GENES, MUTATIONS & DISEASES: UNDERSTANDING THE ORIGINS OF GENETIC DISORDERS

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Presentation transcript:

GENES, MUTATIONS & DISEASES: UNDERSTANDING THE ORIGINS OF GENETIC DISORDERS

PREVIOUSLY… Nucleotides, DNA, and Genes

PREVIOUSLY… Nucleotides, DNA, and Genes Water DNA Ladder Protein Strawberry DNA

LESSON #2

How is this information accessed? How does this information determine how the cell functions? Genes store the information that defines how A cell behaves A cell functions Genes encode the information on how to make a protein. Proteins are the “workforce” of a cell.

DNA  mRNA  protein transcription translation

TRANSCRIPTION is the synthesis of RNA using DNA as the template. ribonucleic acid (RNA) Similar to DNA, RNA is made of nucleotides. deoxyribonucleic acid (DNA)

bases in DNA: adenine (A), guanine (G), cytosine (C), and thymine (T) bases in RNA: adenine (A), guanine (G), cytosine (C), and uracil (U) base-pairing during transcription ATCG UAGC DNA RNA TG A nucleotide sugar phosphatebase

ACTIVITY #1 Transcription Take back your DNA molecule. Starting with the sequence T-G-A on your DNA molecule, transcribe your DNA.

Transcription is the first step of protein synthesis. The type of RNA that results from this step is messenger RNA (mRNA). After RNA is made, it leaves the nucleus. In the cytoplasm, ribosomes “read and translate” the message in mRNA to make the protein.

TRANSLATION is the synthesis of a protein using the information (message, code) in mRNA. PROTEINS (active cell machinery)

Amino acids corresponding to the codons are added to the growing protein chain.

The genetic code is a set of “rules” by which the information in mRNA is translated into proteins. A codon is made of three nucleotide bases (triplet) and it may translate into: an amino acid, a “start” signal (which is always the amino acid Met), or a “stop” signal (no amino acid)

ACTIVITY #2 Translation Translate your RNA molecule!

What would happen if this nucleotide (C) changes?

-Ala-Asp-Leu-Ala A mutation is a change in the nucleotide sequence of a gene. Mutations occur at the DNA level, and then carried over to the mRNA during transcription. substitution A Leu Ala  Glu mutation insertion A Leu changes the grouping of triplets deletion Leu changes the grouping of triplets

SICKLE-CELL ANEMIA IS A GENETIC DISEASE SICKLE-CELL NORMAL CELL MUTATION SICKLE-CELL ANEMIA ARISES FROM A MUTATION IN HEMOGLOBIN

Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body.

sickle normal normal cell showing the concave shape

ACTIVITY #3 Mutation and Sickle Cells

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