Genetic characterization of sickle cell Essay Assignment Paper
Genetic characterization of sickle cell Essay Assignment Paper
Chemical changes in the DNA can alter proteins as the SC disease exemplifies. SCA is the pioneer genetic disease in molecular characterization (Bustamante and Martinez, 2002). The haemoglobin consists of four globin units; 2 alpha globins and 2 beta globins which work together for oxygen circulation. The beta globin alleles A and S are significant in sickle cell inheritance where the A allele dominant homozygous form is “HBAA” while the S allele is mutant and therefore represents the homozygous mutant form “HbSS”. An individual with the dominant homozygous trait carries a copy of the dominant allele AA and therefore has normal haemoglobin and normal-shaped red blood cell.Sickle Cell Anemia Essay Example On the other hand, an individual with recessive homozygous trait carries a copy of the recessive alleles SS and therefore develops sickle cell shaped red blood cells. Such individuals develop the life-long sickle cell disease and experience the full blown symptoms of sickle cell anaemia. In other circumstances, an individual inherits allele A from one parent and allele S from another parent and posses the heterozygous condition “HBAS”. In this situation, both the A and S alleles are codominant because both kinds of haemoglobin are made in these individuals. Such individuals lead normal healthy lives and are referred to as carriers of the sickle cell trait. However, they can slightly suffer from sickle cell symptoms in low oxygen conditions for, instance in elevated heights. The only way to prove the presence of the mutant allele is through a blood test referred to haemoglobin electrophoresis that determines the kind of haemoglobin one has. Bustamante and Martinez (2002) assert that the inheritance of the haemoglobin alleles follow the Mendelian laws of genetics. The applied Mendelian law shows that half the offsprings have a chance to be HBs carriers where only one parent is a carrier. Conclusively, if both parents are carriers the offsprings have a 25 percent chance for HBAA, 50 percent chance for HBAS and 25 percent chance for HBSS. The heterozygous condition increases the frequency of sickle cell allele because the allele can be passed to the filial generation when the individual bears offspring with another heterozygous or homozygous recessive individual. The AS heterozygote also has another major advantage and this is the ability to resist the protozoan parasite that causes anaemia. With the invasion of the malaria parasites in the bloodstream, red blood cells with the mutant haemoglobin die therefore traps the parasites within the red blood cells and reduce the chance of infection. The AA is at a higher chance of dying from malaria while the SS dies prematurely of sickle cell anaemia although they resist malaria. The AA and SS alleles are removed from the gene pool whereas the frequency of AS alleles increases (Lehmann, Maranjian and Mourant, 1963). In molecular characterization, electrophoresis can be used to identify haemoglobin S and analysis can be done by ADN genotype methods.
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