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Substitution A mutation that changes one base Possible outcomes: – New codon codes for the same amino acid – silent – New codon changes the amino acid – missense Sickle cell anemia – New codon codes for a stop codon – non sense
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MutationA change in the nucleotide sequence
of the genome of an organism
SubstitutionA mutation that changes one base
• Possible outcomes:– New codon codes for the same amino acid
– silent– New codon changes the amino acid – missense
• Sickle cell anemia– New codon codes for a stop codon – non sense
Frameshift Mutations
• A change in the reading pattern of the DNA
• Causes:– Deletions• Sections of DNA are missing• Example: Williams Syndrome
– Insertions• Mutations in which an extra base is inserted
Involves changes in the number or structure of chromosomes
•Deletion- loss of all or part–Cystic Fibrous
•Duplication – segment is repeated–Huntington’s disease
• Inversion – orientation is in the reverse direction• Translocation – two non homologous chromosomes exchange segments
Genetic EngineeringManipulating an organism’s genome
using biotechnology
Genetically Modified Organisms (GMO)
Organisms who have been genetically altered using biotechnology
These are also referred to as transgenic organisms
Transgenic Organisms• Microorganisms– Insulin production– Clotting Factors
• Plants (GMOs)– Insect resistant–Weather Resistant
• Mammals–Medicine– Commerical
CloningMaking an exact genetic copy of an organism
Why clone?1.Medical purposes• Animal models• Stem cells• Drug production
2.Reviving extinct or endangered organisms3.Pet trade
Stem CellsCells that can divide and differentiate
into diverse specialized cellsWhy study stem cells?1.They are unspecialized & can reproduce (mitosis)2. They can be induced to become specific cells with specific functions.Two types:•Embryonic •Adult
DNA FingerprintingA method of isolating and making images of a person’s unique DNA
sequenceProcess: Gel Electrophoresis
with help from restriction enzymes
DNA Fingerprints
