DHPLC快速诊断中国人静止型-α^(4.2)地中海贫血  

A rapid and simple method for -α^(4.2) thalassemia identification by DHPLC

作　　者：欧阳鸿[1] 华亮[2] 曹东林[1] 白英明[3] 徐湘民[2] 

机构地区：[1]第一军医大学分校生化教研室,广东省广州市510315 [2]第一军医大学医学遗传学教研室,广东省广州市510515 [3]第一军医大学分校检验教研室,广东省广州市510315

出　　处：《第一军医大学分校学报》2003年第2期81-84,共4页Journal of Branch Campus of the First Military Medical University

摘　　要：目的　开发基于断裂点序列信息的 -α4.2 缺失检测技术。方法　对中国人 -α4.2 基因断裂点区域及其正常同源片断的进行测序获得可用于基因诊断的信息 ,设计PCR/DHPLC方法快速检测 -α4.2 基因。结果　序列同源性分析表明 :1个包含 4个单核苷酸位点的单体型存在于所有的 1 0个中国人 -α4.2 基因中 ,采用盲法检测了 4 0个样本的基因型以验证DHPLC方法的可靠性 ,检测结果和Gap -PCR的完全一致。结论　DHPLC是一种快速、敏感和可靠的 -α4.2Objective To develop the assay for specific genotyping the -α 4.2 deletion relied on the DNA sequence features around the breakpoint.Methods The breakpoint region of -α 4.2 allele and the normal homologous segments encompassing 5 and 3 breakpoints in Chinese individuals were sequenced,and DHPLC was designed to genotyping the -α 4.2 allele.Results A sequence haplotype composed of four single nucleotide variances within the X2/X1 box of the -α 4.2 breakpoint region was found in all of ten Chinese -α 4.2 thalassemia alleles,and the accuracy of DHPLC was evaluated by a blind analysis for genotyping 100% (40/40) of samples previously characterized by Gap-PCR.Conclusion DHPLC is a simple,rapid,highly accurate and cost-effective assay for the epidemiological survey,genetic screening and diagnosis of the -α 4.2 thalassemia.

关 键 词：中国人 -α^4.2地中海贫血 变性高效液相色谱法 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R394[医药卫生—内科学]