Shared Flashcard Set

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Unit 1 Key Area 4 Word Bank
Genes and protiens in health and disease
29
Anatomy
Intermediate
05/25/2017

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Cards

Term
All proteins contain
Definition
Carbon, Hydrogen, Oxygen and Nitrogen
Term
Proteins are made from amino acids
Definition
linked by peptide bonds to form polypeptide chains
Term
The sequence of amino acids
Definition
determines the structure and function of the protein
Term
Proteins and held in a 3D shape by
Definition
peptide bonds, hydrogen bonds and interactions between amino acids as well as sulphur bridges
Term
Polypeptide chains can be
Definition
arranged in long, parallel strands; spherical in shape; spherical and contain a non-protein part
Term
Proteins have a large variety of functions:
Definition
eg. hormones, antibodies, enzymes,structural proteins
Term
A mutation is a
Definition
change in structure or composition of an organism’s genes
Term
Mutagenic agents
Definition
INCREASE the change of mutations eg. x-rays, UV light, Gamma rays
Term
Mutations can result in
Definition
no protein being produced or a faulty protein being expressed
Term
Mutations can
Definition
alter single genes or whole CHROMOSOMES
Term
Point mutations(SID)include
Definition
The Substitution,Insertion or Deletion of base pairs in DNA
Term
Splice site mutations
Definition
can result in INTRONS being retained in the mature transcript which then codes for the WRONG protien
Term
Single gene mutations involve the
Definition
alteration of a DNA nucleotide sequence
Term
Examples of single gene mutations:
Definition
Substitution, Insertion, Deletion
Term
A point mutation
Definition
involves a change in one nucleotide
Term
Missense
Definition
replacing one amino acid codon with another which results in a protein which may still function to a lesser extent causing illness
Term
Nonsense
Definition
replacing an amino acid codon with a premature stop codon so no amino acid is made
Term
Splice site mutation
Definition
creates or destroys the codons for exon-intron splicing
Term
Nucleotide insertions or deletions result in
Definition
frame shift mutations or the expansion of a nucleotide sequence repeat
Term
Chromosome mutations include (DDT):
Definition
Deletion, Duplication and Translocation
Term
Chromosome mutations are often
Definition
lethal due to the substantial changes they make to a genotype
Term
A genetic disorder
Definition
is a condition or disease that is directly related to the individual’s genotype
Term
A mutant
Definition
an individual affected by a mutation which causes their genotype to produce a change in phenotype
Term
Transcription happens in the
Definition
nucleus
Term
Translation happens at the
Definition
Ribosomes
Term
Protiens are made of
Definition
20 Amino acids
Term
Protiens are made in
Definition
Cells
Term
The type of bonds found in Protiens are called
Definition
Peptide bonds
Term
Mature mRNA transcripts should contain no
Definition
Introns
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