What is your diagnosis of the unknown samples patient sample

What is your diagnosis of the unknown samples (patient samples)? What is your suggestion to these patients as a genetic counselor? What is isoelectric point of a protein (PI)? If pH is higher than PI, what happens to the protein (more positive or more negative)? If the pH is lower than PI, what happens to the protein (more positive or more negative)? What is the common mutation in Sickle Cell Anemia? What are the consequences of this mutation biologically?

Solution

1.What is your diagnosis of the unknown samples (patient samples)?

The unknown sample (blood sample) can examined. There you can find the structural variation in red blood cells. That can be linked with sickle cell anemia. In case of sickle cell the red blood cells will be in rod shaped structure. Different samples can be examined to determine the other disease symptoms. These samples can be used to determine the inherited disorder.

2.What is your suggestion to these patients as a genetic counselor?

As we know that role of genetic counselor advice the patients regarding genetic disorders. Genetic counselor informs the person regarding the trait transfer from generation to generation and probability of reoccurrence of trait. As a genetic counselor I will suggest them these patients to go through medical checkup and before marriage. So that sickle cell disease effect will be reduce. The gene responsible for this disease will transfer from parents to their offspring. This gene causes mutation in the hemoglobin-Beta gene present on chromosome 11.

3.What is Isoelectric point of a protein(PI)?

Isoelectrical point of protein is that at which a net electrical charge on protein shows zero.

In case of pH gradient, protein will stop to migrate where protein will reach at point of PI

If the pH is lower than PI, then proteins carry positive charge.

If the pH is higher than PI, then proteins carry negative charge.

Thus protein can be separated by net charge in a polyacrylamide gel using gel electrophoresis, which uses a constant pH. Isoelectric focusing which uses a pH gradient to separate proteins.

4.What is the common mutation in sickle cell anemia? What are the consequences of mutation biologically?

Sickle cell anemia is genetic disorder with lethal symptoms, including pain and anemia. This disease is caused by mutation in gene that helps in synthesis of hemoglobin. People having two copies of sickle cell anemia causing gene shows the effect on red blood cell. Red blood cell becomes rod shaped and change the hemoglobin structure in chain shape. People having only one copy of this gene can transfer into their offspring.

In normal G A G expressed to form GLU (Glutamic acid). But in case of mutation the sequence changes as GTG, which form the VAL (Valine) after translation.