摘要
前文~[1]曾报道广西一个α,β地中海贫血复合家系的血红蛋白组成及α珠蛋白基因分析结果,并讨论了各成员可能的β珠蛋白基因结构情况。本文利用先进的PCR即基因扩增技术,结合特异寡核苷酸探针斑点杂交及扩增后直接测定DNA序列的技术,进一步研究并彻底搞请了该家系各成员的β珠蛋白基因结构情况。结果显示:母亲及两个弟弟都是编码子41—42TTCT四个碱基缺失造成框架位移所致β地中海贫血的杂合子。父亲与先证者的β基因均属正常。前三个成员均为α地贫复合β地贫,其α与β珠蛋白链合成的不均衡状态得到改善,贫血症状也明显轻。
The hemoglobin composition and α-globin gene analysis on a family of combined α- and β-thalassemia were reported previously . Further studies on β-globin genes of the family have been performed by using PCR, dot hybridization and the direct DNA sequencing. The results show that both the propositus and his father have two normal β-globin genes. His mother is β-thalassemia heterozygoteβA/β41-42) combined α-thalassemia-1 (--/αα) . Both of his brothers are β-thalassemia heterozygotes (βA/β41-42) combined HbH with deletion of three αa-globin genes(-α/--) . Thus, the uneven productions of α and β chains and the anemic syndromes are improved.
关键词
地中海贫血
β珠蛋白基因
PCR
PCR(Polymerase Chain Reaction), Direct-DNA Sequencing, β-Thalas semia, β-globin Gene
