Inheritance Pattern: autosomal recessive → both copies must be inherited to get PFK deficiency
Genotypes: AA (normal PFK), Aa (normal PFK, carrier), aa (affected PFK)
• Hank: unaffected
• Hailey (Aa): has affected mother, unaffected father; no affected siblings
: Hank and Hailey's offsprings (4 total): 2 unaffected (A_), 2 affected (aa)
• Hazel (AA): 4 unaffected offsprings with Hank
Purebred dogs are susceptible to many genetic disorders. Cocker spaniels, in particular, are prone to a disorder called canine phosphofructokinase (PFK) deficiency, an autosomal recessive condition in which glucose is unable to be metabolized into available energy. Because the PFK enzyme is important for energy metabolism in red blood cells and skeletal muscle during exercise, a deficiency in the enzyme results in exercise intolerance and muscle disease. Use the pedigree below, which shows the inheritance of PFK deficiency in cocker spaniels, to answer the questions.
A. If A represents the allele for wild type PFK, what is Hank's genotype?
B. What is the probability that Hank and Hazel's male offspring will be a carrier of PFK deficiency? Hazel's breeder has confirmed that she is not a carrier of PFK deficiency.
C. What is the probability that Howey and Hailey's unaffected female offspring will be carriers of PFK deficiency?
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