不同原理的PCR方法用于地中海贫血产前诊断的验证应用

发布时间：2018-06-02 14:49

本文选题：地中海贫血 + 多重PCR　；参考：《实用医学杂志》2017年06期

【摘要】：目的:评估两种不同技术原理的PCR方法用于地中海贫血(下称"地贫")产前诊断的必要性和可行性。方法 :采用双盲法,对509份产前诊断标本分别采用单管多重PCR法(single-tube multiplex PCR,STMP)+反向点杂交法(reverse dot blot,RDB)、探针熔解曲线法(probe melting curve assay,PMCA)检测常见α-地贫和β-地贫基因突变。两种方法所得结果不一致或少见类型地贫突变时,采用DNA测序分析法确诊。所有产前诊断结果均进行验证或随访。结果 :经STMP+RDB、PMCA检测突变谱不同,α-地贫和β-地贫各有1例结果不同。另STMP+RDB检测灵敏度高于PMCA,其差异性在标本受母血污染时有提示作用。结论:两种不同技术原理的PCR方法进行地贫产前诊断,是必要和可行的,两者具有互补性,可确保结果的可靠性和减少单一技术的缺陷。
[Abstract]:Objective: to evaluate the necessity and feasibility of two different PCR methods for prenatal diagnosis of thalassemia (thalassemia). Methods: double blind method was used to detect the common mutations of 伪 -thalassemia and 尾 -thalassemia genes in 509 prenatal diagnosis samples by single-tube multiplex PCR reverse dot hybridization (reverse dot hybridization) reverse dot blotDNA hybridization and probe melting curve assayam-PMCAs respectively by using probe fusion curve method to detect the mutation of 伪 -thalassemia and 尾 -thalassemia gene. When the results of the two methods were inconsistent or rare type of thalassemia mutation, DNA sequencing analysis was used to confirm the diagnosis. All prenatal diagnosis results were verified or followed up. Results: one case of 伪 -thalassemia and one case of 尾 -thalassemia had different results. The sensitivity of STMP RDB was higher than that of PMCA. Conclusion: it is necessary and feasible to make prenatal diagnosis of thalassemia by two PCR methods with different technical principles. The two methods are complementary to each other and can ensure the reliability of the results and reduce the defects of a single technique.
【作者单位】：广东省珠海市妇幼保健院检验科珠海市医学遗传研究所;
【分类号】：R440;R714.5

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