Genome Overview
1. A genome is a parts list and instruction manual for life that is made of all the deoxyribose nucleic acid (DNA) in an organism.
2. Adult diabetes
3. 99.9% identical between individual humans, 85% identical between humans and mice
Chromosome Close-up
1. Exons carry the DNA code for proteins, while the introns are noncoding.
2. Hemogloblin (note that beta globin, delta globin, beta globin pseudogene, gamma globin, and epsilon globin make up hemoglobin)
Packaging DNA
1. a) DNA wraps around histones (protein molecules) = nucleosome, b) nucleosomes packaged in a thread = chromatin, c) coiled chromatin (“solenoid”) can loop/coil into chromosomes
2. Chromosomes are present in the nucleus only during cell division.
Additional Resources
DNA replication during mitosis
DNA replication during meiosis
Chromosome Arrangement
1. “Bowl of Spaghetti” model
2. “Chromosome Territory” model because a laser damaged only a few chromosomes in each nucleus. The researchers could tell which chromosomes were damaged because the DNA repaired itself using special radioactively labeled nucleotides, which were distinct from the original nucleotides in the chromosomes.
Karyotyping
Additional Resources
Balanced translocation
Unbalanced translocation
Activity
The links with resources on the seven genetic disorders will provide the information to answer the questions.
a) Which chromosome(s) are modified in this disorder? Give a brief description of how the genome of individuals with this disorder is different from the genomes of people who do not have this disorder.
b) What are the phenotypes (observable traits) of this disorder?
Responses for each disorder can be found here.
Additional Resources
Overview of common genetic disorders
Karyotypes of the above disorders (scroll to the bottom of the page)