自制珠蛋白生成障碍性贫血基因诊断阳性质控品用于室内质控的研究  

Study on Self-Made Positive Quality Control Materials in Thalassemia Gene Diagnosis

作　　者：朱春江[1,2] 石青峰[3] 丁晖[2] 郑海清[2] 郑明慈[1,2] 欧维琳[1] 

机构地区：[1]桂林医学院附属医院儿科,广西桂林541001 [2]桂林医学院附属医院围产医学研究室,广西桂林541001 [3]桂林医学院附属医院检验科,广西桂林541001

出　　处：《实用儿科临床杂志》2010年第21期1659-1661,共3页Journal of Applied Clinical Pediatrics

基　　金：教育部"春晖计划"资助项目(Z2005-2-45005);广西科技厅自然科学基金(桂科自0899013);广西卫生厅课题资助(Z2004103)

摘　　要：目的探讨珠蛋白生成障碍性贫血基因诊断项目室内阳性质控品的制作方法及可行性。方法选取经血型测定、血常规、血红蛋白电泳、珠蛋白生成障碍性贫血基因检测及临床资料分别确诊为--SEA/αα、HbCS杂合子、CD41-42(-TTCT)杂合子的同血型血标本各5～10份,将同基因型的血标本混匀,作为阳性质控品,分装成每管0.1 mL,每次进行珠蛋白生成障碍性贫血基因检测时,取相应的阳性质控品与待测标本同时抽提DNA、PCR扩增、PCR产物分析,从而对珠蛋白生成障碍性贫血基因检测全过程进行质量监控。结果对近5 500余人次的血标本进行珠蛋白生成障碍性贫血基因检测过程中均使用了阳性质控品进行质量监控。在进行缺失型α-珠蛋白生成障碍性贫血基因检测时,有2次检测中均各有一待测标本无电泳条带,阳性质控品和其他待测标本均有电泳条带。点突变型α-珠蛋白生成障碍性贫血和β-珠蛋白生成障碍性贫血的检测过程中未出现失控。结论本阳性质控品制备方法简单、使用方便、成本低、结果稳定,达到对珠蛋白生成障碍性贫血基因诊断过程中有效质量控制的预期目的,适合在临床开展珠蛋白生成障碍性贫血基因诊断项目的实验室推广应用。Objective To explore the assay and feasibility of self-made the positive quality control materials in the thalassemia gene diagnostic programs.Methods According to the results of blood smear,blood routine,hemoglobin electrophoresis,thalassemia gene test and clinical manifestations,the diagnosis of——SEA/αα,HbCS heterozygote and CD41-42（-TTCT）heterozygote could be confirmed,5-10 blood samples of each genotype with the same blood types were selected.The blood samples of the same genotypes were mixed respectively.The mixtures,namely,quality control materials were divided into 0.1 mL per Eppendorf tube.Each time when the routine gene tests of thalassemia were performed,the mixtures concerned were selected to complete the whole gene test procedures together with the other specimens.Results The quality control materials were used in the gene tests of more than 5 500 specimens recently.Among the gene tests of α deletions thalassemia,there were 2 cases out of control.In these 2 cases,specimen showed no bands after electrophoresis while all the other specimens and quality control showed their bands clearly.There were no cases out of quality control appeared among the tests of point mutations detects of both α thalassemia and β thalassemia.Conclusions The quality control materials could be easily made and used.They can well control the quality of gene tests of concerned thalassemia types with low cost.The methods can be well applied for the thalassemia gene diagnosis laboratory.

关 键 词：珠蛋白生成障碍性贫血 质量控制 质控品 基因诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]