Molecular Genetics in Med II

Question 1

describe allele specific PCR

Answer 1

• Allele specific PCR can be used to detect single nucleotide changes
• By designing primers which hybridize to the region containing the mutation/polymorphism
• Internal controls can ensure that the PCR is working properly

Question 2

explain results of this allele specific PCR

Answer 2

• We see that control PCR worked for both, so test successful
• Mother doesn’t have a band at allele 2 mutation, so that means she is allele 1 normal homozygous
• Dad and baby have both bands, allele 1 normal and allele 2 mutation, which means they are heterozygous for the mutation.
• They are carriers