多重聚合酶链反应在α-地中海贫血诊断中的应用

Genetic diagnosis of α-thalassemia by multiple-PCR

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 multiple polymerase chain reaction(PCR)for genetic diagnosis of α thalassemia Methods 202 suspected α thalassemia clinical blood samples, prescreened by standard hematological analysis techniques, were characterized by single tube multiple PCR assay and some products of PCR were sequenced Results Of 202 samples suspected α thalassemia, 136 were diagnosised as α thalassemia determinants Patients with genotypes of SEA /αα, α 3 7 /αα, α 4 2 /αα, α 3 7 / SEA and α 4 2 / SEA were detected in 104 (76 47%), 14(10 29%), 4(2 94%), 11(8 09%) and 3 (2 21%)cases by PCR, respectively The results were confirmed by the genomic sequencing Conclusions PCR is a rapid, specific and reliable method for detecting α thalassemia deletional determinants in comparison with hematological method