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首页> 外文会议>International Conference on the Development of Biomedical Engineering in Vietnam >Method for Identifying HbCS Variant in Alpha Globin denes Causing AIpha-Thalassaemia Disease
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Method for Identifying HbCS Variant in Alpha Globin denes Causing AIpha-Thalassaemia Disease

机译：鉴定α球蛋白的HBCS变体的方法，导致AIVHA-Thalassemia疾病

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The Haemoglobin Constant Spring (HbCS) mutation is one of the non-deletion variants with the highest frequency causing Alpha-Thalassaemia disease. High Resolution Melting analysis was developed to detect HbCS mutation on HbA2 gene effectively to decrease the alpha-thalassaemia hereditary for offsprings. Two healthy non-pregnant DNA samples and seven HbCS positive DNA samples was collected and detected by a real-time PCR SYRBGreen assay. The Realtime PCR assay was optimized based on the concentration of PCR reagents like DNA template, DMSO, Mg~(2+). The DNA fragment containing alleles of the mutation is amplified from the assay and will be analyzed by melting curve. According to the normalized melting curve and the temperature shifted different plot, the difference in melting curve shapes present and the genotype of each individual which is related to the disease will be indicated clearly. The HRM method was optimized and developed successfully. The condition with 5% of DMSO and 2.5 mM of MgCl2 is the best PCR condition and gave out the best separated melting curve shape in chscrirninating three various genotypes. This study showed that the HRM analysis is a reliable, incomplex tool and effective cost method for identifying HbCS variant in alpha globin genes and could be applied in clinical diagnostics.
机译：血红蛋白常数弹簧（HBCS）突变是具有最高频率的非缺失变体之一，导致α-丘脑血症疾病。开发出高分辨率熔化分析以有效地检测HBA2基因的HBCS突变，以降低α-地中海血症的后代。收集两个健康的非妊娠DNA样品和七HBCS阳性DNA样品，并通过实时PCR SyrbGreen测定检测。基于DNA模板，DMSO，Mg〜（2+）的PCR试剂的浓度优化了实时PCR测定。突变等位基因的DNA片段从测定中扩增，并通过熔化曲线分析。根据归一化的熔化曲线和温度移位不同的图，将清楚地表明存在于存在的熔融曲线形状的差异和每个疾病的每个单独的基因型。 HRM方法已成功优化和开发。 5％DMSO和2.5mm MGCl 2的病症是最佳的PCR条件，并在CHScrunating三种各种基因型中排出最佳分离的熔化曲线形状。该研究表明，HRM分析是一种可靠的，即络合工具和用于鉴定α球蛋白基因中HBCS变体的有效成本方法，可用于临床诊断。

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