03 Inheritance and Variation - part 12 - Genetic Disorders

03 Inheritance and Variation - part 12 - Genetic Disorders Genetic Disorders : Genetic Disorders are broadly grouped into two categories as - Mendelian disorders and Chromosomal disorders Mendelian discorders : Mainly caused due to alteration or mutation in the gene . e.g. thalassemia, sicklecell anaemia, colourblindness, haemophilia, phenylketonuria, etc. Chromosomal disorders : Caused due to absence or excess of one or more chromosomes or their abnormal arrangment. For eg, Down's syndrome, Turner's syndrome, Klinefelter's syndrome etc. Thalassemia : Thalassemia is an autosomal, inherited recessive disease. Haemoglobin molecule is made of four polypeptide chains- 2 alpha (a) and 2 beta (b) chains. The synthesis of alpha chains are controlled by two closely linked genes (HBA1 and HBA2) on chromosome 16. Synthesis of beta chain is controlled by a single gene (HBB) ...