IB Biology

GENETICS 1
4.1 Chromosomes, genes, alleles and mutations
4.1.1 State that eukaryote chromosomes are made of DNA and proteins. Eukaryote chromosomes are made of DNA and proteins.

4.1.2 Define gene, allele and genome. Gene: a heritable factor that controls a specific characteristic. Allele: one specific form of a gene, differing from other alleles by one or a few bases only and occupying the same gene locus as other alleles of the gene. Genome: the whole of the genetic information of an organism.

4.1.3 Define gene mutation.

Gene mutation: a permanent change in the sequence of base pairs in the DNA that makes up a gene DNA sequence is altered due to a base addition, deletion or substitution The specific sequence for amino acids is altered resulting in an altered protein This may have little or no effect on the organism, or it may have a major influence on physical characteristics E.g.) Base substitution mutation: a mutation that results from the substitution of a single nitrogenous base for another, altering the protein 4.1.4 Explain the consequence of a base substitution mutation in relation to the processes of transcription and translation, using the example of sickle-cell anemia. Sickle-cell anemia (Hbs) a chronic usually fatal anemia marked by sickle-shaped red blood cells (RBCs). The disease occurs in individuals who are homozygous for the mutant hemoglobin gene. Hbs Hbs Hemoglobin (Hb) quaternary protein structure that carries oxygen in RBCs Made up of four polypeptide chains In one of the chains a single base substitution results in a different amino acid being produced The 6th amino acid GAG (glutamic acid) becomes GTG (valine) This altered amino acid results in an altered protein structure The valine is hydrophobic and this replaces the hydrophilic glutamic acid This causes the clumping together of Hbs cells into rigid structures causing the sickling of the cells The sickle-cell RBCs can block blood vessels and cause damage to organs Someone who is heterozygous for the mutant gene (Hbs Hb) will not exhibit symptoms

Sickle-cell anemia is a genetic disease that affects red blood cells in the body. It is due to a mutation on the Hb gene which codes for a polypeptide of 146 amino acids which is part of hemoglobin (hemoglobin is an important protein component in red blood cells). In sickle-cell anemia the codon GAG found in the normal Hb gene is mutated to GTG. This is called a base substitution mutation as adenine (A) is replaced by thymine (T). This means that when the mutated gene is transcribed, a codon in the mRNA will be different. Instead of the normal codon GAG, the mRNA will contain the codon GUG. This in turn will result in a mistake during translation. In a healthy individual the codon GAG on the messenger RNA matches with the anticodon CUC on the transfer RNA carrying the amino acid glutamic acid. However, if the mutated gene is present then GUG on the messenger RNA matches with the anticodon CAC on the transfer RNA which carries the amino acid valine. So the base substitution mutation has caused glutamic acid to be replaced by valine on the sixth position on the polypeptide. This results in hemoglobin S being present in red blood cells instead of the normal hemoglobin A. This has an effect on the phenotype as instead of normal donut shaped red blood cells being produced some of the red blood cells will be sickle shaped. As a result these sickle shaped red blood cells cannot carry oxygen as efficiently as normal red blood cells would. However, there is an advantage to sickle cell anemia. The sickle cell red blood cells give resistance to malaria and so the allele Hbs on the Hb gene which causes sickle cell anemia is quite common in parts of the world where malaria is found as it

provides an advantage over the disease.

Summary of important steps: Normal Gene Codon Transcription Translation GAG GAG on mRNA Anticodon CUC and amino acid glutamic acid on tRNA. HbA Normal donut shaped red blood cells. Carry oxygen efficiently but are affected by malaria. Mutated gene GTG GUG on mRNA Anticodon CAC and amino acid valine on tRNA. HbS Sickle cell shaped red blood cells. Do not carry oxygen efficiently but give resistance to malaria.

Haemoglobin Phenotype Effects