Leiden mutation is?: (A) Non sense mutation, (B) Mis-sense mutation, (C) Frame shift mutation, (D) Tri nucleotide repeat mutation
Answer is B. Ans. is 'b' i.e., Mis-sense mutation o Factor V Leiden (FVL1 mutation is a mis-sense type of point mutation in the gene for clotting factor V. As a missense substitution of base G to base A, it changes the protein's amino acid from arginine to glutamineo It has autosomal dominant inheritance and is the most common cause of inherited thrombophiliao Factor V is one of the essential clotting factors in the coagulation cascadeo FVL mutation causes activated protein C resistance, hence leading to the hvpercoagulable state.o It is associated with increased risk of DVT & recurrent miscarriages