Accumulating, different types of prototype mutants might be avoided if detected early by avoiding marriage between individuals harboring the responsible genes (from each other). Amara in 2015 suggested that prototype mutant in β globin could be a hidden source or sleeping mutants that could be converted to complete mutants (in the future). The other variants collectively can be found in the fetal hemoglobin (HbF:α 2γ 2), sickle cell hemoglobin (HbS:α 2S 2), and a minor adult hemoglobin (HbA2:α 2δ 2). Its four-subunit composition of the normal adult hemoglobin (HbA) are α 2β 2. The folded hemoglobin macromolecules are able to differentiate between O 2 and CO 2. The sensitivity level could be in range can find differences between O 2 and CO 2 molecules. The hemoglobin molecules are highly sensitive to the O 2/ CO 2 exchange. Both of the described reasons are responsible for the image of the disease in the Mediterranean region and West Africans. Livingstone in 1989 described that the disease is concentrated in some parts of the world particularly where the malaria is existed and/or where excessive marriage from relatives over generations is existed as suggested by Amara in 20. Hemoglobin is the oxygen carrier tetrameric molecule and can be found in vertebrate red blood cells, in some invertebrates and in the root nodules of legumes. WHO estimated that 5% of the world populations have hemoglobin disorders. Hemoglobin diseases are a global disease. Like any of the human genes some variant of the globin molecules are existed which controlled by basic genetic rolls. The quaternary structure of the hemoglobin macromolecules consists of four globin polypeptide chains. Α Globin prototype Gene recombination Nucleotides database Protein database Introduction Further investigations are in need to prove/disprove the role of the gene recombination between species through blood in the transfer of the α globin mutants or even other ones. Additionally avoiding blood contact with animals have compatible mutants is recommended. However, avoiding marriage from relatives, and from the same ethnic groups might be the best choice. The unexpected exo-sources for the α globin put another load on the possibility of the haemoglobin illness solving. The protein modelling in the selected different fragments show differences in the 3D structure and in their hydrophobicity. That might be a proof for the existence of reduced α + globin (also in case of β + globin) macromolecules. The restriction map for the 81 nucleotides for four nucleotide sequences (one prototype mutant, two correct mutants, and one normal) proved change in the restriction enzymes profile of the α globin sequences. Species responsible for human bit or blood transfer are located and suggest gene recombination between different species occure through blood transfer. Interestingly the protein sequences show similarity with marsupials, even-toed ungulates, odd-toad ungulates, placental, bats, rodents, carnivores, whales and dolphins primates, insectivores, rabbits and hares. Searching the Blast protein database for the existence of correct mutants using the V00493.7 Homo sapiens 27 amino acids fragment was led to find 50 different sequences. The used fragment consists of nine nucleotides GGC AAG GTT and contain two silent mutants with the following amino acids sequences GKV. A selected α globin fragment contains the prototype mutant was used for searching both of the nucleotide and protein databases. The prototype mutants were screened in the α globin DNA sequences. The investigation concerns the Homo sapiens α globin. In this study a further and similar investigation was performed. Recently the existence of prototype mutants in β globin genes was proved.
0 Comments
Leave a Reply. |