Lapoumeroulie C, Pagnier J, Bank A, Labie D, Krishnamoorthy R
Biochem Biophys Res Commun. 1986 Sep 14;139(2):709-13. doi: 10.1016/s0006-291x(86)80048-1.
During a systematic screening of Algerian thalassemics by determining the DNA polymorphism haplotypes in the beta globin gene cluster, a novel haplotype was identified. The DNA of a homozygous individual was cloned and sequenced. The mutation, a G----A change, at position 5 of the small intervening sequence, probably interferes with normal splicing events, and, moreover, creates a new Eco RV restriction site that provides a useful diagnostic tool for detecting this condition.
在通过确定β珠蛋白基因簇中的DNA多态性单倍型对阿尔及利亚地中海贫血患者进行系统筛查期间，发现了一种新的单倍型。对一名纯合个体的DNA进行了克隆和测序。该突变位于小间隔序列的第5位，由G变为A，可能会干扰正常的剪接过程，此外，还产生了一个新的Eco RV限制性酶切位点，这为检测这种情况提供了一种有用的诊断工具。
