Chapter 14: Human Heredity

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Transcript Chapter 14: Human Heredity

Chapter 14: Human Heredity
Lab Biology CP
Chapter 14: Human Heredity
• 14.1 Human Chromosomes
• 14.2 Human Genetic Disorders
• 14.3 Studying the Human Genome
14.1 Human Chromosomes
What is a genome?
• A full set of genetic information that an
organism carries in its DNA
Types of
Human Chromosomes
• Sex chromosomes: pair 23
• Autosomes: pairs 1-22
• Male: XY
• Female: XX
Karotypes
• Shows the complete diploid set of
chromosomes grouped together in pairs,
arranged in order of decreasing size
Normal
Male
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
Pedigree
14.2 Human Genetic Disorders
http://www.youtube.com/profile?user=greatpacificmedia&annotation_id=annota
tion_75791&feature=iv#p/c/D255C11CF27A7682/11/efstlgoynlk
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.
http://www.youtube.com/watch?v=vNWwSL5
5gUM&feature=related
Disorders Caused by Individual Genes
• Sickle Cell Disease
• Cystic Fibrosis
• Huntington’s Disease
http://www.youtube.com/watch?v=zzhmr1qo
m3Q&feature=fvsr
Cystic Fibrosis
Chromosomal Disorders
• Caused by an extra or missing chromosomes
• Example: Trisomy 21 (Down’s Syndrome)
– Extra 21st chromosome
Trisomy 21 Karyotype
14.3 Studying the
Human Genome
Techniques used to study DNA
• Cutting DNA with restriction enzymes
• Separating DNA fragments by gel
electrophoresis
• Reading DNA with dye-labeled nucleotides
Cutting
DNA
Reading DNA
Separating
DNA
http://www.youtube.com/w
atch?v=o-wh_tLI70&feature=related
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
http://www.youtube.com/watch?v=XuUpnAz5y1g