Unit 1 Topic 2: Genes and Health
MY NOTES
Nucleic Acids
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Structure of RNA and DNA
Polynucleotide formation
Identify how complimentary base pairing and the hydrogen bonding between
two complimentary strands are involved in the formation of the DNA double
helix.
Identify how Meselson and Stahl’s classic experiment provided new data that
supported the accepted theory of replication of DNA and refuted competing
theories.
semi conservative theory of DNA replication (including the role of DNA
polymerase)
Transcription and Translation
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Identify the triplet code nature of the genetic code
Define the term gene
Outline the process the process of protein synthesis, including the role of
transcription, translation, messenger RNA, transfer RNA and the template
(antisense) DNA strand
Amino Acids
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Structure (carboxyl and amine groups)
Peptide bond formation and define protein’s primary structure
Secondary protein structure
Tertiary protein structure (globular and fibrous proteins and types of bonds
involved in three-dimensional structure).
Enzymes
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Definition and examples of enzymes inside cells aswell as digestive enzymes
Identify how enzymes work (reduce activation energy)
Lock and key model of action, including description of E-S complexes.
Effect of temperature, pH and concentration of substrate and enzyme
Membranes
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Structure of the fluid mosaic model of cell membranes
Diffusion
Osmosis
facilitated diffusion
active transport
endocytosis
exocytosis
Mammalian Gas Exchange
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Identify the properties of gas exchange surfaces in living organisms (large
surface area to volume ratio, thickness of surface, difference in concentration)
Identify how the structure of the mammalian lung is adapted for rapid gaseous
exchange.
Process of ventilation
Inheritance
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Define the term mutation and identify the different types of mutation
Identify differences between continuous and discontinuous variation
Define the term gene, allele, genotype, phenotype, recessive, dominant,
homozygous, heterozygous
Use monohybrid inheritance to interpret outcomes, including the interpretation
of genetic pedigree diagrams, in the context of traits such as cystic fibrosis,
albinism, thalassaemia, garden pea height and seed morphology.
CF
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Identify how a mutation in the CTFR gene lead to symptoms of CF
Identify how CF impairs the functioning of the gaseous exchange, digestive
and reproductive systems.
Identify simple treatments for CF
Describe the principles of gene therapy and distinguish between somatic and
germ line therapy for treating diseases such as CF
Genetic screening
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The uses of genetic screening: identification of carriers, preimplantation
genetic diagnosis and prenatal testing (amniocentesis and chorionic villus
sampling).
Identify and discuss the social and ethical issues related to genetic screening
from a range of ethical viewpoints.