發(fā)布時(shí)間：2019-06-20 06:50

【摘要】：目的驗(yàn)證十五項(xiàng)遺傳性耳聾基因檢測(cè)試劑盒(微陣列芯片法)在臨床耳聾基因檢測(cè)的準(zhǔn)確性及有效性。方法采用420例解放軍總醫(yī)院臨床門(mén)診病人或住院病人的全血,其中未攜帶突變的樣本103例,攜帶基因突變樣本317例,包括50例大前庭水管綜合征患者;對(duì)血樣進(jìn)行隨機(jī)編盲,并用十五項(xiàng)遺傳性耳聾基因檢測(cè)芯片檢測(cè),以九項(xiàng)遺傳性耳聾基因檢測(cè)試劑盒(微陣列芯片法)及測(cè)序法作為對(duì)比方法進(jìn)行比較。結(jié)果檢測(cè)結(jié)果顯示,本組病人樣本的各位點(diǎn)檢測(cè)探針的靈敏度達(dá)100%,特異性達(dá)100%,與對(duì)比方法的檢測(cè)結(jié)果一致性達(dá)100%;經(jīng)χ2檢驗(yàn)和Kappa值分析,兩種方法的檢測(cè)結(jié)果無(wú)顯著性差異,一致性較好。結(jié)論十五項(xiàng)遺傳性耳聾基因檢測(cè)試劑盒(微陣列芯片法)的臨床檢測(cè)結(jié)果穩(wěn)定、可靠,通量較高,基本滿足臨床遺傳性耳聾基因檢測(cè)需求,并進(jìn)一步提高大前庭水管綜合征(EVAS)患者的陽(yáng)性檢出率和確診率。
[Abstract]:Objective to verify the accuracy and effectiveness of fifteen genetic deafness gene detection kits (microarray chip method) in clinical deafness gene detection. Methods the whole blood of 420 clinical outpatients or inpatients in PLA General Hospital was used, including 103 samples without mutation and 317 samples carrying gene mutation, including 50 patients with large vestibular aqueduct syndrome. The blood samples were randomly blinded and detected by 15 genetic deafness gene detection microchips. Nine hereditary deafness gene detection kits (microarray chip method) and sequencing methods were compared. Results the results showed that the sensitivity and specificity of the probes were 100% and 100%, respectively, which were consistent with those of the comparative method, and there was no significant difference between the two methods by Chi ~ 2 test and Kappa value analysis, and the consistency between the two methods was good. Conclusion the clinical detection results of fifteen genetic deafness gene detection kits (microarray chip method) are stable, reliable and fluxes, which basically meet the needs of clinical hereditary deafness gene detection, and further improve the positive rate and diagnostic rate of (EVAS) patients with large vestibule aqueduct syndrome.
【作者單位】： 解放軍總醫(yī)院耳鼻咽喉頭頸外科;博奧生物有限公司暨生物芯片北京國(guó)家工程研究中心;解放軍總醫(yī)院海南分院耳鼻咽喉頭頸外科;
【基金】：國(guó)家自然科學(xué)基金重點(diǎn)項(xiàng)目(81230020);國(guó)家自然科學(xué)基金面上項(xiàng)目(81371096,81371098);國(guó)家自然科學(xué)基金青年項(xiàng)目(No.81000415) 國(guó)家科技支撐計(jì)劃項(xiàng)目(No.2012BAI09B02) 國(guó)家重點(diǎn)基礎(chǔ)研究發(fā)展計(jì)劃(973計(jì)劃)(No.2014CB541706) 科技部863計(jì)劃(No.2012AA020101) 國(guó)家衛(wèi)生行業(yè)科研專項(xiàng)項(xiàng)目(No.201202005) 北京市科技新星計(jì)劃(No.2010B081,2009B34)
【分類號(hào)】：R764.43

【參考文獻(xiàn)】

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