MBG 1000 Lecture 1: Disease Names for genetics

• School: University of Guelph
• Department: Molecular Biology and Genetics
• Course: MBG 1000
• Professor: Lana Trick

Document Summary

Inability to break down protein and go through protein synthesis. Must have 2 copies of the gene to have pku. No tyronase in tyrosine metabolism, which causes the lack of pigment. Anemia: the decreased capacity to bring oxygen to the tissues. Distributed by mosquitos by the sucking of blood and insertion of infection from salivary glands of mosquito. Disease that has skeletal impact, cardiovascular impact, and ocular impact. Defective fibrillin protein, which decreases micro fibrils, which activates growth and results in overgrowth. Autosomal recessive trait that must come from both parents. Only needs one copy of the gene to have phenotypic symptoms. Oca ia: total absence of melanin, milky skin, lack of pigment in eyes. Oca ib: low levels of pigment some tyronase activity. Chronic fatigue, shortness of breath, paleness, pain, infections, enlarged spleen, sores that don"t heal ect. Loose joints, long fingers and toes, tall, skeletal phenotype, enlarged aorta, retinal detachment, and loss of lens.