SNAB Genes and Health (Topic 2) Flashcards

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  • Created by: tj800
  • Created on: 09-06-19 13:03
Primary Structure
The sequence of amino acids in the polypeptide chain - held together by peptide bonds.
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Secondary Structure
Alpha helices or Beta pleated sheets - held together by hydrogen bonds.
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Tertiary Structure
Overall 3D structure determined by chemical bonds and hydrophobic interactions of R groups - ionic bonds/disulphide bonds/hydrophobic and hydrophilic interactions.
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Quarternary Structure
If a protein has more than one polypeptide chain, this is how they are bonded together.
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Globular Proteins
Spherical shape with hydrophilic parts facing outwards and hydrophobic parts facing inwards. Soluble.
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Haemoglobin
Globular protein - 4 polypeptide chains, easily transported in the blood as is soluble, iron - containing haem groups that bind to oxygen.
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Fibrous Proteins
Long, insoluble polypeptide chains tightly coiled around each other, can be cross linked to increase strength.
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Collagen
Fibrous protein - 3 polypeptide chains, chains are wound like rope and joined by hydrogen bonds, they cross link with other strands to increase strength.
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Enzyme Structure
Active site shape is determined by tertiary structure - can be affected by temperature or pH
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DNA mononucleotide
A phosphate group, a deoxyribose sugar, 1 base (A/C/T/G)
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RNA mononucleotide
A phosphate group, a ribose sugar, 1 base (A/C/U/G)
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Double Helix Structure
Hydrogen bonding between the bases (a-t/c-g). 2 bonds between A-T and 3 between C-G). Anti parallel polynucleotide strands twist to form a double helix.
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mRNA
Made in nucleus during transcription, 3 adjacent bases = codon, carries genetic code from nucleus to ribosome
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tRNA
found in cytoplasm, amino acid binding site at one end and an anticodon on the other end, carries amino acids to the ribosomes.
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Genetic Code Qualities
Non - overlapping and Degenerate
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Transcription
1) RNA polymerase attaches to DNA. Hydrogen bonds break and double helix unwinds. One strand is the template strand. RNA polymerase lines up RNA mono nucleotides and RNA polymerase then joins them up. The hydrogen bonds between DNA strands reform.
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Translation
mRNA attaches to a ribosomes and tRNA molecules with complementary anticodons attach to the mRNA. Two amino acids are joined by a peptide bond then the first tRNA molecule moves away. This continues to form a polypeptide chain until a stop codon.
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DNA Replication
DNA helicase breaks the hydrogen bonds between bases two unwind double helix. Bases match up using complementary base pairing. DNA polymerase joins the nucleotides with condensation reactions and hydrogen bonds form between bases.
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Semi Conservative Replication
Each DNA molecule contains one original parent strand and one new strand.
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Conservative Replication
One DNA molecule has two original parent DNA strands, the other has two 'new' strands.
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Fragmentary Replication
All DNA strands made up of a mixture of parent DNA nucleotides and new nucleotides.
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Types of mutation
Substitution, deletion, insertion, duplication, inversion
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Allele
Different version of a gene.
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Monohybrid Inheritance
Inheritance of a single characteristic controlled by different alleles.
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How does cystic fibrosis happen?
It is a mutation in the gene that codes for the CFTR protein. This is a channel protein that transports chloride ions out of cells and into mucus. CF causes sticky mucus.
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How does CF affect the respiratory system?
Mucus is too sticky for cilia to move towards the throat. Mucus builds up in airways and can block them which stops gas exchange - more prone to lung infections as microorganisms in mucus aren't removed.
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How does CF affect the digestive system?
Tube between pancreas and small intestine can be blocked by mucus. This means digestive enzymes made in the pancreas cant be taken to the small intestine meaning food is not broken down. Enzymes trapped in the pancreas can damage pancreas.
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Affect of mucus on pancreas?
Sticky mucus can cause fibrous cysts to form which inhibit the production of enzymes. Mucus in lining of small intestine inhibits absorption of nutrients.
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How can CF cause diabetes?
If enzymes are trapped in the pancreas then they can damage pancreatic cells that produce insulin leading to a lower insulin level.
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How does CF affect the reproductive system in men?
Tubes connecting testicles and penis can be absent or blocked by mucus meaning that sperm cannot reach the penis.
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How does CF affect the reproductive system in women?
Thick cervical mucus can prevent sperm reaching the egg.
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Carrier Testing
Couples tested before having a baby to see if they are carriers so that they know the chances of their offspring having CF.
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Preimplantation Genetic Diagnosis
PGD uses embryos from IVF.
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Amniocentesis
15-20 weeks of pregnancy. Amniotic fluid with fetal cells is analysed. 1% risk of miscarriage.
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Chorionic Villus Sampling
11- 14 weeks of pregnancy. Fetal cells are taken from chorionic villi which are analysed. 1-2% risk of miscarriage.
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Other cards in this set

Card 2

Front

Alpha helices or Beta pleated sheets - held together by hydrogen bonds.

Back

Secondary Structure

Card 3

Front

Overall 3D structure determined by chemical bonds and hydrophobic interactions of R groups - ionic bonds/disulphide bonds/hydrophobic and hydrophilic interactions.

Back

Preview of the back of card 3

Card 4

Front

If a protein has more than one polypeptide chain, this is how they are bonded together.

Back

Preview of the back of card 4

Card 5

Front

Spherical shape with hydrophilic parts facing outwards and hydrophobic parts facing inwards. Soluble.

Back

Preview of the back of card 5
View more cards

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