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目的 初步评价使用单管多重PCR对缺失型α- 地中海贫血(α- 地贫)的诊断效能。方法 使用单管多重PCR基因诊断试剂对 202例血液学方法筛检疑似α- 地贫患者进行基因检测,并对其中部分标本进行测序。结果 疑似为α- 地贫的 202份临床标本,基因检测证实其中 136例为α 地贫,其结果经序列分析证实。与PCR检测相比,一管法红细胞脆性、MCV、MCH与RDW CV检测的灵敏度分别为 85. 29%、99 .44%、73 .53%和 61. 03%,特异性分别为 69 .70%、66 .67%、62 .12%和 60 .61%。在 136例α 地贫患者中, SEA /αα104例、 α3 7 /αα14例、 α4 2 /αα4例、 α3 7 / 4 2. 11例和 α4 2 / SEA3例,分别占76 47%、10 29%、2. 94%、8. 09%和 2 .21%。结论 与血液学方法相比,多重PCR检测具有快速、准确的优点,可用于人群和临床样品的缺失型α 地贫的分子筛查以及产前诊断。
Objective To evaluate the diagnostic efficacy of single-tube multiplex PCR for deletional α-thalassemia (α-thalassemia). Methods Single-tube multiplex PCR gene diagnostic reagents were used to detect 202 cases of suspected α-thalassemia gene by hematology method, and some of them were sequenced. The results were suspected of α-thalassemia 202 clinical samples, of which 136 were confirmed by genetic testing α-thalassemia, the results confirmed by sequence analysis. Compared with PCR, the sensitivities of one tube of erythrocyte fragility, MCV, MCH and RDW CV were 85.29%, 99.44%, 73.53% and 61.03% respectively, and the specificity was 69.70 %, 66.67%, 62.12% and 60.61%. In 136 patients with α-thalassemia, 14 cases of SEA / αα, 14 cases of α3 7 / αα, 4 cases of α4 2 / αα, 2 cases of α3 7/4 and 3 cases of α4 2 / SEA accounted for 76 47% and 10 29% , 2.94%, 8.90% and 2.21% respectively. Conclusion Compared with hematology, multiplex PCR is rapid and accurate and can be used in molecular screening and prenatal diagnosis of deletional α-thalassemia in population and clinical samples.