LESSON 25
FORENSICS
While DNA sequencing and microarrays are suitable methods to characterize an
individual’s genotype, they are time consuming and expensive. Human identity
testing used in forensic analysis differentiates people based on their STR profiles
(short tandem repeats). This is called DNA fingerprinting.
There are literally thousands of STR loci in the human genome, with simple
sequences (2 to 10bp) tandemly repeated usually 5 to 50 times. Due to their
repetitive nature, the number of repeats can vary between individuals due to
replication and crossing over errors associated with repetitive DNA.
Most forensic analysis uses 13 STR loci called the COmbined DNA Index System or
CODIS which was developed by the Federal Bureau of Investigation (FBI) (Figure
25.15). It also uses the amelogenin locus (AMEL) to differentiate between males
and females.
The amelogenin gene is involved in tooth enamel formation and a copy is present
on both the X and Y chromosomes (Figure 25.15). The copy on the Y chromosome
is 10bp longer, meaning that males carry one short and one long copy of the
gene, whereas females carry two copies of the shorter version. When the region is
amplified by PCR, samples from females will produce a single band (or peak),
while samples from males will result in the production of two bands (or peaks).
Figure 25.15. The 13 CODIS Core STR Loci. The 13 loci used by
the FBI and other forensic labs to perform DNA fingerprinting.
The AMEL locus is also shown with is the amelogenin gene found
on both the X and Y chromosomes. Image courtesy of PD-USGov-
NIST, Wikimedia Commons, Public Domain.
Different alleles of each of these STR loci occur in the human population. For
instance, the D7S820 locus on chromosome 7 has 5 to 16 repeats of the sequence
GATA. That means that there are 12 alleles for D7S820 in the human population
and each person can only have a maximum of two of these alleles.
Someone with D7S820 alleles 13 and 16 must have inherited one copy of D7S820
from one parent with 13 repeats, and a copy of D7S820 with 16 repeats from the
other parent. With 12 different alleles there are 78 different possible genotypes
for D7S820: 12 homozygotes and 66 heterozygotes.
A typical profile shows peaks on a chromatogram (Figure 25.16). A double peak
indicates they are heterozygous for that STR, while a single peak indicates they
are homozygous for that STR.
With 13 STR loci each having multiple possible genotypes, the chances that two
individuals have the same genotype is about 1 in 575 trillion! Furthermore, the
person’s sex (from the Amelogenin locus) and ethnicity can be determined from
their STR profile.
Like the SNPs used by 23andMe and Ancestry to determine a person’s heritage,
most STR alleles are not equally common across different ethnicities. For instance,
of the 12 alleles for D7S820, repeats 5-9 are more common in people of European
ancestry, 10-12 are most common in individuals of Asian ancestry and 13-16 are
most common in individuals of African ancestry.
Figure 25.16. Typical STR Profile Chromatogram. Note double
peaks (e.g. D19S433, vWA, D7S820, D5S818 and FGA) indicate the
individual is heterozygous for these STRs, while a single peak (e.g.
TPOX) indicates the individual is homozygous for this STR. The
AMEL peaks indicate if the individual is male (two peaks) or
female (a single peak). Image courtesy of Original: Sekiyu,
Wikimedia Commons, GNU Free Documentation License,
modified R. Boulianne, 2021.
Try These Question!
Question 1 of 2
The STR profiles for three loci are shown in the table below for DNA isolated
at a crime scene and from three suspects. Which suspect is likely the culprit?
STR DNA at crime scene Suspect 1 Suspect 2 Suspect 3
CSF1PO 7/12 8/11 7/12 7/15
D8S1179 6/6 9/15 6/6 9/12
D21S11 9/10 4/5 9/10 4/9
a. Suspect 1
b. Suspect 2
c. Suspect 3
d. More than one of the suspects could have committed the crime
e. None of the suspects could have committed the crime
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BI226 - Lesson Twenty-five