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FIRST CLASS Lecture notes Genetics

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Markers and forensic genetics

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  • August 22, 2022
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  • 2015/2016
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Markers and Forensic Genetics
Genetic markers:
 A genetic marker is some feature in the genome that allows us to
differentiate between different alleles
 All markers reflect differences in DNA sequence, but can represent a
variety of types of differences: differences in base composition of
sequence, presence-absence measures.
 Most types of markers differ in the technology used to assay them and in
the evolutionary processes shaping variation.

Why do we care?
 Markers provide information on genetic differences between individuals
 Forensic genetics – match DNA samples to individuals, families or
population of origin e.g. crime scene investigations, paternity tests,
conservation genetics
 Complex trait genetics – markers used in QTL and GWAS studies
 Measures of genetic diversity – insights into population properties, like
population size which is correlated to allelic diversity.

Not all variation is reflected in markers:
 Copy number variation (CNVs): functionally important genetically identical
sequences can be repeated, but be difficult to detect. Estimated that 0.4%
of genome of unrelated individuals shows copy number differences.

Lots of ways to assay markers:
(focus on the examples on the ‘main’ bullet points)
 RFLP (restriction fragment length polymorphism)
 CAPS (cleaved amplified polymorphic sequences)
 SSLP (simple sequence length polymorphism)
- VNTR (variable number of tandem repeats)
- SSR/STR (simple sequence repeats/simple tandem repeats)
 SCAR (sequence characterised amplified region)
 SNP (single nucleotide polymorphism)
- DASH (dynamic allele-specific hybridisation)
- DNA chip
- DNA sequencing
SSCP (single strand conformation polymorphism)
 AFLP (amplified fragment length polymorphism)
 RAPD (random amplified polymorphic DNA)
 DAF (DNA amplification fingerprinting)
 AP-PCR (arbitrarily primed-PCR)
 ISSR (inter-simple sequence repeat)

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