SOURCE BOOKLET

CASE STUDY
8 February 2024

**Please make sure you read these sources carefully before answering the
questions of the case study.

THIS SOURCE BOOKLET MAY NOT BE USED FOR PART A

1
QUESTION 1
SOURCE A
Edward’s syndrome
Adapted from: Genetics Homepage: U.S National Library of Medicine
Trisomy 18, also called Edward’s syndrome, is a chromosomal condition associated with
abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth
before birth (intrauterine growth retardation) and a low birth weight. Affected individuals
may have heart defects and abnormalities of other organs that develop before birth. Other
features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and
clenched fists with overlapping fingers. Due to the presence of several life-threatening
medical problems, many individuals with trisomy 18 die before birth or within the first month
after birth. Only 5-10 percent of children with this condition live past their first year, and these
children often have severe intellectual disability.
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in
the body instead of the usual two copies. The extra genetic material disrupts the normal
course of development, causing the characteristic features of trisomy 18. However,
approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in
only some of the body's cells. In these people, the condition is called mosaic trisomy 18. The
severity of mosaic trisomy 18 depends on the type and number of cells that have the extra
chromosome. The development of individuals with this form of trisomy 18 may range from
normal to severely affected.
Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated)
to another chromosome during the formation of reproductive cells (eggs and sperm) or very
early in embryonic development. Affected individuals have two copies of chromosome 18,
plus the extra material from chromosome 18 attached to another chromosome. People with
this genetic change are said to have partial trisomy 18. If only part of the q arm is present in
an extra copy, the physical signs of partial trisomy 18 may be less severe than those typically
seen in trisomy 18. If the entire q arm is present in the third copy, individuals may be as
severely affected as if they had three full copies of chromosome 18.
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy,
but many affected foetuses do not survive to term. Although women of all ages can have a
child with trisomy 18, the chance of having a child with this condition increases as a woman
gets older.
https://www.ncbi.nlm.nih.gov/gtr/conditions/C0152096/)

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SOURCE B
Karyotypes of person A, B and C.

https://www.researchgate.net/figure/R-banding-patterns

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SOURCE C
Graph showing how maternal ages influences the risk of conceiving a child with various
disorders.
From: Centre for Disease Control and Prevention

SOURCE D

From: https://www.slideshare.net/Ameena1994/edwards-syndrome-trisomy-18-62887601

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QUESTION 2
SOURCE E
DNA PROFILING USING STRs

Most individuals of the same species, whether African elephants, portobello mushrooms,
white oak trees, or humans, have nearly identical DNA. But the DNA sequence at certain
locations, or loci, throughout the genome varies among individuals. These variations can be
used to distinguish one individual from another of the same species. The process of
analyzing these DNA variations for the purpose of identification is known as DNA profiling,
or genetic fingerprinting.

While most of the genome is identical among individuals of the same species, differences
do exist. DNA profiling takes advantage of these differences. Variations occur throughout
the genome, and in particular, in regions of noncoding DNA, which is DNA that is not
transcribed and translated into a protein. Variations in noncoding regions are less likely to
affect an individual’s phenotype, and therefore changes in these regions are less likely to be
eliminated by natural selection.

DNA profiling uses a category of DNA variations called short tandem repeats. STRs are
comprised of units of bases, typically two to five bases long, that repeat multiple times. The
repeat units are found at different locations, or loci, throughout the genome.

Taken and adapted from: hhmi, Biointeractive, Student Handout

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SOURCE F

How DNA Profiling (or DNA Fingerprinting) Works

DNA profiling is a forensic technique used to identify individuals based on differences,

or variations, in their DNA sequence.

Some regions of the DNA in your cells' chromosomes have a large number of differences
among individuals, and even between an individual's two copies. One type of highly variable
sequence consists of STRs.

-AAGTCTACTACTACTACTACTACTACTACTACGAATCA-

All STRs contain a repeat unit of a few bases, or nucleotides. In the strand of DNA as shown
above, the repeat unit is CTA. There are 9 repeats of the CTA sequence. The bases or
nucleotides adjacent to the repeats are referred to as flanking sequences. An individual can
have two versions, or alleles, of an STR sequence, one from each parent—for example, one
allele with 9 CTA units and one with five CTA units. There may be many different alleles
among individuals in a population, with each allele having a different number of repeat units.

An individual's DNA profile consists of STRs from several locations, or loci, throughout the
genome. A DNA profile can be visualized as a pattern of bands on an agarose gel
after electrophoresis, with each STR yielding one or two bands for one individual. Because
STRs are so highly variable, the likelihood of two individuals possessing the exact same DNA
profile is low. If you sample enough loci, the pattern of bands in an individual’s DNA profile
can be considered unique and can be used to identify individuals, much like a fingerprint. In
fact, DNA profiling is also called DNA fingerprinting.

DNA profiling starts with isolating DNA from an organism's cells, including from hair roots,
saliva, body tissue, and even elephant tusks and dung. A single sample does not provide
enough DNA to analyze, so scientists use a technique called the PCR to amplify (make billions
of copies of) certain regions of an individual's DNA.

Amplifying STRs and Determining Their Sizes

The end product is a DNA sample that contains billions of copies of individual STR fragments.
After PCR, DNA samples from each individual are placed in their own wells on an agarose gel.
An electrical current is then applied to the gel, causing the negatively charged DNA to move
toward the positively charged electrode. The longer the DNA fragment, the more slowly it
moves through the gel. By the end of the "run," the fragments are separated out; the longest
ones will be closest to the starting point and the shortest ones will be nearest the far end.

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Using DNA Profiling to Identify Individuals

Below are the DNA profiles of six poached elephants plus a profile of seized ivory from an unknown
elephant. Your goal is to find an exact match (which means that all the bands for all the markers are in
the same positions) between the ivory sample on the far left and one of the elephants.

Taken and adapted from: http://media.hhmi.org/biointeractive/click/elephants/dna/one-crime-

scene.html

SOURCE G
Croydon, South London

Sally Anne Bowman’s partly clothed body was found in a pool of blood in Croydon, South
London in 2005. Police had taken DNA from 1,700 men who volunteered as part of the
investigation into the murder, but the screening produced nothing.

Mark Dixie was arrested in 2006 after a fight at the pub in Surrey where he was a chef. His
DNA was taken and checked on the National DNA Database. His DNA profile was found to
match DNA taken from the crime scene of Sally Anne’s murder nine months earlier. Mark
Dixie was convicted of the murder in 2008. The case led to calls for everyone’s DNA to be
put on the database in the hope that similar matches would be found.

Taken from: http://bit.ly/DNA_case_2

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SOURCE H
Frimley, Surrey

Michael Little, 53, died when a brick smashed into the cab of his lorry as he drove on the
M3 in Surrey in March 2003. DNA taken from the brick thrown through Mr Little’s cab was
checked against the national database but no matches were found.

Police then tried a technique known as familial searching, which is based on the fact that
individuals who are related are more likely to have similar DNA. 25 individuals with similar
(but not matching) DNA to the sample found on the brick were identified, and a relative of
Craig Harman was the closest match.

The police used this knowledge to identify Craig Harman as a suspect and asked him to give
a DNA sample (his DNA did not show up in the original search as he did not have a criminal
record). His DNA matched exactly to the sample on the brick. In April 2004 he pleaded guilty
to manslaughter, becoming the first person in the world to be successfully prosecuted using
familial searching.

Taken from: http://bit.ly/DNA_case_4

QUESTION 3
SOURCE I

8
SOURCE J

END OF SOURCE BOOKLET