Genetic Diseases in Humans

Bios 105 Human Genetics
Instructor: Fornari

Exam 1

Exam 2

Exam 3

Cystic Fibrosis
Pompe's disease
Robert's syndrome
Werner syndrome

Marfan's syndrome
Huntington disease
color blindness
Muscular dystrophy

Wolf-Hirschhorn syndrome
CML (chronic myelogenous   leukemia)
Patau syndrome
Down syndrome
Turner syndrome
Klinefelter syndrome
Cri du chat syndrome

Lesch-Nyhan syndrome
Familial hypercholesteremia
Sicle-cell anemia

Disease Genes discovered by POSITIONAL CLONING:

Polycystic Kidney Disease
Cystic Fibrosis
Myotonic Dystrophy
Fragile-X syndrome

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?


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