【摘要】 <正> 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。更多还原

【Abstract】 Feasibility of prenatal diagnosis of β-thalassemia by restriction fragment length polymorphisms (RFLP) was studied. 4 restriction enzymes(HincⅡ, HindⅢ,,AvaⅡ and BamHI) and 4 β-like gene probes (ε γ, ψβ and β) were employed for Southern-blotting genome DNAs from 15 β-thalassemia kindreds. Haplotypes composed of 7 polymorphic sites were made. Analysis with combination of haplotypes and kindreds showed that 12 of 15 cases could be diagnosed completely (100%) and the other 3 partially (50%) . So RFLPs are principally available for prenatal diagnosis of fetus at risk of β-thalassemia in Chinese.更多还原