suzannehamid
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Describe how the base change in DNA results in a fault protein molecule being made, that prodcues the condition of sickle cell anemia?

Explain the inheritance pattern of the condition, giving examples using completed genetic diagrams?

( any help with these questions much appreciated) - guidelines to include diagrams of nucleic acis, protein synthesis and Mendelian inheritance in 1500 words...... )
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Js048326
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For the first one you could talk about how a base deletion (which leads to a frame shift) or substitution leads to a different amino acid being produced which changes the primary sequence of protein which changes the tertiary structure of protein which in turn changes the quaternary structure of the red blood cells so they are different shapes and can no longer carry out their functions properly (carrying O2)
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Jpw1097
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(Original post by suzannehamid)
Describe how the base change in DNA results in a fault protein molecule being made, that prodcues the condition of sickle cell anemia?

Explain the inheritance pattern of the condition, giving examples using completed genetic diagrams?

( any help with these questions much appreciated) - guidelines to include diagrams of nucleic acis, protein synthesis and Mendelian inheritance in 1500 words...... )
Sickle cell disease is caused by a point mutation causing the amino acid in the sixth position to change from glutamate (a hydrophilic amino acid) to valine (a hydrophobic amino acid). In the deoxygenated state, haemoglobin has a hydrophobic pocket which glutamate does not bind to, however, valine binds to the hydrophobic pocket as it is a hydrophobic amino acid, causing haemoglobin molecules to stick together forming long polymers. This causes the RBCs to become sickle shaped and less flexible, causing them to block capillaries and cause vaso-occlusive crises.

Sickle cell disease is an autosomal recessive disorder, although even having a single allele can produce mild symptoms (sickle cell trait).

That's as much as I'm going to give you. This and everything else can be found easily online.
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