Seeking to rescue those under the stress of IB

Wednesday, 19 March 2014

4.1 Chromosomes, genes, alleles and mutations


Eukaryote chromosomes

Eukaryote chromosomes are made of DNA and proteins.

Definition of gene, allele and genome
Gene - a heritable factor that controls a specific characteristic.
Allele - one specific form of a gene.
Genome - whole of the genetic information of an organism.

Definition of gene mutation
Gene mutation - a change to the base sequence of a gene.

Consequence of a base substitution mutation
Sickle cell anemia occurs when a \base substitution mutation converts sixth codon of the gene from GAG to GTG. Allele with this gene is Hb5 instead of Hb4. When the Hb5 is transcribed, the amino acid produced will be valine instead of glutamic acid. This causes hemoglobin to stick together in tissues with low oxygen concentrations. Chains of hemoglobin join together into bundles that are rigid to distort red blood cells into sick shape. They also damage tissues because they become trapped in blood capillaries, blocking/reducing blood flow. Hemoglobin cannot effectively carry oxygen, causing individual to feel tired; it also causes anemia (low RBC count), as sickle cells are destroyed more easily. Also, sickle cell anemia has been known to cause malaria resistance.

No comments:

Post a Comment