Jan 12, 2018 in Research

The Molecular Genetics

More than 300 specificity of blood group on the red cells are already identified of which the majority is polymorphic. Different molecular mechanisms are responsible for the identified polymorphisms. Nevertheless, a majority embody single nucleotide polymorphisms (SNPs). The additional molecular mechanism is deletion of genes, which consist of duplication of the sequence and deletion of single nucleotide that initiate shifts in reading-frame.  Nonsense mutation and inter-genic recombination between genes closely related give rise to hybrid proteins and genes. Further, there is s SNP in the blood group gene’s promoter area. The critical analysis of blood group’s molecular genetics is presented.

The blood group systems, such as ABO, Duffy and Rh are illustrations from which the diverse genetic mechanisms are taken from. Blood groups systems without antigens expressed are categorized as null phenotypes, which are not commonly polymorphic. Nonetheless, the null phenotypes are excellent illustrations of the consequences of inactivating mutations on expressions of blood groups. Null phenotypes are essential signs to the antigens blood group roles because they act as natural ‘knock-outs’.

Understanding and awareness of blood group polymorphisms’ molecular foundations are an important method in predicting the phenotypes of blood groups from genomic DNA. The concept is useful in transfusion medicine because it helps in determining the blood groups of the fetus. This would help in evaluating if the fetus is exposed to risk from blood diseases. In addition, the concept is applied in ascertaining the phenotypes of blood groups in multiply transfused and transfusion-dependent clients in which blood examinations are unacceptable by donor red cells’ presence. Additional uses and application of the concept are under development presently.

Molecular testing is widely used because of its precision as opposed to other mechanisms in blood group antigen genotyping. The molecular genetics of blood group system polymorphism helped in characterizing and identifying the phenotypes that express themselves in human blood system. The polymorphisms categorized as phenotypic are examined with the assistance of various methods of red blood cell agglutination. Consequently, the blood group polymorphic systems are significant in medical transfusions and solid transplantation of organs. The concept is important in areas, such as teaching and understanding of genetics, immunology along with biochemistry.

The antigens in blood groups are controlled by certain genes cloned and sequenced to identify the molecular foundation of their polymorphism. The process has helped significantly in blood group’s phenotypes as well as genotype classification in patients under medical blood transfusion. The significance of polymorphism of blood group is also exemplified in determining the Rh factor of foetus from the blood plasma of the mother. It has also necessitated the exploration and study of patterns of inheritance unexplainable through other mechanisms.  

The phenotype range found in humans is a consequence of variations in genetic that work in collaboration with the behavioral and environmental factors to give rise to diversity. The genes in control of the antigen expressions found in blood group system consist of different types of polymorphism. The importance of the blood group system can be underscored through examining the polymorphisms of gene that control the expression of the blood group antigens. Polymorphism of blood group helps in identification of allelic variations and estimation of the process involved in various population formations.

In conclusion, the molecular foundation of polymorphisms of blood group systems is appropriately understood in medical field. The challenge is still in understanding the environmental factors, which lead to polymorphisms expression. The instances in certain blood groups in which polymorphisms are not expressed are an indication that preservation of sequence is essential despite not being indispensible.

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