Question

In: Biology

why is it best to report the results of our H phenotyping as a most probable...

why is it best to report the results of our H phenotyping as a most probable phenotype?

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Expert Solution

Phenotype is from the Greek phainen (to show) and tupos (type) and refers to the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment; thus phenotypes reflect the nature and the nurture of the organism.While genome projects continue to provide crucial information about the structure of genomes and their genes, functional genomics (or functional genetics) initiatives strive to understand the function of genomes and their genes. Identification of a protein gene product and determination of its function as a receptor, ligand, or enzyme is a proximal goal. Understanding the role of the gene and its product in the context of a living organism is the ultimate goal. Thus, functional genomics efforts in genetically engineered animals aim to produce and characterize phenotypes that clearly result from the intended genetic manipulations and help to elucidate gene functions. However, phenotypes reflect genetic influences other than the intended genetic manipulations, as well as experiential and environmental influences including infectious agents. Potential impacts of extra-experimental variables must be considered when interpreting phenotype data.

The biosynthesis of the H antigen and the A and B antigens involves a series of enzymes (glycosyltransferases) that transfer monosaccharides. The resulting antigens are oligosaccharide chains, which are attached to lipids and proteins that are anchored in the RBC membrane.

Clinical significance of H antibodies

(a)Transfusion reactions

If patients with anti-H in their circulation receive transfusions of blood that contains the H antigen (e.g., blood group O), they are at risk of suffering an acute hemolytic transfusion reaction.

(b) Hemolytic disease of the newborn

In theory, the maternal production of anti-H during pregnancy could cause hemolytic disease in a fetus who did not inherit the mother's Bombay phenotype. In practice, cases of HDN caused in this way have not been described, possibly because of the rarity of the Bombay phenotype.

Hence,in all aspects the results of H Phenotype is considered to be more probable.


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