Molecular Pathology- Miscellaneous I
Question No. 15. The Answer is: (A) Heterozygous.
Discussion: Heterozygous individuals will have 1 copy of the mutation/polymorphism and one copy of the normal allele. Homozygous individuals will have 2 copies of the mutation/polymorphism. The term “Compound” is used to refer to several mutations/polymorphisms in the same gene or fragment. Compound heterozygote has one copy of each of two different mutations/polymorphisms while a compound homozygote will have 2 copies of each. The “wildtype” is generally the most common allele (generally unaffected by the disease phenotype).