Olivieri N F, Chang L S, Poon A O, Michelson A M, Orkin S H
Blood. 1987 Sep;70(3):729-32.
The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A----G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.
对一个祖籍加拿大的黑人家庭中血红蛋白H病的分子基础进行了研究。受影响个体在不同染色体上存在缺失型和非缺失型α地中海贫血突变的组合。对一名具有非缺失型的成员的DNA进行克隆和测序，发现在一条向右（-α3.7）缺失染色体上剩余的α珠蛋白基因的起始密码子处有一个新的地中海贫血突变，即A→G替换。该突变消除了一个NcoI限制酶切位点，因此可通过Southern印迹分析在基因组DNA中检测到。
