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Human Genetic Disorders - Mendelian Disorders in Humans

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CBSE: Class 12
CISCE: Class 12

Key Points: Mendelian Disorders in Humans

Disorder Inheritance Type Chromosome Involved Main Defect Key Features
Haemophilia X-linked recessive X-chromosome Defective blood-clotting protein Excessive bleeding from minor cuts; mainly affects males
Colour Blindness X-linked recessive X-chromosome Defect in red/green cone pigments Inability to distinguish red and green colours
Sickle-Cell Anaemia Autosomal recessive Autosome (Chr 11) Valine replaces glutamic acid in β-globin Sickle-shaped RBCs, anaemia, reduced oxygen transport
Phenylketonuria (PKU) Autosomal recessive Autosome Lack of enzyme converting phenylalanine to tyrosine Mental retardation due to phenylalanine accumulation
Thalassaemia Autosomal recessive Autosomes (Chr 11 / 16) Reduced synthesis of α or β globin chains Severe anaemia, fragile RBCs
Albinism Autosomal recessive Autosome Absence of tyrosinase enzyme → no melanin Very pale skin, hair and eyes; sun sensitivity
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