Q36 - A Frameshift Mutation Causing Ficolin-3 Deficiency

Theoretical A Real exam question - full text reproduced under IBO's CC BY-NC-SA 4.0 license

Ficolins are important immune system proteins, e.g. ficolin-3. Consequently, patients with ficolin-3 deficiency may suffer from several complications. This deficiency is caused by a mutation in the ficolin exon (A). Samples of ficolin-3 in the blood from five family members were analyzed, using electrophoresis (B). Western blots of serum ficolin-3 from a family without any sick members except for the patient (5): The patient’s sisters (1 and 2), mother (3), and father (4), compared to a control with ficolin-3 added (6).

Figure 1. Figure 1.

Using the information and data, determine which of the statements are true or which are false.

A. The mutation is a frame-shift mutation

B. If a child lacks ficolin-3 protein, at least one of her/his parents should have the same phenotype

C. All three possible genotypes of the ficolin-3 gene can be determined using Western blots

D. Sister (1) might be heterozygous

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Question reproduced from IBO 2015, Theoretical Exam A, licensed under CC BY-NC-SA 4.0 - attributed to the International Biology Olympiad. Open the full exam PDF · Community solutions (unofficial)