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Describe Charly's phenotype, Portia's genotype, Bill's genotype and explain why Patrick is normal but a carrier of Tay-Sachs disease.
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Answer
affected (has Tay-Sachs disease)
Tt
Step-by-step solution
4 steps(a) Charly’s phenotype
Tay-Sachs disease is an autosomal recessive disorder. Affected individuals have genotype , while or are normal.
In the pedigree, Charly's symbol is shaded, indicating affected status.
Charly’s phenotype: affected (has Tay-Sachs disease).
affected (has Tay-Sachs disease)(b) Portia’s genotype
Portia’s symbol is unshaded: normal phenotype ( or ).
Portia and Patrick (normal) have children Elizabeth and Sam, both shaded (affected, genotype ).
To produce offspring, each parent must contribute one allele.
Thus, Portia’s genotype must be .
Tt(c) Bill’s genotype
Bill’s symbol is unshaded: normal phenotype ( or ).
Bill and Pam (normal) have child Charly (affected, ), plus normal children Helen and Portia.
To produce a child, both parents must contribute , so both are .
Bill’s genotype: .
Tt2.5.2 Explain why Patrick is normal, but a carrier of Tay-Sachs.
Patrick’s symbol is unshaded: normal phenotype (genotype or ).
Patrick and Portia () produced affected children (Elizabeth and Sam, both ).
Each child requires one from Patrick.
If Patrick were , all children would be (normal), which is impossible.
Thus, Patrick must be : normal phenotype, but carrier.
Patrick is a carrier () because he transmits the recessive allele to his affected children.
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