INHERITANCE

INHERITANCE
R: Chapter 5
Pedigrees (FA13 p84) (FA14 p86) (SU14 p301)
Anticipation (FA13 p82) (FA14 p84) (SU14 p302)
Genetic terminology (FA13 p82) (FA14 p84) (SU14 p301-302)
Prader-Willi syndrome (FA13 p83) (FA14 p85) (SU14 p302)
Angelman syndrome (FA13 p83) (FA14 p85) (SU14 p302)
Hardy-Weinberg population genetics (FA13 p83) (FA14 p85) (SU14 p302-303)

3 Question Warm-Up

1. What problem/abnormality is associated with each of the following

buzzwords? (FA13 p266-267, 446) (FA14 p282-285, 445, 487)

Boot-shaped heart
Continuous machine-like murmur
Tendon xanthomas
Caf-au-lait spots
Tuft of hair on lower back

2. What is the classic triad of tuberous sclerosis? (FA13 p85) (FA14 p87)

3. What cell type proliferates during lung damage? (FA13 p544) (FA14 p594)

4. Mitochondrial Inheritance Defects

Mitochondrial myopathies (ragged-red muscle fibers seen on biopsy)

Leber hereditary optic neuropathy
Leigh syndrome (subacute sclerosing encephalopathy)
5. What is the likelihood that child X will have the genetic mutation?

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6. The numbers in this diagram indicate the age of disease presentation. What is
the name of this phenomenon?

BIOCHEM

7. If the shaded boxes indicate a phenotypic expression of a genetic mutation,

what is the name given to this phenomenon?

8. Prader-Willi Syndrome

Deletion of proximal portion of chromosome 15q11-q13 from paternal origin

Presents in infancy: hypotonia, poor feeding, characteristic facial features (almond-shaped

eyes, downward turned mouth)

Sx: hyperphagia, obesity, short stature (partial GH deficiency), intellectual disability,
behavior disorders (tantrums, skin-picking, OCD), hypogonadotrophic hypogonadism
genital hypoplasia, osteoporosis, delayed menarche
Dx: confirmed with FISH (fluorescence in-situ hybridization)
Rx: limit access to food, GH if short stature

9. What is the frequency of the BB phenotype and the Bb phenotype if the

frequency of allele B is 70%?

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End of Session Quiz

10. What is the frequency of the Aa genotype and the AA genotype if the
frequency of allele A is 0.95?

11. If 49% of a particular population is homozygous for a curly hair gene that is
dominant to a straight hair gene, what percentage of the population has curly
hair?

12. A male infant is born to a woman that is heterozygous for an X-linked disease.
The father is normal. What is the probability that the son will be affected?

13. A female infant is born to a woman that is heterozygous for an X-linked disease.
The father is normal. What is the probability that the daughter is a carrier?

14. What is the probability that a female carrier of an X-linked disease will have a
child with that disease assuming she mates with a normal male?

15. If aa symbolizes a recessive disease, what is the likelihood that parents Aa and
Aa will have a phenotypically normal child?

16. Cystic fibrosis is an autosomal recessive disorder. Two parents that are
heterozygous for cystic fibrosis have a normal, non-affected child. What is the
probability that the child is homozygous normal?

17. Upon examination of a pedigree, you note that both males and females are
affected with a disease in every generation. What type of genetic disease is this?
(FA13 p84) (FA14 p86)

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