本文選題：頰粘膜拭子 + 孤獨癥譜系障礙��； 參考：《中國神經精神疾病雜志》2014年07期

【摘要】：目的探討應用頰粘膜拭子采集樣本以提取DNA進行孤獨癥譜系障礙(autism spectrum disorder,ASD)相關基因檢測的可行性。方法納入41例ASD患兒。采用棉拭子擦拭患兒頰粘膜,酚-氯仿-異戊醇法抽提基因組DNA;另采集患兒外周靜脈血,用試劑盒提取基因組DNA。比較兩種取材方法獲得的基因組DNA總量、濃度與純度。應用PCR-限制性酶切法對亞甲基四氫葉酸還原酶(methylenetetra-hydrofolate reductase,MTHFR)基因C677T位點進行基因型分析,比較兩種取材法獲得的基因分型結果一致性。結果從頰粘膜提取的基因組DNA總量([5.87±2.58)μg vs(.2.00±0.92)μg]與濃度([143.25±72.78)mg/L vs(.66.68±24.43)mg/L]高于200μL血液提取的基因組DNA(P0.01),而純度與血液樣本比較差異無統(tǒng)計學意義(P0.05)。兩種取材法進行MTHFR基因分型結果完全一致,并經Sanger測序驗證。結論頰粘膜拭子是一種簡單、無創(chuàng)、可靠的獲取基因組DNA方法,可部分替代靜脈血進行ASD相關基因多態(tài)性分析。
[Abstract]:Objective to investigate the feasibility of using buccal mucosal swabs to extract DNA for detection of autistic spectrum disordersrelated genes. Methods 41 children with ASD were included. The genomic DNA was extracted from the buccal mucosa by cotton swab and the genomic DNA was extracted by phenol-chloroform-isoamyl alcohol method. The total amount, concentration and purity of genomic DNA obtained by two methods were compared. The C677T locus of methylenetetrahydrofolate reductase (MTHFR) gene was analyzed by PCR- restriction enzyme digestion method. Results the total amount of genomic DNA extracted from buccal mucosa ([5.87 鹵2.58) 渭 g vs(.2.00 鹵0.92 渭 g] and the concentration ([143.25 鹵72.78)mg/L vs(.66.68 鹵24.43)mg/L]) were higher than that of 200 渭 L blood samples. The results of MTHFR genotyping by two methods were identical and confirmed by Sanger sequencing. Conclusion buccal mucosal swab is a simple, noninvasive and reliable method for obtaining genomic DNA, which can partly replace venous blood for ASD related gene polymorphism analysis.
【作者單位】： 山東大學齊魯兒童醫(yī)院兒童研究所;山東大學齊魯兒童醫(yī)院 山東省孤獨癥兒童康復中心;
【分類號】：R749.94
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本文編號：1990940