BIL 250 Lecture Notes - Lecture 3: Trinucleotide Repeat Disorder, Hbb, Marfan Syndrome
18 Apr 2017
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Document Summary
Single gene mutations cause a wide range of human diseases. Most human genetic diseases are polygenic, caused by variations in several genes. A single base-pair change in one of the approximately 20,000 human genes can lead to serious inherited disorders (monogenic diseases) Autosomal dominant disorder caused by change in the dna for fibroblast growth factor receptor, which causes an abnormality of cartilage formation. Present pleiotropic features in 3 systems: skeletal, ocular, and cardiovascular. Unusually tall, with long limbs and long, thin fingers. Beta thalassemia is caused by mutations in the beta globin gene and cause mild to severe anemia. Genetic disease arises from large number of mutations. Over 250 mutations in the beta globin gene. Molecular analysis has shown that some mutant genes contain, trinucleotide repeat sequences specific short dna sequences repeated many times. Normal individuals may have fewer repeats, but some have over 200 repeats within and surrounding specific genes.
