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Mutation Screening of the KCNQ4 and GJB3 Gene in High Frequencies Hearing Loss Population

Author: LiLiNa
Tutor: WuWenMing;WangQiuJu
School: PLA Postgraduate Medical School
Course: Department of Otolaryngology - Head and Neck Surgery
Keywords: High-frequency hearing loss Mutation screening KCNQ4 GJB3 Hereditary Deafness
CLC: R764.43
Type: Master's thesis
Year: 2005
Downloads: 83
Quote: 0
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Hereditary deafness have a high degree of genetic heterogeneity . There are hundreds of genes play a role in the function of the auditory system . Has been cloned 39 nonsyndromic deafness genes , including 13 genes with high frequency language deaf . 13 genes related to the frequency phrase deaf , KCNQ4 and GJB3 same at DFNA2 loci within the KCNQ4 gene encoding a cochlear function of the potassium ion channel protein , has been described as a \. The GJB3 gene encoding connexin 31 . According to the physiological function of the inner ear , we can see that potassium ions play a crucial role in generation of hearing , protein and potassium ion channels are steady state plays a very important role in the maintenance of potassium ions and potassium cycle , connected . Taking into account the protein to the maintenance bell ion KCNQ4 and GJB3 genes encoding them steady - state play a very important role , a mutant was able to cause a high - frequency hearing loss , and the application of molecular genetic studies by means of these distributing high - frequency hearing loss population study , Learn more about and explore the pathogenic factors of great significance . Nonsyndromic high - frequency hearing loss, this study collected otorhinolaryngology clinic of our hospital and the Institute of Otorhinolaryngology genetic resources collection network distribution of patients for the study, the candidate gene mutation screening . This study is divided into two parts . One , the part of the clinical data presentation and analysis as the research object the dissemination of high-frequency hearing decline in basic clinical situation of normal human hearing as a control group , including audiological examination data and imaging data . Second, the dissemination of high-frequency hearing loss population the KCNQ4 and GJB3 of genes the mutation screening KCNQ4 and GJB3 of gene mutations have been reported can be caused by high-frequency language deaf . KCNQ4

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CLC: > Medicine, health > Otorhinolaryngology > Otology,ear disease > Ear nervous system diseases > Deaf
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