Question

In a small southern Italian village, there is a high frequency allele in the village population. This allele is a mutant variant of the normal hemoglobin gene, and the allele has a deletion of a large section of a big exon in the alpha chain hemoglobin gene—the resulting protein is missing 27 amino acids compared to the normal hemoglobin protein. Suggest 2 methods by which we might detect heterozygote carriers of this allele, and explain your logic. Hint—pedigree analysis is NOT one of these methods.

Answer 1

1.PCR.

Polymerase chain reaction (PCR) is a common technique for making numerous copies of short DNA sections from a very small sample of genetic material.

2. DNA sequencing

Is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes.