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10 Cards in this Set

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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


What is Gene mutation

Changes in the DNA e.g. sickle cell anaemia


Substitution mutation

What is chromosome mutation

Changes to structure or number of chromosomes


E.g. downs syndrome

Mutation in somatic cells

Only passes to cells produced by mitosis from the mutated cell


Not inherited

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

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

Substitution in sickle cell anaemia

Substitution in the gene that codes for ine of the polypeptides in haemoglobin

Shape of sickle red blood cells

● normal shape


Contains haemoglobin


< sickle shaped


Contains mutates haemoglobin

Effects if sickle cell

Poor co2 and o2 carrying capacity


Can block small blood vessels


Some resistance to malaria


-heterozygous advantage

Differences between normal

Sickle cell- glutamic codon is CTT or CTC


Normal- valine codin is CAT or CAC