Question

Describe how mutations cause the following diseases and specifically what the mutation is:
1) Sickle cell anemia

2) G6PD deficiency

3) Thalassemia

4) Chondrodysplasia

5) Ehlers-Danlos Syndrome

Answer 1

1)- sickle cell anemia - it causes the Hb present in rbc to distort to a sickle shape when deoxygenated. the type of mutation is point mutation in which there is change of only nucleotide in the gene for haemoglobin.

2)- G6PD deficiency- the type of mutation is substitution of single nucleotide means it is a point mutation. In this disease due to mutation the cell membrane of RBC become unstable and gets broken down due to absence of enzyme G6PD.

3)-thalassemia - it caused due to mutation in DNA of cells that make haemoglobin making the RBC useless as the oxygen cannot be transported by cells properly . The type of mutation is deletion of genetic material .

4)- condrodysplasia - it is a skeleton disorder characterised by formation of exostoses at the epiphysis and resulting in arrested development and deformity. It is a X linked dominant disease . Occurs due to mutation in PEX7 gene.

5)- ehlers danlos syndrome - this is an inherited disorder and it causes the weakning of connective tissue of our body . It mostly affect skin , joints and blood vessels . It this syndrome there is mutation in 19 genes .