1. The Human Genome
Chapter 14

2. Human Chromosomes Humans have 46 chromosomes
23 from mom, 23 from dad - form homologous pairs
44 Autosomes
2 sex chromosomes
46,XX or 46,XY

3. Karyotype A picture of chromosomes is taken when cells are in mitosis
Chromosomes arranged and studied/analyzed for chromosomal abnormalities

4. Karyotypes

5. What if something goes wrong?

6. What is nondisjunction? Random event, not inherited trait

7. Translocation – pieces of chromosomes moved to other chromosomes
Trisomy – one extra chromosome: Down syndrome (Trisomy 21), Kleinfelter’s syndrome 47, XXY
Monosomy – missing one chromosome Turner’s syndrome(45, X)

8. Pedigrees

9. Genes and the Environment
Polygenic traits – many human traits are controlled by more than one gene
Nutrition
Exercise
How does the environment affect your phenotype “Nature vs. Nurture”

10. Human Genes
There are nearly 30,000 human protein-coding genes in the human genome
Identification of genes that control blood type one of the first human genes to be identified
Codominant, multiple alleles

11. Blood Typing

12. Genetic Disorders (pg. 345)-inherited

13. Sex-Linked Disorders Colorblindness Hemophilia
Duchenne Muscular Dystrophy

14. Sex-Linked Genes
More than 100 genetic disorders mapped to the X chromosome
Y is much smaller with only a few genes

15. Males have only one X chromosome
All X-linked alleles are expressed in males, even if they are recessive
XX XY

16. 14-3 Human Molecular Genetics
About 6 billion base pairs in your DNA
Genetic testing allows biologists/scientists to search the DNA

17. DNA Fingerprinting
Analyzes sections of DNA with little or no known function
These sections are very different from one individual to another

18. The Human Genome Project
Began in 1990, completed April 2003
Find out about The Human Genome Project

19. Gene Therapy
The process of changing the gene that causes a genetic disorder.
An absent or faulty gene is replaced by a normal, working gene
Cure blindness?
Cystic fibrosis
Hemophilia

20. Ethical Issues
What do you think?