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TOPICS & REFERENCES
• Steps of Translation – Initiation; Elongation; Termination.
• Polyribosomes.
• Inborn errors of Metabolism:
1. Phenylketonuria
2. Alkaptonuria
3. Albinism
4. Tyrosinemia.
• Studies of human hemoglobin - Sickle-Cell Anemia.
• Posttranslational Modification.
• Examples of the classes of proteins associated with diseases
with a strong genetic component (most are monogenic), and the
part of the cell in which those proteins normally function.
Steps of Translation – Initiation; Elongation; Termination.
Polyribosomes.
As elongation proceeds and the
initial portion of an mRNA
molecule has passed through
the ribosome, this portion of
mRNA is free to associate with
another small subunit to form a
second initiation complex. The
process can be repeated
several times with a single
mRNA and results in what are
called polyribosomes, or just
polysomes.
Phenylketonuria
Alkaptonuria
Albinism Tyrosinemia
Normal melanocyte number
with low melanin production -
due to low tyrosinase activity or
defective tyrosine transport.
High risk of skin cancer.
Tyrosinemia is caused by the lack of an
enzyme in the degradation pathway of the
amino acid tyrosine. Accumulation of
metabolic intermediates causes progres-
sive liver dysfunction and kidney problems
Studies of human hemoglobin - Sickle-Cell Anemia.
Posttranslational Modification

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MB & Genetics 7.pptx .

  • 1. TOPICS & REFERENCES • Steps of Translation – Initiation; Elongation; Termination. • Polyribosomes. • Inborn errors of Metabolism: 1. Phenylketonuria 2. Alkaptonuria 3. Albinism 4. Tyrosinemia. • Studies of human hemoglobin - Sickle-Cell Anemia. • Posttranslational Modification. • Examples of the classes of proteins associated with diseases with a strong genetic component (most are monogenic), and the part of the cell in which those proteins normally function.
  • 2. Steps of Translation – Initiation; Elongation; Termination.
  • 3. Polyribosomes. As elongation proceeds and the initial portion of an mRNA molecule has passed through the ribosome, this portion of mRNA is free to associate with another small subunit to form a second initiation complex. The process can be repeated several times with a single mRNA and results in what are called polyribosomes, or just polysomes.
  • 6. Albinism Tyrosinemia Normal melanocyte number with low melanin production - due to low tyrosinase activity or defective tyrosine transport. High risk of skin cancer. Tyrosinemia is caused by the lack of an enzyme in the degradation pathway of the amino acid tyrosine. Accumulation of metabolic intermediates causes progres- sive liver dysfunction and kidney problems
  • 7. Studies of human hemoglobin - Sickle-Cell Anemia.