By George R. Honig M.D., Ph.D., Junius G. Adams III Ph.D. (auth.)
The discovery within the past due 1940's that sickle phone anemia is a "molecular disorder" of hemoglobin was once the the most important boost that gave delivery to the medical self-discipline of human molecular genetics. In next years, with the ongoing growth of data in regards to the biology and genetics of the hemoglobins, and especially because of the characterization of the very huge numbers of globin gene mutations, the human hemoglobin process has remained because the most popular version of gene expression on the molecular point in guy. With the hot explosion of recent information regarding the genetic homes of the hemoglobins, it sounds as if inevitable that this gene method will proceed to occupy a special place in human molecular genetics for a few years sooner or later. Hemoglobin genetics has additionally lately come of age as a diagnostic and medical self-discipline. The heightening of public wisdom lately approximately sickle phone ailment, thalassemia, and different inherited issues has introduced expanding calls for for provider detection providers in addition to for genetic counseling and schooling. The more moderen improvement of prac tical and trustworthy tools for the antenatal analysis of hemoglobin dis orders has extra elevated the scope of medical hemoglobin genetics, and it may be expected that those powerful diagnostic innovations could have expanding software within the years ahead.
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Extra info for Human Hemoglobin Genetics
Although globin genes were not expressed in the fibroblasts, these workers were able· to identify cell lines containing human globin genes'by DNA molecular hybridization determinations, utilizing a- and ~ globin-specific cDNA's. Under the experimental conditions which were employed, the cDNA probes hybridized with the human globin genes but Globin Gene Localization and Organization 49 not with those of the mouse. A feature of the human/mouse fibroblast lines that proved to be particularly useful for these studies was their frequent selective loss of human chromosomes.
22. , 1980). In the study by Lebo et al. metaphase chromosomes were isolated from human fibroblasts and were physically separated into 14 discrete fractions by means of a fluorescence-activated cell sorter; it could then be shown that the ~-, 0-, and y-globin genes were present in the fraction containing chromosome 11, and the a-globin gene in the fraction containing chromosome 16. These workers also applied this technique to human cell lines carrying a variety of chromosomal translocations, and from their findings were able to establish that the ~-, 0-, and y-gene loci are localized to the short arm of chromosome 11.
Amino acid abbreviations are listed in Table 1. The ATG (Met) codon also signals chain synthesis initiation. Term = termination codon. The codons in messenger RNA are the same as those indicated, except that thymine (T) is replaced by uracil (U). B. Recent Methodologic Advances in the Study of Genes and Their Structure The last decade has witnessed an explosion of new knowledge about the organization and structure of many different gene systems. A remarkably detailed portrayal of the human globin genes has emerged, and in addition the genetic abnormalities of many of the forms of thalassemia and other globin gene disorders have been determined from direct analyses of their mutant genes.