A-LevelBiologyGenetic technologyOct/Nov 2021Paper 4 Q412 Marks
Genome-wide association studies find links between single nucleotide polymorphisms (SNPs) and phenotypic features such as human diseases. SNPs are points on the DNA that vary in the population because of DNA base substitutions. A genome-wide association study investigates the effect of genetic variation on a disease. A large number of people with the disease and a large number of healthy control individuals provide DNA. Microarray chips are used to identify the genotype of each individual at many SNPs. The Wellcome Trust Case Control Consortium (WTCCC) study was an important genome- wide association study. • The study used a microarray chip that identified each person's genotype at 500 000 different SNPs. • The study looked for links between SNPs and 7 different diseases. • For each disease, 2000 people with the disease were tested. • Their results were compared with the results of 3000 healthy control individuals.
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