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首页> 外文期刊>Genetic testing and molecular biomarkers >Rapid Identification of Common beta-Thalassemia Mutations in the Chinese Population Using Duplex or Triplex Amplicon Genotyping by High-Resolution Melting Analysis
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Rapid Identification of Common beta-Thalassemia Mutations in the Chinese Population Using Duplex or Triplex Amplicon Genotyping by High-Resolution Melting Analysis

机译：常见的beta-Thalassemia的快速识别使用双突变在中国人口通过高分辨率或三层扩增子的基因融化的分析

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摘要

b-Thalassemia is one of the most prevalent inherited diseases in China. To date, over 20 beta-thalassemia mutations have been identified in the Chinese population, and four mutations [CD41-42 (-4 bp), IVS-2-654C -> T, CD17A -> T, and -28A -> G] account for similar to 90% of the cases. Therefore, the exploration of simple, reliable, and rapid approaches for molecular detection of these common mutations is important for prevention and early diagnosis of the disease. High-resolution melting (HRM) analysis is a new technique for mutation detection that has the advantages of rapidity, accuracy, and convenience. Building on one-amplicon genotyping by HRM analysis, we developed duplex and triplex amplicon genotyping to simultaneously identify these common beta-thalassemia mutations in patients or carriers. Two or three sets of primers were combined to conduct duplex or triplex amplicon genotyping, which distinguished a variety of genotypes by HRM based on the melting curve shapes. Seventy-one DNA samples from beta-thalassemia traits or patients were analyzed using the described approaches and 65 were identified to carry the 4 common beta-thalassemia alleles including 56 heterozygous mutations [23 for CD41-42 (-4 bp), 18 for IVS-2-654C -> T, 11 for CD17A -> T, and 4 for -28A -> G], 3 homozygous mutations for IVS-2-654C -> T, and 6 compound heterozygous mutations [CD41-42 (-4 bp)/IVS-2-654C -> T (4 cases), -28A -> G/CD17A -> T (1 case), IVS-2-654C -> T/CD17A -> T (1 case)]. The whole procedure for mutation detection was completed within only half an hour. The results derived from HRM analysis were fully in accordance with sequencing. We suggest this rapid and accurate method for molecular screening to detect the common beta-thalassemia mutations in the Chinese population as well as in other ethnic groups and nationalities in which the above four beta-alleles are prevalent.
机译：b-Thalassemia是其中一个最普遍在中国的遗传性疾病。beta-thalassemia突变已确定在中国人口,和四个突变[CD41-42 bp(4),静脉注射- 2 - 654 - c > T, CD17A - > T,和-28 - - - > G)占90%的相似用例。可靠和快速分子的方法这些常见突变的检测是很重要的的预防和早期诊断疾病。是基因突变检测的新技术具有速度、准确性和方便。通过人力资源管理分析,我们开发了双和三层扩增子的基因同时识别这些常见的beta-thalassemia突变患者或携带者。引物组合进行双工或杰出的三缸扩增子的基因人力资源管理根据不同的基因型融化曲线形状。从beta-thalassemia特征或患者分析了使用方法和描述的65年携带4普遍吗beta-thalassemia等位基因包括56的杂合突变(23 CD41-42 bp (4),为静脉注射18 - 2 - 654 c > T, 11 CD17A - > T, 4-28 - > G), 3纯合突变静脉注射- 2 - 654 c > T,和6复合杂合的突变(CD41-42 (4 bp) /静脉注射- 2 - 654 c > T (4情况下),-28 - > G / CD17A - > T(1例),静脉注射2 - 654 c- > T / CD17A > T(1例)。突变检测只是内完成半个小时。分析完全符合测序。分子筛选检测的方法常见beta-thalassemia突变在中国在其他民族和人口以及以上四个民族beta-alleles普遍存在。

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