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Understanding Genetics: PKU, Inheritance Patterns, and Marfan Syndrome Variability

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gyda
5 diapositives · 204 Views · Jul 30, 2014

This text explores various genetic conditions and inheritance patterns related to PKU, baldness, and Marfan syndrome. It discusses David's symptoms, including light skin and hair, musty odors, and seizures, stemming from a defective enzyme. The inheritance of red hair and baldness traits is examined through Jim's genetics. The example of butterflies highlights environmental influences on pigmentation, while an autosomal dominant inheritance pedigree showcases transmission patterns, incomplete penetrance, and the concept of variable expressivity in Marfan syndrome.

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Understanding Genetics: PKU, Inheritance Patterns, and Marfan Syndrome Variability
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  1. David has very light skin and hair. Sometimes he has a distinct “musty” odor to his sweat and urine. He is prone to seizures. Doctors were unsure for a long time what caused his conditions until they realized he had a disease caused PKU. This diseased phenotype can include all of these symptoms due to one defective enzyme.

  2. Jim inherited recessive alleles for red hair color. He also inherited a gene that causes complete baldness.

  3. Certain butterflies have different pigmentation based on the environment in where they are hatched. It appears to be a trait passed down from parent insects but it is actually driven by the temperature.

  4. In the above pedigree, there is ample evidence for autosomal dominant inheritance: • The disease is passed from the father (II-3) to the son (III-5), this never happens with X-linked traits. • The disease occurs in three consecutive generations, this never happens with recessive traits. • Males and females are affected, with roughly the same probability. • However, II-1 does not express the disease. He must have inherited the mutant allele because he passed it on to two children, III-1 and III-3. II-1 is a classical example of incomplete penetrance, he has the allele for the disease but he does not express it.

  5. Marfan syndrome: • May appear pleiotropic • Can also be an example of variable expressivity • Some people have all of the characteristic symptoms while others may just have one or two.