Paper 3 extra information (Bañuelos et al.)

Question 1

• Shows links between hair, eye and other facial prediction mechanisms with genome-wide association studies
• Compare SNPs and STRs to facial feature prediction and phenotypic and medical issues respectively
• Microsatellite regions: microsatellites and vulnerable to DNA mismatch errors and are used to detect cancer with mixmatch repair deficiency–> indels can be detected by direct PCR
• STR de novo mutation, roughly 54 autosomal mutations per individual, only a subset of mutations have deleterious effects
• At present no demonstration that forensic ST variants directly cause or predict disease
• STRs are about 3% of the genome and are non-coding
• increasing evidence that non-coding sequences like STRs may be involved in gene regulation and hence phenotypes