Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico.
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.
D000328:Adult; D004247:DNA / Q000378:metabolism*; D005260:Female; D005796:Genes; D005914:Globins / Q000096:biosynthesis*; D006238:Haploidy; D006441:Hemoglobin A / Q000096:biosynthesis*; D006448:Hemoglobin J / Q000235:genetics*; D006454:Hemoglobins / Q000096:biosynthesis*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007700:Kinetics; D009693:Nucleic Acid Hybridization; D010920:Placenta; D011247:Pregnancy; D012333:RNA, Messenger / Q000378:metabolism; D012194:RNA-Directed DNA Polymerase / Q000378:metabolism; D012156:Reticulocytes / Q000378:metabolism; D013698:Templates, Genetic
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D006448:Hemoglobin J; D005914:Globins; D004247:DNA; D006441:Hemoglobin A; D012194:RNA-Directed DNA Polymerase