Genes and Proteins in Health. and Disease

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1 Genes and Health and

2 I can describe the structure of proteins All proteins contain the chemical elements Carbon, Hydrogen, Oxygen and Nitrogen. Some also contain sulphur. Proteins are built from subunits called amino acids; there are 20 different types. Proteins can range in size from a few amino acids to thousands linked together.

3 I can explain why proteins have a variety of shapes Amino acids are linked by peptide bonds to form polypeptides Hydrogen bonds form between amino acids causing the polypeptide chain to coil or fold into different 3D shapes.

4 I can describe the function of fibrous proteins Fibrous proteins are composed of spiral shaped polypeptide molecules linked together to form a rope-like structure. Elastin in the walls of arteries is an example allowing flexible support.

5 I can describe the function of fibrous proteins Keratin strong and inelastic protects hair. Actin and myosin allow contraction of muscles for movement.

6 Globular proteins are composed of many polypeptide chains folded together like a ball of string. I can describe the function of globular proteins Enzymes, hormones and antibodies are examples of globular proteins.

7 I can describe the function of conjugated proteins Globular proteins associated with a non-protein chemical. Globular protein Non-protein chemical haemoglobin

8 I can describe how DNA mutations occur. MUTATION = change to an organisms genotype in terms of both structure and mass of genetic material present MUTANT = an organism that displays the genotypic mutation in its phenotype. Mutations are random events that tend to be recessive so appear in a low number of the population. Mutagenic agents can increase mutation rates e.g. chemicalsmustard gas or radiation - UV rays, X-rays and gamma rays.

9 I can describe genetic disorders. Genetic disorders are caused by changes to genes or chromosomes that result -in the proteins not being expressed. - or the proteins expressed not functioning properly

10 I can describe how DNA mutations occur. Single gene mutations involve altering a DNA nucleotide sequence by: Substitution Insertion of nucleotides Deletion of nucleotides

11 I can describe the effect of gene mutations Only one amino acid is altered so the effects are unlikely to be great. If the amino acid is at a critical place in the protein a defect may occur e.g. sickle cell anaemia, phenylketonuria This is a missense mutation

12 Substitutions which replace an amino acid codon with a stop codon are called nonsense mutations. Duchenne Muscular Dystrophy is caused by this.

13 I can describe the effect of splice site mutations

14 I can describe the effect of splice site mutations If a mutation occurs at a splice site, the codon for an intronexon splice might be affected and an intron retained in error by the modified mrna. This will be translated into an altered protein that doesn t function properly e.g. Beta thalassemia.

15 I can describe causes and effects of frameshift mutations All amino acids after the inserted nucleotide are affected. This is known as a frameshift mutation and is very likely to be fatal to the individual e.g. Tay-Sachs syndrome sufferers die by 4 years old.

16 I can describe causes and effects of frameshift mutations All amino acids after the deleted nucleotide are affected. This is also a frameshift mutation e.g. cystic fibrosis has 3 base pair deletion of gene on chromosome7.

17 I can describe causes and effects of frameshift mutations Trinucleotide repeat expansion involves insertion of a large number of copies of the nucleotide which translates to a defective protein e.g. Huntingdon s disease.

18 I can describe causes and effects of single gene mutations Single gene mutations have an adverse effect on the sufferer of the genetic disorder. Group Task Each pupil select one of the conditions and make notes on the effects for the sufferer. Summarise for your group.

19 I can describe causes and effects of chromosome mutations Chromosome mutations involve the breakage of one or more chromosomes. The broken ends are sticky and can join to another broken end by: 1. Deletion 2. Duplication 3. Translocation This results in a change in the number or sequence of genes in a chromosome. The substantial changes in chromosome mutations often make them lethal.

20 I can describe causes and effects of chromosome mutations Deletion Loss of segment of a chromosome e.g Cri-du-chat syndrome Genes are missing

21 I can describe causes and effects of chromosome mutations Duplication Repeat of a segment of a chromosome. Deleted genes from the matching chromosome become attached to one end or inserted into the chromosome. Common cause of cancer.

22 I can describe causes and effects of chromosome mutations Translocation Rearrangement of chromosomal material involving two or more chromosomes. e.g. chronic myeloid leukaemia, Familial Down s Syndrome

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