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10 Cards in this Set
- Front
- Back
Definition of mutation |
Mutation is a change in the amount or structure of DNA of the structure or number of chromosomes This change is spontaneous /random Caused by mutagens such as in base sequence DNA
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What is Gene mutation |
Changes in the DNA e.g. sickle cell anaemia Substitution mutation |
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What is chromosome mutation |
Changes to structure or number of chromosomes E.g. downs syndrome |
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Mutation in somatic cells |
Only passes to cells produced by mitosis from the mutated cell Not inherited |
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Mutation in a cell that will becomr a gamate |
If the mutated cell is fertilised, all cells of the embryo will have the mutation It is inherited |
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What is Sickle cell amaemia caused by |
Single sibstitution of 2 co-dominant alleles -Hb^N Hb^N normal red bloof cells -Hb^N Hb^n 30-40% rbcs are sickle -Hb^n Hb^n- poor health requiring regular blood transfusions Early death before reproductive age |
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Substitution in sickle cell anaemia |
Substitution in the gene that codes for ine of the polypeptides in haemoglobin |
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Shape of sickle red blood cells |
● normal shape Contains haemoglobin < sickle shaped Contains mutates haemoglobin |
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Effects if sickle cell |
Poor co2 and o2 carrying capacity Can block small blood vessels Some resistance to malaria -heterozygous advantage |
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Differences between normal |
Sickle cell- glutamic codon is CTT or CTC Normal- valine codin is CAT or CAC |