文档介绍：地中海贫血复合缺失型α地中海贫血双重杂合子的分子检测及血液
【摘要】本研究对β地中海贫血复合缺失型α地中海贫血双重杂合子进行分子检测及血液学表型分析,以了解其检出情况及基因分布状况。采用单管多重gapPCR技术检测3种常见的缺失型α地中海贫血基因;采用PCR结合反向点杂交法检测β珠蛋白基因17个位点的18种突变;进行血细胞常规分析。结果表明: 81例β地中海贫血杂合子中有15例复合缺失型α地中海贫血,%。共有9种基因型,包括6例(%)β地中海贫血杂合子携带α地中海贫血1基因(SEA/αα);8例(%)携带α地中海贫血2基因,其中6例(%)为右侧缺失型(),2例(%)为左侧缺失型(-);1例(%)携带缺失型HbH基因(SEA /)。β地中海贫血复合缺失型α地中海贫血双重杂合子的各项红细胞参数与单纯β地中海贫血杂合子比较差异无显著性意义(P&gt;)。结论:梧州市β地中海贫血复合缺失型α地中海贫血双重杂合子的发生率很高,而血液学指标缺乏特异性。采用gapPCR作为临床上地中海贫血筛查的一线方法,可以有效减少β地中海贫血复合α地中海贫血双重杂合子漏检的可能,对遗传咨询和准确进行产前诊断具有重要意义。
【关键词】地中海贫血α地中海贫血β地中海贫血杂合子
Molecular Detection and Haematological Analysis of Heterozygotes in βbining Deletional αthalassemia
Abstract This study ed to investigate the prevalence and genotype distribution of heterozygotes in βbining deletional αthalassemia by using molecular detection and haematological methods. mon deletions of αthalassemia utations of βthalassemia the 81 βthalassemia traits pound heterozygosity for βthalassemia and αthalassemia ia bining αthalassemia1 gene(SEA /αα), 8 cases (%) combining ia2 gene including 6 (%) right bining deletional HbH gene(SEA /). No significant differences ia bining deletional αthalassemia and pure βthalassemia in all RBC parameters. It is concluded that the incidence of βthalassemia bining ia is frequent in atological analysis