* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Topic: Genetic Mutations
Primary transcript wikipedia , lookup
X-inactivation wikipedia , lookup
Deoxyribozyme wikipedia , lookup
DNA damage theory of aging wikipedia , lookup
Cre-Lox recombination wikipedia , lookup
Saethre–Chotzen syndrome wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Genetic engineering wikipedia , lookup
Nucleic acid analogue wikipedia , lookup
Nutriepigenomics wikipedia , lookup
Non-coding DNA wikipedia , lookup
Cancer epigenetics wikipedia , lookup
Genome evolution wikipedia , lookup
Population genetics wikipedia , lookup
Gene therapy of the human retina wikipedia , lookup
Polycomb Group Proteins and Cancer wikipedia , lookup
Neuronal ceroid lipofuscinosis wikipedia , lookup
Cell-free fetal DNA wikipedia , lookup
Epigenetics of neurodegenerative diseases wikipedia , lookup
Genetic code wikipedia , lookup
Designer baby wikipedia , lookup
History of genetic engineering wikipedia , lookup
Microsatellite wikipedia , lookup
Genome editing wikipedia , lookup
Helitron (biology) wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Genome (book) wikipedia , lookup
Oncogenomics wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Microevolution wikipedia , lookup
Topic: Genetic Changes Aim: How can genetic information be altered? Thought Questions • How is reading the DNA like a recipe? • What happens when recipes go wrong? • How does a wrong recipe relate to having the wrong “DNA” recipe? What is a mutation? • A genetic change/alteration that occurs on or within DNA. • Results in a different transcription and translation message ultimately a different protein – Consequences: the protein may be the wrong protein that the cell needs • Passed on through sex cells ONLY, not somatic cells • Mutations can be harmful when expressed, but can be hidden Agents that Cause Mutations: • Environment – Mutagens: factors in the environment that can cause a mutation – Long term radiation exposure ( UV from the sun, radioactivity) cancer related – Chemical exposure ( formaldehyde, benzene, cigarette smoke) – pH, physical manipulation, temp Example: Temp. influenced : Himalyan Rabbit expresses genes in the winter( low temps) to make black fur for warmth. *** Environment can influence genetic expression Temperature Influences Trait Rabbit expresses genes for a dark coat on particular parts of its body. When an ice pack is placed on its back, it too turns black WHY DID THIS HAPPEN? Types of Mutations A- Chromosomal Mutations: changes that occur on sections of the chromosome or the complete chromosome structure. Ex: Inversion and Translocation B- Gene (Point) Mutations: changes that occur on individual base(s) of the nucleotides Ex: Substitution, Addition, Deletion, Point Inversions Types of Chromosomal Mutations- Inversion • Segment of the chromosome breaks off and reinserted in the same place but in the reverse direction relative to the rest of the chromosome Types of Chromosomal Mutations- Translocation Information from one of two homologous chromosomes breaks and binds to the other. Known as “jumping genes” Gene Mutations- Substitution Substitution (point) mutation = when one base is replaced with another Results in transcription and translation of a different amino acid than expected. Sickle Cell Anemia disease where substitution occurs on one base Sickle Cell Anemia • Disease where an individuals red blood cells are sickle in shape due to a substitution mutation that occurs in the DNA sequence of their red blood cell. Valine is substituted for glutamic acid Results of sickle cell anemia Gene Mutation- Addition • Addition (point) mutation = when bases are added to the DNA sequence • Results in the frame shift (bases move down) from the nucleotide sequences. Different (sometimes wrong or unwanted) amino acids are created into proteins Gene Mutations- Deletion • Deletion= nucleotides are deleted, which affects the coding of proteins that use this DNA sequence Results of Addition & Deletion Mutations Addition and Deletion mutations cause the DNA sequence to be read incorrectly Frameshift Mutation RESULTS OF ALL TYPES OF MUTATIONS • Overexpression of protein instruction • No expression of protein instruction • Expression of wrong protein instruction Human Diseases Caused By Mutations 1) Sickle Cell Anemia - substitution mutation 2) Huntington’s Disease - addition mutation 3) Tay-Sachs Disease - deletion mutation 4) PKU- phenylketonuriachromosomal mutation PKU-phenylketonuria • Missing enzyme that helps to breakdown phenylalanine. Genes are not expresses to make the enzyme phenylalanine hydroxylase Recipe for a Ham & Cheese Sandwich (Normal) 1) Take 2 pieces of ham and place it on one slice of bread. 2) Add one slice of cheese on top of the ham. 3) Place one piece of lettuce on top of the cheese. 4) Place mayo on the second piece of bread. 5) Close the sandwich with the mayo on the inside. Enjoy! Name the mutation 1) Takke 2 pieces of hham and place it on one slice of bread. 2) Add one sliccce of cheese on top of the ham. 3) Ppplace one piece of leettuce on top of the cheese. 4) Place mayyyo on the seccond pieeece of bread. 5) Clossse the sandwich with the mayo on the inside. Enjoyyyyyyy! Name the mutation 1) Place mayo on the. 2) Take 2 pieces of ham and on top of the ham. place it on one slice of bread. 3) Add one slice of cheese 4) Place one piece of lettuce on top of the cheese. 5) second piece of bread Close the sandwich with the mayo on the inside. Enjoy! Name the mutation 1) Take 2 pieces of ham and place it on one slice of bread. 2) Place mayo on the second piece of bread. 3) Close the sandwich with the mayo on the inside. Enjoy!