【摘要】：216例雙側(cè)聽(tīng)力障礙嬰幼兒顳骨影像學(xué)與基因相關(guān)性研究 目的：分析聽(tīng)力障礙嬰幼兒常見(jiàn)致聾基因突變與顳骨影像學(xué)相關(guān)性。 方法：2009年7月-2012年1月,收集上海及周邊地區(qū)雙側(cè)聽(tīng)力障礙嬰幼兒216例,采外周靜脈血,利用PCR擴(kuò)增目的基因后直接測(cè)序。對(duì)所有患兒進(jìn)行常見(jiàn)致病基因GJB2全編碼序列檢測(cè),SLC26A4.12SrRNA基因高發(fā)位點(diǎn)序列檢測(cè),應(yīng)用Sequencher4.9軟件對(duì)上述測(cè)序結(jié)果進(jìn)行分析。對(duì)全部病例行顳骨CT檢查,收集患兒臨床聽(tīng)力學(xué)資料并隨訪。 結(jié)果：216例雙側(cè)聽(tīng)力障礙患兒中,GJB2致病性突變19例(9%),SLC26A4致病性突變6例(3%),未發(fā)現(xiàn)12SrRNA1555A、1494C基因突變,顳骨CT提示解剖結(jié)構(gòu)畸形者27例(12.5%),前庭導(dǎo)水管擴(kuò)大不伴耳蝸畸形11例(5%)。GJB2基因79GA/235delC突變伴有雙側(cè)內(nèi)聽(tīng)道縮窄。GJB2基因79GA,341AG和109GA純合突變?cè)谳p、中度聽(tīng)力障礙患兒中較多。前庭導(dǎo)水管擴(kuò)張的患兒中,SLC26A4基因7、8外顯子剪切位點(diǎn)c.919-2AG突變?yōu)闊狳c(diǎn)突變。 結(jié)論：GJB2基因79GA,341AG和109GA純合突變可能和輕、中度聽(tīng)力障礙有關(guān)。SLC26A4基因c.919-2AG突變與前庭導(dǎo)水管擴(kuò)張有關(guān)。GJB2基因79GA/235delC突變可能與內(nèi)聽(tīng)道畸形有關(guān)。 51例單側(cè)聽(tīng)力障礙嬰幼兒影像學(xué)及聾病基因突變研究分析 目的：探討先天性單側(cè)聽(tīng)力障礙嬰幼兒顳骨CT、常見(jiàn)致聾基因及臨床聽(tīng)力學(xué)特征。 方法：選取51例單側(cè)聽(tīng)力障礙嬰幼兒,平均年齡0.9歲,排除外耳畸形,抽取外周血提取基因組DNA,檢測(cè)常見(jiàn)致聾基因GJB2、SLC26A4及線粒體12SrRNA1555A、1494C的突變。對(duì)全部病例行顳骨CT檢查,收集患兒臨床聽(tīng)力學(xué)資料并隨訪。 結(jié)果：51例單側(cè)聽(tīng)力障礙患兒中,32%(16/51)顳骨CT異常,其中3例中耳畸形,3例頸靜脈球高位,4例前庭導(dǎo)水管擴(kuò)張；發(fā)現(xiàn)1.9%(1/51)GJB2基因發(fā)生235delC/79GA,341AG致病突變,并伴有耳蝸不發(fā)育；4%(2/51)SLC26A4基因發(fā)生致病突變；未檢測(cè)到12SrRNA1555A、1494C致聾突變。 結(jié)論：?jiǎn)蝹?cè)耳聾患者1/3都有影像學(xué)改變,其中頸靜脈球高位發(fā)生率較高。GJB2和12SrRNA1555A、1494C基因突變?cè)趩蝹?cè)聽(tīng)力障礙中發(fā)生率較低。單側(cè)聽(tīng)力障礙患兒耳蝸畸形可能和GJB2基因突變有關(guān)。
[Abstract]:Imaging and Gene correlation of temporal Bone in 216 infants with bilateral hearing Disorder objective: to analyze the correlation between common deafness gene mutation and temporal bone imaging in infants with hearing impairment. Methods: from July 2009 to January 2012, 216 infants with bilateral hearing impairment were collected from Shanghai and its surrounding areas. Peripheral venous blood was collected. The target gene was amplified by PCR and sequenced directly. All the children were detected by GJB2 full coding sequence of common pathogenic gene SLC26A4.12SrRNA gene, and the results were analyzed by Sequencher4.9 software. Temporal bone CT was performed in all patients. Clinical audiological data were collected and followed up. Results among 216 children with bilateral hearing impairment, 19 (9%) had pathogenicity mutation of GJB2 and 6 (3%) had SLC26A4 pathogenicity mutation. No mutation of 12SrRNA1555An1494C gene was found. According to CT of temporal bone, 27 cases (12.5%) had anatomic structural malformation, 11 cases (5%) of vestibular aqueduct enlargement without cochlear malformation, 11 cases (5%) of 79GA/235delC mutation of GJB2 gene with bilateral constriction of auditory canal, 79GAJB2 gene 79GA341 AG and 109GA homozygous mutation were more common in children with mild and moderate hearing impairment. In children with vestibular aqueduct dilatation, the c.919-2AG mutation at exon 7 of SLC26A4 gene was a hot spot mutation. Conclusion the homozygous mutations of 79-GJB2 gene 79GAA341AG and 109GA may be mild. The c.919-2AG mutation of the. SLC26A4 gene is related to vestibular aqueduct dilatation. The 79GA/235delC mutation of the GJB2 gene may be related to the deformity of the internal auditory tract. Analysis of the genetic mutations in 51 infants with unilateral hearing impairment on imaging and deafness Objective: to investigate the common deafness genes and clinical audiological characteristics of CT, in infants with congenital unilateral hearing impairment. Methods: 51 infants with unilateral hearing impairment, with an average age of 0.9 years, were excluded from the deafness. Genomic DNA, was extracted from the peripheral blood to detect the mutations of common deafness gene GJB2,SLC26A4 and mitochondrial 12SrRNA1555Af1494C. Temporal bone CT was performed in all patients. Clinical audiological data were collected and followed up. Results among 51 children with unilateral hearing impairment, 32% (16 / 51) had abnormal CT in temporal bone, 3 cases of middle ear malformation, 3 cases of high jugular bulbar, 4 cases of dilatation of vestibular aqueduct, 1.9% (1 / 51) GJB2 gene was found to have 235del C / P 79 GA 341AG mutation and cochlear dysplasia. 4% (2 / 51) SLC26A4 gene was pathogenicity mutation, and no 12s rRNA 1555An 1494C deafness mutation was detected. Conclusion: one third of the patients with unilateral deafness have imaging changes, and the incidence of high level of jugular bulb is higher. GJB2 and 12s rRNA 1555Agna 1494C gene mutation is lower in unilateral hearing impairment. Cochlear malformation in children with unilateral hearing impairment may be related to mutation of GJB2 gene.
【學(xué)位授予單位】：復(fù)旦大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類(lèi)號(hào)】：R764

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