Bios 105 Human Genetics
Exam 1 |
Exam 2 |
Exam 3 |
Cystic Fibrosis |
Wolf-Hirschhorn syndrome Phenylketonuria |
Disease Genes discovered by POSITIONAL CLONING:
Emphysema (heritable form) |
How should you study these genetic diseases for your
presentations and the exams? Consult your text, lecture notes, and the listings in OMIM, then provide information for the
following categories:
1. Brief summary of the disease's main symptoms, and the body structures/functions
affected; prognosis and frequency of occurrence (in other words, describe and
analyze the disease's phenotype and frequency of occurrence in populations or
sub-populations):
2. Inheritance mode(s) and typical genotype of an affected individual; it would be useful to show a pedigree of an actual case study:
3. Physiological, biochemical and molecular structures and functions affected; the size of the gene in base pairs, its protein product and size in amino acids, type of mutation (chromosomal or DNA) responsible for the observed phenotype(s):
4. Chromosomal location (use previously described notation: p. 33 of your text, and handouts); has the gene been cloned yet?
OMIM