnatichildrens.org/service/g/genetic-hearing-loss/tests/
Connexin 26 (nd). I-California Ear Institute. Ibuyiswe ngomhla we-12/10/2015 ukusuka kwi-http: //www.californiaearinstitute.com/ear-disorders-connexin-26-bay-area.php
I-Connexin 26 yokuhlolwa kofuzo (nd). Isiko leSikolo seZiko lezeMpilo saseHarvard seNzululwazi. Ibuyiswe ngomhla we-12/10/2015 ukusuka kwi-http: //hearing.harvard.edu/info/Ins2_Connexin26.pdf
U-Kenneson A, uVan Naarden-Braun K, uBoyle C. GJB2 (i-connexin 26) iinguqu kunye nokulahlekelwa kwindlebe yokuphulaphulwa kwemvakalelo: Ukuhlolwa kwe-Huge. I-Genetics kwiMithi (2002) 4, 258-274
Abahlobo baseMelika kwiYunivesithi yaseTel Aviv. (2014, Matshi 24). Ukusuka kwiindlebe zegundane kubantu? Ulwaphulo lwe-Gene ukulungisa ukulahlekelwa kwindlebe yokuqhubeka. ScienceDaily . Ukubuyiselwa ngoDisemba 10, 2015, ukusuka ku-www.sciencedaily.com/releases/2014/03/140324111918.htm
Ukuhlaziywa nguMelissa Karp, Au.D.