β-地中海贫血(简称β-地贫)的分子基础主要是点突变。目前全球范围已发现100种以上此类突变。中国人群中有18种。随着PCR技术的应用,以等位基因特异性寡核苷酸(ASO)探针杂交为代表的多种点突变检测技术已被广泛采用,但对于像β-地贫这样有很大异质性的遗传病,采用这些技术进行基因诊断仍较困难,因现有的方法是以逐一“过筛”的策略来 The molecular basis of β-thalassemia (β-thalassemia) is mainly point mutation. More than 100 such mutations have been found worldwide. There are 18 kinds of Chinese people. With the application of PCR technology, a variety of point mutation detection technologies represented by allele-specific oligonucleotide (ASO) probe hybridization have been widely used, but there is a great heterogeneity such as β-thalassemia Genetic disease, genetic diagnosis using these technologies is still more difficult, because the existing method is one by one “sift” strategy