Question

Genetic analysis identified a 10 kb segment of human DNA that correlated to a protein-encoded disease phenotype. How would you use at least three methods to identify the 1 nucleotide in this 10 kb that is responsible for the disease phenotype? Note that there are on average ~8 nucleotide polymorphisms in 10 kb. You do have family members, model organisms, and a biochemical assay available to you.

Answer 1

Explanation:

In the given question, the DNA segment of human can be sequenced or analysed through three processes:

2. DNA sequencing: DNA sequencing is the method by which the sequence of the nucleotides which are adenine, thymine, guanine and cytosine are sequenced in the correct order.

1. DNA probes: probes are synthesised nucleotide sequence which binds to specific sites of DNA. Since these probes are complementary to the specific region therefore the DNA polymorphic sequence can be sequenced.  

3. Polymerase chain reaction: PCR is the technique which can amplify or replicate the DNA sequence but this involves the isolation of specific DNA sequence.