Human Genetic Disorders MCQ - Practice Questions with Answers

• Broadly, genetic disorders may be grouped into two categories:
  • Mendelian disorders
  • Chromosomal disorders

Mendelian Disorders:

• These are mainly determined by alteration or mutation in the single gene.
• These disorders are transmitted to the offspring on the same lines of the principle of inheritance. 
• The pattern of inheritance of such Mendelian disorders can be traced in a family by the pedigree analysis. 
• Most common and prevalent Mendelian disorders are Haemophilia, Cystic fibrosis, Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalassemia, etc. 
• It is important to mention here that such Mendelian disorders may be dominant or recessive. 
• By pedigree analysis, one can easily understand whether the trait in question is dominant or recessive. Similarly, the trait may also be linked to the sex chromosome as in case of haemophilia.

Chromosomal Disorders:

• The chromosomal disorders are caused due to absence or excess or abnormal arrangement of one or more chromosomes.