Autosomal Dominant Traits

Marfan Syndrome
1. Arm span always exceeds height
2. Arachnodactyly
3. Tall, thin phenotype
4. Loose-jointedness
5. Abnormal curvature of the spine
6. Enlarged aorta (aneurysm)
7. The gene associated with Marfan Syndrome encodes the protein fibrillin
  1. Fibrillin creates a sheath around the elastin fibbers found in connective tissue
  2. The gene that encodes fibrillin is found on chromosome 15
8. If a person has one copy of the defective allele, the Marfan Syndrome phenotype will be seen
9. Autosomal dominant disorder
Tennessee Fainting Goats
1. These goats become stiff and fall over when startled
2. Often called wooden-leg goats or stiff-leg goats
3. These goats have an autosomal dominant condition called Myotonia
  1. The Myotonia gene encodes a chloride channel protein found in muscle cells
Cloverleaf Tongue
1. Rare dominant trait
2. An individual with this trait is most likely heterozygous

Zusammenfassung der Ressource

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