本文選題：聽力篩查 + 耳聾基因　； 參考：《中國(guó)兒童保健雜志》2014年10期

【摘要】：目的對(duì)聽力初篩未通過(guò)的新生兒進(jìn)行聾病易感基因篩查,探討新生兒聽力聯(lián)合基因篩查的意義。方法應(yīng)用飛行時(shí)間質(zhì)譜技術(shù),對(duì)622例聽力初篩未通過(guò)新生兒進(jìn)行GJB2、GJB3、線粒體12SrRNA、SLC26A4 4種常見耳聾易感基因的檢測(cè),檢測(cè)位點(diǎn)包含了以上基因的20個(gè)熱點(diǎn)突變位點(diǎn)。結(jié)果 622例聽力初篩未通過(guò)新生兒中,檢出耳聾基因突變48例,陽(yáng)性率7.72%。其中GJB2突變32例,占總檢出率的66.67%,SLC26A4突變11例,占22.91%,GJB3突變5例,占10.42%,GJB2基因突變檢出率明顯高于SLC26A4突變和GJB3突變(χ2=25.767,P0.01),未檢測(cè)到線粒體DNA基因1494CT和1555AG突變。確診聽力損失7例,其中3例耳聾基因檢測(cè)陽(yáng)性,分別為GJB2 235delC純合突變、GJB2 235delC雜合突變和GJB3 538C→T雜合突變。結(jié)論聽力初篩未通過(guò)新生兒聾病基因陽(yáng)性率較高,可作為目標(biāo)人群進(jìn)行耳聾易感基因篩查,新生兒聽力聯(lián)合耳聾易感基因篩查,有助早期發(fā)現(xiàn)聽力損失病因,早期確診并干預(yù)。
[Abstract]:Objective to screen the predisposing genes for hearing loss in newborns without primary screening of hearing, and to explore the significance of combined screening of hearing and hearing in newborns. Methods using time-of-flight mass spectrometry (TMS), four common deafness susceptibility genes (GJB2GJB3, mitochondrial 12SrRNA-SLC26A4) were detected in 622 unscreened newborns. The detected sites included 20 hot spot mutation sites of the above genes. Results among 622 newborns without hearing screening, 48 cases were found to have deafness gene mutation, the positive rate was 7.72%. There were 32 cases of GJB2 mutation, 11 cases of SLC26A4 mutation, and 5 cases of GJB3 mutation, accounting for 22.91%. The detection rate of GJB2 gene mutation was significantly higher than that of SLC26A4 mutation and GJB3 mutation (蠂 2 + 25.767 GJB2 gene mutation, P 0.01). No mitochondrial DNA gene 1494CT and 1555AG mutations were detected. 7 cases of hearing loss were diagnosed, 3 of them were positive for GJB2 235delC homozygous mutation, GJB2 235delC heterozygous mutation and GJB3 538C T heterozygous mutation. Conclusion the positive rate of genes of hearing loss is high in primary screening of hearing, which can be used as target population to screen for susceptible genes of hearing loss. Screening of genes of hearing loss combined with hearing loss in newborns can help to find the cause of hearing loss, early diagnosis and intervention.
【作者單位】： 紹興市婦幼保健院;杭州華大基因研究中心;
【基金】：浙江省公益性技術(shù)應(yīng)用研究計(jì)劃項(xiàng)目(2013C33213)
【分類號(hào)】：R764.43

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本文編號(hào)：1812790