【摘要】：目的驗證十五項遺傳性耳聾基因檢測試劑盒(微陣列芯片法)在臨床耳聾基因檢測的準確性及有效性。方法采用420例解放軍總醫(yī)院臨床門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;對血樣進行隨機編盲,并用十五項遺傳性耳聾基因檢測芯片檢測,以九項遺傳性耳聾基因檢測試劑盒(微陣列芯片法)及測序法作為對比方法進行比較。結果檢測結果顯示,本組病人樣本的各位點檢測探針的靈敏度達100%,特異性達100%,與對比方法的檢測結果一致性達100%;經χ2檢驗和Kappa值分析,兩種方法的檢測結果無顯著性差異,一致性較好。結論十五項遺傳性耳聾基因檢測試劑盒(微陣列芯片法)的臨床檢測結果穩(wěn)定、可靠,通量較高,基本滿足臨床遺傳性耳聾基因檢測需求,并進一步提高大前庭水管綜合征(EVAS)患者的陽性檢出率和確診率。
[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】：國家自然科學基金重點項目(81230020);國家自然科學基金面上項目(81371096,81371098);國家自然科學基金青年項目(No.81000415) 國家科技支撐計劃項目(No.2012BAI09B02) 國家重點基礎研究發(fā)展計劃(973計劃)(No.2014CB541706) 科技部863計劃(No.2012AA020101) 國家衛(wèi)生行業(yè)科研專項項目(No.201202005) 北京市科技新星計劃(No.2010B081,2009B34)
【分類號】：R764.43

【參考文獻】

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