正常人及血红蛋白J墨西哥型患者单倍体基因组中每个有两个α-珠蛋白基因的证明。

Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico.

作者信息

Tolstoshev P, Williamson R, Eskdale J, Verdier G, Godet J, Nigon V, Trabuchet G, Benabadji M

出版信息

Eur J Biochem. 1977 Aug 15;78(1):161-5. doi: 10.1111/j.1432-1033.1977.tb11725.x.

DOI:10.1111/j.1432-1033.1977.tb11725.x

PMID:71990

Abstract

Complementary DNA (cDNA) was prepared with viral RNA-dependent DNA polymerase using human globin messenger RNA (mRNA) as template. By selective hydridization to globin mRNA from beta-thalassaemics a probe which was greater than 85% complementary to alpha-globin mRNA was purified. This was hybridized in cDNA excess to human genomic DNA, and the rate and extent of hybridization confirmed that there are two genes for alpha-globin per haploid genome. Cellular DNA was also prepared from peripheral blood from cases expressing the alpha-globin chain mutant Hb J Mexico to varying extents. This DNA was identical in hybridization behaviour to normal DNA demonstrating that the imbalanced mutant chain synthesis seen physiologically is not due to a gene deletion.

摘要

以人珠蛋白信使核糖核酸（mRNA）为模板，用病毒依赖RNA的DNA聚合酶制备互补DNA（cDNA）。通过与β地中海贫血患者的珠蛋白mRNA进行选择性杂交，纯化出一种与α珠蛋白mRNA互补性大于85%的探针。将该探针与过量的cDNA与人基因组DNA杂交，杂交的速率和程度证实单倍体基因组中存在两个α珠蛋白基因。还从不同程度表达α珠蛋白链突变体Hb J Mexico的病例的外周血中制备了细胞DNA。该DNA在杂交行为上与正常DNA相同，表明生理上观察到的突变链合成失衡并非由于基因缺失。