Biology 9700 · AS & A Level · Principles of genetic technology
Principles of genetic technology — practice question
Genome-wide association studies detect connections between single nucleotide polymorphisms (SNPs) and phenotypic traits such as human diseases. SNPs are positions in DNA that differ within a population because of DNA base substitutions.
A genome-wide association study examines how genetic variation affects a disease. A very large number of affected people and a very large number of healthy control individuals supply DNA. Microarray chips are then used to determine each individual's genotype at many SNPs.
The Wellcome Trust Case Control Consortium (WTCCC) study was a major genome-wide association study. It used a microarray chip that determined each person's genotype at $500\,000$ different SNPs. The study searched for associations between SNPs and $7$ different diseases. For each disease, $2000$ people with the disease were tested. Their findings were compared with those from $3000$ healthy control individuals.
(a(i))[4]
Describe how microarrays are applied when analysing genomes.
(a(ii))[2]
Explain why bioinformatics was important in the WTCCC study.
(b(i))[1]
Identify which chromosomes contain SNPs with a strong association to both rheumatoid arthritis and Type 1 diabetes.
(b(ii))[2]
Using Fig. 4.1, compare the genetic basis of the three diseases.
(c)[3]
Outline the social and ethical considerations linked to this type of DNA analysis.
Worked solution & mark scheme
This 12-mark question has a full step-by-step worked solution and mark scheme. One marking point: “Single-stranded DNA obtained” …