摘要
目的通过高效液相色谱检测β-地中海贫血常见的基因型。方法通过多重引物延伸反应同时扩增β-地中海贫血常见的突变位点,基于长度区分不同位点野生型引物和突变型引物扩增产物,并将待检品与标准品检测结果进行对比,以辨别待检样本的基因型。结果建立了稳定的高效液相色谱检测点突变技术平台,实现了对β-地中海贫血常见基因型的快速检测,通过对质粒样本、临床病例样本的验证,完全符合质粒样本测序、患者基因组检测的结果。结论高效液相色谱检测β-地中海贫血具有快速、简便、样品量少等优点,其为遗传病点突变提供了新的检测手段。
Objective To detect β-thalassemia by high performance liquid chromatography （HPLC） and provide a rapid and sensitive detection technique for point mutation of genetic disorders. Methods Six mutation loci were amplified by the approach of multiplex primer- extension reaction. The samples were amplified by the wild primers and mutation primers. The genotype could be known according the PCR products size. Results A steady system to detect the point mutation by HPLC was constructed and by the patient＇ s sample. The results were according with sequencing of the patients＇ samples. Conclusion The method can detect thalassemia rapidly and conveniently with less samples and be useful for the detection of point mutations.
出处
《免疫学杂志》
CAS
CSCD
北大核心
2007年第6期683-686,共4页
Immunological Journal
关键词
点突变
地中海贫血
遗传病
高效液相色谱
Point mutation
Thalassemia
Heredity disorder
High performance liquid chromatography
