ot re- Lt of the purple phenotype is ed F2 ratio) might sug- incomplete? 47. Sph
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ot re- Lt of the purple phenotype is ed F2 ratio) might sug- incomplete? 47. Spherocy tosis is an inherited blood disease in which the erythrocytes (red blood cells) of biconcave. This conditio dominant fashion, with ANKI (the nont tant allele) dominant to ANKI* rocytosis, the splee blood cells as defective an bloodstream, leading to anemia. The spleen in ent people removes the spherical erythrocytes with different efficiencies. Some people with spherical are spherical instead Pamilty 2 can be inherited in a nonfunctional mu- In people with sphe- recognizes the spherical red d removes them from the differ Family 3 rvthrocytes suffer severe anemia and some mild ane- ery others have spleens that function so poorly no mptoms of anemia exist at all. When 2400 people sym with the genotype ANKI ANKI were examined, it was found that all of them had spherical erythrocytes ?250 had anemia of varying severity, and 150 had no Family 4 symptoms. (Assume that ANKI ANKI homozygotes do not exist.) a. Does this description of people with spherocytosis represent incomplete penetrance, variable expres- . You have sivity, or both? Explain your answer. Can you de- rive any values from the numerical data to measure penetrance or expressivity? patients phenoty Accor in 1 in wo est a treatment for spherocytosis and describe how the incomplete penetrance and/or variable expressivity of the condition might affect this treatment. b. Sugg you a.Explanation / Answer
a) It is an example of incomplete penetrance , this is because out of the population under study ( with genotype ANK1 ANK1+) , 150 doesnt show the traits ,spherocytosis , even though they have the same gene as there are in the people with traits .
Variable sensitivity is according to the different degree of traits expressed in different ,but the trait is present in all of them .
We can calculate the penetrance of the trait In the population .
Here , 2250 people out of 2400 shows the trait , that means penetrance is 93.75%.
b) surgery - Removal of the spleen in mild diseases is preferred .
But due to variable sensitivity , different people will have different severity of the disease which may require complex treatment like - blood transfusions ,phototherapy ,vaccination etc.
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