Liphetoho tsa connexin tse 26 ke sesosa se tloaelehileng ka ho fetisisa sa ho lahleheloa ke maikutlo ha motho a utloa bohloko . Connexin 26 ha e le hantle e na le protheine e fumanoang liphatsa tsa lefutso tsa gunction beta 2 (GJB2). Protheine ena e hlokahala ho lumella lisele hore li buisane. Haeba ho se na protheine ea Connexin 26 e lekaneng, mahlaseli a potassium a tsebe e ka hare haholo a senya le ho utloa.
E mong le e mong o na le likopi tse peli tsa lefutso lena, empa haeba motsoali e mong le e mong ea tsoaloang a e-na le kopi e fosahetseng ea liphatsa tsa GJB2 / Connexin 26, ngoana a ka tsoaloa a e-na le tahlehelo ea kutlo. Ka mantsoe a mang, sena ke phetoho e fetohang ea autosomal .
Ke baahi ba bangata ba kotsing ea liphetoho tsa Connexin 26?
Liphetoho tsa connexin tse 26 li etsahala hangata linaheng tsa Caucasian le tsa Ashkenazi. Ho na le tekanyo ea 1 ho ea 30 ea liphallelo bakeng sa Caucasians le tekanyo ea 1 ho ea 20 ea tšebeliso bakeng sa ba Ashkenazi ba Bajuda.
Tlhahlobo ea liphetoho tsa Connexin 26
Batho ba ka hlahlojoa ho bona hore na ba jara phetoho e fosahetseng ea liphatsa tsa lefutso. E 'ngoe ea liphatsa tsa lefutso, e leng CX 30, e boetse e tsejoe' me e ikarabella bakeng sa tahlehelo ea kutlo. Tlhahlobo e joalo e ka etsoa ho netefatsa hore na tahlehelo ea kutlo ea bana e se e ntse e amana le Connexin 26. Tlhahlobo e ka etsoa ka mohlala oa mali kapa letlalo la swab. Ka nako ena, ho nka matsatsi a ka bang 28 ho fumana liphello tsa tlhahlobo.
Moeletsi oa liphatsa tsa lefutso kapa setsebi sa liphatsa tsa lefutso a ka u tataisa ka ho fetisisa mabapi le hore na ke teko efe e loketseng haholo ho latela histori ea lelapa, tlhahlobo ea 'mele le mofuta oa tahlehelo ea kutlo.
Na ho na le litaba tse ling tsa bophelo bo amanang le liphetoho tsa connexin 26?
Liphetoho tsa connexin tse 26 li nkoa e le sesosa sa ho se utloisisane le ho lahleheloa ke kutlo.
Sena se bolela hore ha ho na mathata a bongaka a amanang le phetoho ena e khethehileng.
Connexin 26 e amana joang le tahlehelo ea kutlo ea ho utloa?
Ho lahleheloa ha maikutlo ho amanang le liphetoho tsa Connexin 26 hangata li lekana ka tsela e leka-lekaneng, empa ho ka 'na ha e-ba le phapang e itseng. Ho kenella ka potlako hoa bohlokoa ho fana ka molumo ho boko bo ntseng bo hōla 'me bo finyelloa ka tšebeliso ea lithuso tsa kutlo kapa li-implants tsa cochlear.
Ho na le lipatlisiso tsa morao-rao tse shebaneng le monyetla oa ho thibela liphatsa tsa lefutso ho fokotsa palo ea tahlehelo ea kutlo e bakoang ke liphetoho tsa Connexin 26 kapa ho li felisa. Tlhahlobo ena e 'nile ea etsoa ka litoeba' me e le lilemo tse ngata ho tloha litsing tse sebetsang tsa batho.
Lisebelisoa:
Tlhahlobo ea Likokoana-hloko bakeng sa Kutlo ea Bohlokoa (2015). Sepetlele sa Bana ba Cincinnati. E khutlisitsoe ka 12/09/2015 ho tloha ho http://www.cincinnatichildrens.org/service/g/genetic-hearing-loss/tests/
Connexin 26 (nd). California Ear Institute. E khutlisitsoe ka 12/10/2015 ho tloha ho http://www.californiaearinstitute.com/ear-disorders-connexin-26-bay-area.php
Connexin 26 tlhahlobo ea liphatsa tsa lefutso (nd). Setsi sa Sekolo sa Bongaka sa Harvard sa Bokooa ba Bolulo. E khutlisitsoe ka 12/10/2015 ho tloha http://hearing.harvard.edu/info/Ins2_Connexin26.pdf
Kenneson A, Van Naarden-Braun K, Boyle C. GJB2 (connexin 26) mefuta e sa tšoaneng le tahlehelo e sa utloahaleng ea kutlo ea kutlo ea maikutlo: Tlhahlobo e kholo. Genetics Medicine (2002) 4, 258-274
Metsoalle ea Amerika ea Univesithi ea Tel Aviv. (2014, la 24 March). Ho tsoa litsebeng tsa mouse ho ea ho batho? Phekolo ea Gene ho sebetsana le tahlehelo e ntseng e tsoela pele ea ho utloa. ScienceSaily . E khutlisitsoe ka la 10 December, 2015, ho tloha ho www.sciencedaily.com/releases/2014/03/140324111918.htm
E hlophisitsoeng ke Melissa Karp, Au.D.