چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| Themostcommoncauseofhereditaryhearingloss(HL)ismutationsintheConnexin26(Cx26orGJB2)gene.Wereporthere a novel missense mutation in GJB2 (c.58A>T), observed in an Iranian patient with bilateral hearing loss. Themutationwas anovel heterozygous-Ato-Ttransversionatcodon20(ATT→TTT)of theGJB2genewhich leads to thesubstitution of isoleucine (I) by phenylalanine (F) residue (I20F). This dominant mutation was recorded in NCBIGenBankwithaccessionnumberBankIt1688072Seq1KJ021927.ItispredictedthatthemutationaffectstheN-terminaldomainofconnexin26bysubstitutionofitsmuchconservedisoleucineresidue.TheN-terminaldomainisimportantformembrane integration and hexamer aggregation as well as voltage gating response. Genomic DNA was extracted byrapidgenomic DNA extraction (RGDE) methodand Cx26 gene was studied by PCR andsequencing methods. The I20Fmutationhasnotpreviouslybeendescribedinaffectedorcontrolsamplesfromotherpopulations. |
| نویسنده | نفر چندم مقاله |
|---|---|
| محمد رحمتی | دوم |
| ابوالفضل اکبرزاده | پنجم |
| محمد خلج کندری | اول |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| khalaj 2.pdf | 1397/10/08 | 217589 | دانلود |
