本文選題：遺傳性耳聾 + 熱點(diǎn)突變��； 參考：《廣州中醫(yī)藥大學(xué)》2015年碩士論文

【摘要】：目的：調(diào)查位于中國(guó)南部的廣東湛江遺傳性耳聾的流行分子病因?qū)W,使其遺傳性耳聾基因篩查更具靶向性,提高檢出率；在保證敏感性和特異性的前提下,建立簡(jiǎn)便,廉價(jià)的耳聾基因診斷方法。方法：收集362份耳聾患者全血標(biāo)本,選取16個(gè)耳聾相關(guān)位點(diǎn),采用Taqman多重?zé)晒舛糠椒▽?duì)標(biāo)本進(jìn)行耳聾基因分型,并對(duì)其結(jié)果進(jìn)行測(cè)序驗(yàn)證,進(jìn)而應(yīng)用統(tǒng)計(jì)學(xué)方法卡方檢驗(yàn)分析數(shù)據(jù)。成果：對(duì)廣州362份耳聾標(biāo)本進(jìn)行了中國(guó)國(guó)內(nèi)遺傳性耳聾熱點(diǎn)突變的9個(gè)位點(diǎn)(GJB2：35de1G,235de1C,299-300delAT,176-19deAT; GJB3:538T; SLC26A4:919-2AG, 2168AG; MTDNA12srRNA:1555AG,1494CT)及新納入7個(gè)耳聾位點(diǎn)熱點(diǎn)突變：GJB2：105GA,OTOF5098C; TMC1:100CT; WFS1:2158AG,2146GA,2596GA; KCNQ4:827GC的基因篩查。9個(gè)國(guó)內(nèi)遺傳性耳聾熱點(diǎn)突變位點(diǎn)中共檢出6個(gè),GJB2:235delC (6.08%),299-300delAT (0.83%); SLC26A4:919-2AG (5.25%),2168AG (1.1%); MTDNA12srRNA:1555AG (3.59%),1494CT (1.1%);新納入的7個(gè)耳聾突變熱點(diǎn)檢出3個(gè),GJB2:109GA (1.38%); WFS1:2158AG (8.84%); OTOF:5098GC (1.93%).其余位點(diǎn)：35de1G,176-191de116,538CT,100CT,2146GA,2596GA,827GC均未檢出。最終建立了16個(gè)位點(diǎn)的Taqman多重?zé)晒舛慷@基因診斷方法。結(jié)論：對(duì)于9個(gè)國(guó)內(nèi)目前的耳聾熱點(diǎn)突變,廣東湛江的遺傳性耳聾熱點(diǎn)突變與全國(guó)平均檢出率不同,235de1C,919-2AG檢出率均顯著低于全國(guó)水平；另外7個(gè)耳聾位點(diǎn)中與聽神經(jīng)病相關(guān)的兩個(gè)位點(diǎn)2158AG和5098GC呈現(xiàn)出較高的檢出率,其中2158AG在所有檢出位點(diǎn)中檢出率最高；提示AN是不容忽視的群體,納入湛江遺傳性耳聾基因篩查；Taqman多重?zé)晒舛糠椒ㄊ且粋�(gè)簡(jiǎn)單易操作,設(shè)備要求低,價(jià)格較低廉,敏感性和特異性均較好的檢測(cè)方法。
[Abstract]:Objective: to investigate the epidemic molecular etiology of hereditary deafness in Zhanjiang, southern China, so as to make genetic screening of hereditary deafness more targeted and improve the detection rate. Cheap genetic diagnosis of deafness. Methods: 362 whole blood samples of deafness patients were collected and 16 deafness related loci were selected. The genotyping of deafness was performed by Taqman multiplex fluorescence quantitative method and the results were confirmed by sequencing. Then the statistical method was used to analyze the data by chi-square test. 鎴愭灉錛氬騫垮窞362浠借，

本文編號(hào)：2058907