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β-地中海贫血(简称地贫)是一类遗传性血液病,分布较广,在我国华南与西南地区相当常见,目前尚无满意的治疗方法。β-地贫患者的基因缺陷,多半是由于点突变所致,往往不涉及限制酶的识别序列,不能用限制酶图谱的方法直接检测。目前多利用人β-珠蛋白基因簇限制酶多态性为连锁标志,通过家系分析,间接地进行诊断。由于不同民族在某些遗传学特征上的可能差异,其β-珠蛋白基因簇限制酶多态性也可能有所不同,因此在利用此法于β-地贫的产前诊断前,我们对这一方法的可行性进行了研究。
β-thalassemia (thalassemia) is a hereditary hematological disease, widely distributed in South China and Southwest China is quite common, there is no satisfactory treatment. β-thalassemia genetic defects, mostly due to point mutations, often do not involve restriction enzyme recognition sequence, can not be directly detected by restriction enzyme mapping method. At present, many people use β-globin gene cluster restriction enzyme polymorphism as a linkage marker, through family analysis, indirect diagnosis. Due to the different genetic characteristics of different ethnic groups, the β-globin gene cluster restriction enzyme polymorphisms may also be different, so using this method in prenatal diagnosis of β-thalassemia, we The feasibility of this method has been studied.