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Chapter 11

This chapter delves deeper into current topics in DNA analysis.  It’s a more advanced chapter that is built upon the foundation from the last one, so be sure you are comfortable with that material.  Our focus will be on two topics – complex mixtures and lineage markers.   

The analytical techniques used in DNA profiling have been constantly improving, reaching lower and lower detection limits.  This can be a mixed blessing in that trace amounts of DNA that might not have been detected years ago are now recoverable. More information results but sorting the relevant from irrelevant has become more challenging as a result.  We will touch upon difficulties and opportunities presented by trace levels of DNA that lead to complex mixtures.   

Lineage markers are DNA fragments that are passed on from one parent to a child. Mitochondrial DNA comes from our mothers (the maternal line).  Men carry Y-STRs from their fathers (the paternal line). We will see how lineage markers are utilized in forensic situations.  We will also touch upon investigative genetic genealogy and the use of probabilistic software used for mixture analysis. 

11.1 Describe the fundamentals of DNA as transfer and trace evidence and the concept of low copy number. 

11.2 Recognize the characteristics of simple and more complex DNA mixtures 

11.3  Appreciate the advantages and limitations of probabilistic genotyping software for mixture interpretation. 

11.4 Differentiate between the different lineage markers used in forensic settings such as missing persons cases. 

11.5 Understand basic features of investigative genetic genealogy. 

Question 1

Match the term or statement with the most appropriate definition 

Sex chromosomes
Nuclear DNA
X,Y
STR
Autosomal chromosomes
Mitochondrial DNA
Lineage markers
STRs
Nuclear DNA, 22 pairs
Nuclear DNA, 1 pair
Reported as genotypes
Found in the cytoplasm of all cells that include lineage markers
Nuclear DNA sex chromosomes that contain lineage markers
DNA found in the nucleus; absent in red blood cells
Reported as haplotypes
Autosomal genetic markers, including STRs
Question 2

How many allele peaks would be observed at a single locus in each of the following binary mixtures? 

Question 3

Match the term to the most appropriate definition 

Prevalence
Persistence
Transfer
Background DNA
Recovery
The occurrence of cellular material, or DNA, of a person of interest on a surface or in the environment. This can, for instance, be the scene of a crime or a single item of clothing
The cellular material or DNA remaining on a surface under various conditions over time
Prevalence of cellular material, or DNA, of unknown or known, but irrelevant, individuals within the context of the case (e.g., DNA of the victim on their personal item), which may be present before an activity or be deposited during or after an activity
The deposition of cellular material or DNA on a surface
The process of targeting, sampling, extracting, and analyzing a trace

The hot spot activity will be added shortly.