Kazazian H H, Orkin S H, Boehm C D, Sexton J P, Antonarakis S E
Am J Hum Genet. 1983 Sep;35(5):1028-33.
Sickle-cell anemia results from an A leads to T transversion in the second nucleotide of codon 6 of the beta-globin gene. We now report an uncommon beta-thalassemia gene that contains a deletion of this nucleotide. Thus, one mutation (GAG leads to GTG) produces sickle-cell anemia, while the other (GAG leads to GG) eliminates beta-globin production. These data establish that different alterations affecting one specific nucleotide can produce either an abnormal hemoglobin or beta-thalassemia. Moreover, the nucleotide sequence comprising codons 6-8 of the beta-globin gene appears to be particularly susceptible to mutations affecting nucleotide number.
镰状细胞贫血是由β-珠蛋白基因密码子6的第二个核苷酸由A转换为T所致。我们现在报告一种罕见的β地中海贫血基因，该基因缺失了这个核苷酸。因此，一种突变（GAG变为GTG）导致镰状细胞贫血，而另一种突变（GAG变为GG）则消除了β-珠蛋白的产生。这些数据表明，影响一个特定核苷酸的不同改变可导致异常血红蛋白或β地中海贫血。此外，β-珠蛋白基因密码子6-8的核苷酸序列似乎特别容易受到影响核苷酸数量的突变的影响。
