本文選題：廣西地區(qū) + 耳聾基因��； 參考：《廣西中醫(yī)藥大學(xué)》2017年碩士論文

【摘要】：目的:通過對(duì)廣西地區(qū)感因神經(jīng)性聾人群致病基因SLC26A4常見突變位點(diǎn)進(jìn)行檢測(cè),初步分析廣西地區(qū)耳聾人群中SLC26A4常見耳聾基因突變特點(diǎn),為臨床防聾及治聾提供參考。方法:研究對(duì)象為廣西都安縣、扶綏縣及武鳴縣3所特殊教育學(xué)校的耳聾患者90例、在我院住院接受人工耳蝸植入術(shù)的患者43例、來自我院門診聽力篩查未通過的患者40例、突發(fā)性耳聾患者137例,共計(jì)310例耳聾患者。其中,男194例,女116例;壯族167例,漢127例,瑤族12例,苗族2例,侗族1例,仫佬族1例;語前聾170例,語后聾140例;感音神經(jīng)性中度聾31例,重度聾24例,極重度聾255例;有耳聾家族史者44例;43例患者接受單側(cè)人工耳蝸植入術(shù),1例接受雙側(cè)。所有受檢者均采集外周血并提取基因組DNA,進(jìn)行PCR擴(kuò)增,應(yīng)用博奧生物有限公司提供的晶芯?十五項(xiàng)遺傳性耳聾基因檢測(cè)試劑盒(微陣列芯片法)對(duì)樣本基因組DNA的SLC26A4的8個(gè)突變位點(diǎn)進(jìn)行檢測(cè),并對(duì)未確診的陽性結(jié)果進(jìn)行基因全序列分析。結(jié)果:1.310例中,9例存在耳聾基因突變,陽性率為2.90%(9/310),其中,IVS7-2AG雜合突變4例(1.29%,4/310),1229CT純合突變1例(0.32%,1/310),1229CT雜合突變1例(0.32%,1/310),SLC26A4 1226GA復(fù)合雜合突變1例(0.32%,1/310),IVS7-2AG/IVS11+47T㧐C/1548insC復(fù)合雜合突變2例(0.65%,2/310)。2.漢族突變4例,陽性率為3.15%(4/127),其中,1229CT雜合突變1例(0.79%,1/127),1229CT純合突變1例(0.79%,1/127);IVS7-2AG雜合突變2例(1.57%,2/127)。壯族突變5例,陽性率為2.99%(5/167),其中IVS7-2AG雜合突變2例(1.20%,2/167),IVS7-2AG/IVS11+47T㧐C/1548insC復(fù)合雜合突變2例(1.20%,2/167),SLC26A4 1226GA復(fù)合雜合突變1例(0.60%,1/167)。壯族與漢族之間的差異無統(tǒng)計(jì)學(xué)意義。3.耳聾家族史患者44例中,3例患者出現(xiàn)SLC26A4基因突變陽性(6.82%,3/44)。4.SLC26A4在聾�；颊�90例中突變3例(3.33%,3/90)、人工耳蝸43例突變2例(4.65%,2/43)、聽力篩查未通過患者突變2例(5%,2/40)、突發(fā)性耳聾患者中尚未發(fā)現(xiàn)相關(guān)基因突變。結(jié)論:1.廣西地區(qū)感音神經(jīng)性聾患者SLC26A4的8個(gè)常見致聾位點(diǎn)突變檢出率較全國平均水平偏低,主要以IVS7-2AG突變位點(diǎn)為主。2.廣西地區(qū)壯族與漢族感音神經(jīng)性聾患者之間常見致聾基因突變率的比較無明顯差異;3.IVS11+47TC位點(diǎn)和1548insC位點(diǎn)為新發(fā)現(xiàn)的2個(gè)突變位點(diǎn),廣西地區(qū)可能存在罕見的致聾基因突變位點(diǎn)。
[Abstract]:Objective: to detect the common mutation sites of SLC26A4 gene in sensorineural deaf-deaf population in Guangxi, and to analyze the characteristics of SLC26A4 common deafness gene mutation in Guangxi, so as to provide reference for clinical prevention and treatment of deafness. Methods: 90 deafness patients in 3 special education schools of Duan County, Fusui County and Wuming County, Guangxi, 43 patients who received cochlear implantation in our hospital and 40 patients who had not passed the hearing screening in outpatient clinic were studied. 137 patients with sudden deafness, a total of 310 patients with deafness. There were 194 males, 116 females, 167 Zhuang, 127 Han, 12 Yao, 2 Miao, 1 Dong, 1 Mulao, 170 prelingual deafness, 140 postverbal deafness, 31 sensorineural moderate deafness, 24 severe deafness, 255 extremely severe deafness. 44 patients with family history of deafness underwent unilateral cochlear implantation and 1 received bilateral cochlear implantation. All the subjects collected peripheral blood and extracted genomic DNA for PCR amplification, using the crystal core provided by Boo Biological Co., Ltd. Fifteen genetic deafness gene detection kits (microarray chip method) were used to detect 8 mutation sites of SLC26A4 in genomic DNA of the sample. The unconfirmed positive results were sequenced. Results 9 out of 1.310 cases had deafness gene mutation, the positive rate was 2.90% or 9 / 310%, among which 4 cases were heterozygous mutations of IVS7-2AG, 4 cases were 1.29% 31029CT homozygous mutation 1 case was 0.32% / 1231029CT heterozygous mutation 1 case was 0.321p / 1231010CT heterozygous mutation, 1 case was 0.32p-1 / 1310c26A4 1226GA complex heterozygous mutation 1 case was 0.32 / 1101011010V IVS7-2r-IVS11 47T?C/1548insC complex heterozygous mutation 2 cases were 0.652P / 231010 / 2. There were 4 cases of Han mutation, the positive rate was 3.15% and 4 / 127%, among them, 1 case of 1229CT heterozygous mutation was 0.79 / 127 CT homozygous mutation, 1 case was 0.79 / 127% IVS7-2AG heterozygous mutation, 2 cases (1.57%) were heterozygous mutation of IVS7-2AG. There were 5 cases of Zhuang mutation, the positive rate was 2.99% / 167%, of which 2 cases of IVS7-2AG heterozygosity mutation were 1.20% or 1.20%, and 2 cases of IVS7-2AGR / IVS11 47T?C/1548insC compound heterozygosity mutation 2 cases were 1.207-2AGR / IVS11 47T?C/1548insC complex heterozygosity mutation. One case of complex heterozygosity mutation of SLC26A4 1226GA was 0.601 / 167G. There was no significant difference between Zhuang and Han nationality. In 44 patients with family history of deafness, 3 of 44 patients with SLC26A4 gene mutation were found to be positive for SLC26A4 gene mutation. 4. SLC26A4 mutation was found in 3 out of 90 deaf school patients. 3 of 90 patients with hearing loss had a mutation of 3.33 / 90, 2 of 43 patients with cochlear implants had mutation of 4.65 / 43, 2 of them did not pass the screening of patients' mutation, and 2 of the patients with sudden deafness suffered from sudden deafness. No related gene mutations have been found. Conclusion 1. The detection rate of 8 common deafness loci in patients with sensorineural deafness in Guangxi was lower than the national average, mainly IVS7-2AG mutation loci. There was no significant difference in the mutation rate of common deafness gene between Zhuang nationality and Han nationality in Guangxi. The 47TC and 1548insC loci of IVS11 were two newly discovered mutation sites, and there might be rare mutation loci of deafness gene in Guangxi.
【學(xué)位授予單位】：廣西中醫(yī)藥大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R764.43

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