本文選題：遺傳性耳聾 + 熱點突變��； 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,建立簡便,廉價的耳聾基因診斷方法。方法：收集362份耳聾患者全血標本,選取16個耳聾相關(guān)位點,采用Taqman多重?zé)晒舛糠椒▽吮具M行耳聾基因分型,并對其結(jié)果進行測序驗證,進而應(yīng)用統(tǒng)計學(xué)方法卡方檢驗分析數(shù)據(jù)。成果：對廣州362份耳聾標本進行了中國國內(nèi)遺傳性耳聾熱點突變的9個位點(GJB2：35de1G,235de1C,299-300delAT,176-19deAT; GJB3:538T; SLC26A4:919-2AG, 2168AG; MTDNA12srRNA:1555AG,1494CT)及新納入7個耳聾位點熱點突變：GJB2：105GA,OTOF5098C; TMC1:100CT; WFS1:2158AG,2146GA,2596GA; KCNQ4:827GC的基因篩查。9個國內(nèi)遺傳性耳聾熱點突變位點中共檢出6個,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個耳聾突變熱點檢出3個,GJB2:109GA (1.38%); WFS1:2158AG (8.84%); OTOF:5098GC (1.93%).其余位點：35de1G,176-191de116,538CT,100CT,2146GA,2596GA,827GC均未檢出。最終建立了16個位點的Taqman多重?zé)晒舛慷@基因診斷方法。結(jié)論：對于9個國內(nèi)目前的耳聾熱點突變,廣東湛江的遺傳性耳聾熱點突變與全國平均檢出率不同,235de1C,919-2AG檢出率均顯著低于全國水平；另外7個耳聾位點中與聽神經(jīng)病相關(guān)的兩個位點2158AG和5098GC呈現(xiàn)出較高的檢出率,其中2158AG在所有檢出位點中檢出率最高；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�簡單易操作,設(shè)備要求低,價格較低廉,敏感性和特異性均較好的檢測方法。
[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，

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