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由于α-珠蛋白结构基因的缺失而引起的α-地中海贫血综合征的发现,使有可能应用任何有核细胞,包括羊水细胞的DNA中的α-珠蛋白基因定量来诊断这类疾病。在本法中,一种与α-珠蛋白的mRNA顺序互补的DNA放射性复制品(cDNA),以逆向转录酶合成。并且在溶液中和细胞DNA杂交,以探查α-珠蛋白结构基因的排列。在适当条件下与细胞DNA“退火”的α-珠蛋白cDNA的量和α-珠蛋白结构基因存在的数目有关。本项研究中,作者除了使用溶液杂交外,也使用了
The discovery of alpha-thalassemia syndrome due to the deletion of the alpha-globin structural gene makes it possible to diagnose such diseases by quantifying the alpha-globin gene in the DNA of any nucleated cells, including amniotic fluid cells. In this method, a DNA radioactive copy (cDNA) complementary to the mRNA sequence of alpha-globin is reverse transcriptase synthesized. And hybridized with cellular DNA in solution to probe the arrangement of the alpha-globin structural gene. The amount of alpha-globin cDNA that is “annealed” to cellular DNA and the number of alpha-globin structural genes present under appropriate conditions. In this study, the authors also used, in addition to solution hybridization