1. Chapter 14: Human Heredity
Lab Biology CP

2. Chapter 14: Human Heredity
14.1 Human Chromosomes
14.2 Human Genetic Disorders
14.3 Studying the Human Genome

3. 14.1 Human Chromosomes

4. What is a genome?
A full set of genetic information that an organism carries in its DNA

5. Types of Human Chromosomes
Sex chromosomes: pair 23
Autosomes: pairs 1-22
Male: XY
Female: XX

6. Karotypes
Shows the complete diploid set of chromosomes grouped together in pairs, arranged in order of decreasing size

8. Normal Male

9. Transmission of Human Traits
1. Dominant & Recessive Alleles
MC1R gene: helps determine skin and hair color
2. Codominant Alleles and Multiple Alleles
Example: blood type
3. Sex-Linked Inheritance
Example: color blindness

10. Pedigree

11. 14.2 Human Genetic Disorders

12. From Molecule to Phenotype
A small change in DNA sequence can change proteins by altering their amino acid sequences, which may directly affect one’s phenotype.

13. Disorders Caused by Individual Genes
Sickle Cell Disease
Cystic Fibrosis
Huntington’s Disease

14. Cystic Fibrosis

15. Chromosomal Disorders
Caused by an extra or missing chromosomes
Example: Trisomy 21 (Down’s Syndrome)
Extra 21st chromosome

16. Trisomy 21 Karyotype

17. 14.3 Studying the Human Genome

18. Techniques used to study DNA
Cutting DNA with restriction enzymes
Separating DNA fragments by gel electrophoresis
Reading DNA with dye-labeled nucleotides

19. Cutting DNA

20. Reading DNA

21. Separating DNA

22. The Human Genome Project
Human Genome mapped by the U.S. and other countries
February 2001 completed
Took 13 years to complete
Sequenced all 3 billion base pairs