| 荧光多重PCR对α地中海贫血的基因诊断 |
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| 引用本文： | 文曙,邬玲仟,李崎,潘乾,龙志高,夏家辉,夏昆.荧光多重PCR对α地中海贫血的基因诊断[J].湖南医科大学学报,2003,28(2):123-126. |
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| 作者姓名： | 文曙 邬玲仟 李崎 潘乾 龙志高 夏家辉 夏昆 |
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| 作者单位： | [1]中甫大学中国医学遗传学国家重点实验室，长沙410078 [2]粤北人民医院遗传中心，韶关512000 |
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| 摘 要： | 目的：建立一种快速、灵敏的α地中海贫血诊断方法。方法：应用荧光引物对正常人和患者进行多重PCR，同时扩增α1和α2珠蛋白基因和内对照β肌动蛋白(α—actin)，用Perkin E1mer ABI PBISM^TM 377 DNA Sequencer自动分析结果，并对所得救据进行统计。用连锁分析的方法PCR扩增同一批模板α2珠蛋白基因上游的(CA)n，跑变性胶并将结果与前一种方法对照。结果：荧光多重PCR自动分析和扩增(CA)n连锁分析得出的结论与实际情况完全相符，结果判断容易。结论：荧光多重PCR法灵敏、简便，单管内就能完成，适合运用于α地中海贫血的快速诊断，并有可能运用于移植前诊断和母体外周血分离胎儿有核红细胞产前诊断。
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| 关 键 词： | 荧光多重PCR α地中海贫血 基因诊断 α2珠蛋白基因 β肌动蛋白 |
Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction] |
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| Shu Wen,Ling-qian Wu,Qi Li.Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction][J].Bulletin of Hunan Medical University,2003,28(2):123-126. |
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| Authors: | Shu Wen Ling-qian Wu Qi Li |
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| Institution: | National Laboratory of Medical Genetics, Central South University, Changsha, 410078, China. |
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| Abstract: | OBJECTIVE: To develop an approach to a quick and accurate genetic diagnosis. METHODS: Byusing fluorescence primer, the fragments of alpha 1 and alpha 2-globin gene and internal control: beta-actin were amplified and then the PCR products were analyzed with Perkin Elmer ABI PRISMTM 377DNA Sequencer. Linkage analysis was also performed with (CA)n at the upstream of alpha 2-globin gene. The two methods were compared. RESULT: The fluorescence polymerase chain reaction and the linkage analysis gave the same result, and it was easy to distinguish different genotypes. CONCLUSION: The multipilx fluorescence polymerase chain reaction is simple, sensitive and feasible for rapid diagnosis of alpha thalassemia, and may be utilized for the genetic diagnosis of the pre-transplantation and the diagnosis by fetal nucleated erythrocytes in maternal blood. |
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