DNA profiling

DNA profiling (also called DNA fingerprinting) is t he process of det ermining an individual's DNA
charact erist ics. DNA analysis int ended t o ident ify a species, rat her t han an individual, is called
DNA barcoding.

DNA profiling is a forensic t echnique in criminal invest igat ions, comparing criminal suspect s'
profiles t o DNA evidence so as t o assess t he likelihood of t heir involvement in t he crime.[1] It is
also used in pat ernit y t est ing,[2] t o est ablish immigrat ion eligibilit y,[3] and in genealogical and
medical research. DNA profiling has also been used in t he st udy of animal and plant populat ions in
t he fields of zoology, bot any, and agricult ure.[4]

Background

St art ing in t he 1980s, scient ific advances allowed t he use of DNA as a mat erial for t he
ident ificat ion of an individual. The first pat ent covering t he direct use of DNA variat ion for
forensics was filed by Jeffrey Glassberg in 1983, based upon work he had done while at
Rockefeller Universit y in t he Unit ed St at es in 1981. In t he Unit ed Kingdom, Genet icist Sir Alec
Jeffreys[5][6][7][8] independent ly developed a DNA profiling process beginning in lat e 1984[9] while
working in t he Depart ment of Genet ics at t he Universit y of Leicest er.[10]
Variations of VNTR allele lengths in 6 individuals.

Pit chfork, a local bakery employee, had coerced his coworker Ian Kelly t o st and in for him when
providing a blood sample; Kelly t hen used a forged passport t o impersonat e Pit chfork. Anot her
coworker report ed t he decept ion t o t he police. Pit chfork was arrest ed, and his blood was sent
t o Jeffrey's lab for processing and profile development . Pit chfork's profile mat ched t hat of DNA
left by t he murderer which confirmed Pit chfork's presence at bot h crime scenes; he pleaded
guilt y t o bot h murders.[11]

Alt hough 99.9% of human DNA sequences are t he same in every person, enough of t he DNA is
different t hat it is possible t o dist inguish one individual from anot her, unless t hey are
monozygot ic (ident ical) t wins.[12] DNA profiling uses repet it ive sequences t hat are highly
variable.[12]

Profiling processes

Alec Jeffreys, a pioneer of DNA profiling

DNA extraction

When a sample such as blood or saliva is obt ained, t he DNA is only a small part of what is present
in t he sample. Before t he DNA can be analyzed, it must be ext ract ed from t he cells and purified.
There are many ways t his can be accomplished, but all met hods follow t he same basic
procedure. The cell and nuclear membranes need t o be broken up t o allow t he DNA t o be free in
solut ion. Once t he DNA is free, it can be separat ed from all ot her cellular component s. Aft er t he
DNA has been separat ed in solut ion, t he remaining cellular debris can t hen be removed from t he
solut ion and discarded, leaving only DNA. The most common met hods of DNA ext ract ion include
organic ext ract ion (also called phenol chloroform ext ract ion), Chelex ext ract ion, and solid phase
ext ract ion. Different ial ext ract ion is a modified version of ext ract ion in which DNA from t wo
different t ypes of cells can be separat ed from each ot her before being purified from t he
solut ion. Each met hod of ext ract ion works well in t he laborat ory, but analyst s t ypically select s
t heir preferred met hod based on fact ors such as t he cost , t he t ime involved, t he quant it y of
DNA yielded, and t he qualit y of DNA yielded.[13]

RFLP analysis

Restriction Fragment Length Polymorphism

Polymerase chain reaction (PCR) analysis

STR analysis

The syst em of DNA profiling used t oday is based on polymerase chain react ion (PCR) and uses
simple sequences.[5]

From count ry t o count ry, different STR-based DNA-profiling syst ems are in use. In Nort h
America, syst ems t hat amplify t he CODIS 20[14] core loci are almost universal, whereas in t he
Unit ed Kingdom t he DNA-17 loci syst em (which is compat ible wit h The Nat ional DNA Dat abase)
is in use, and Aust ralia uses 18 core markers.[15]

The t rue power of STR analysis is in it s st at ist ical power of discriminat ion. Because t he 20 loci
t hat are current ly used for discriminat ion in CODIS are independent ly assort ed (having a cert ain
number of repeat s at one locus does not change t he likelihood of having any number of repeat s
at any ot her locus), t he product rule for probabilit ies can be applied. This means t hat , if someone
has t he DNA t ype of ABC, where t he t hree loci were independent , t hen t he probabilit y of t hat
individual having t hat DNA t ype is t he probabilit y of having t ype A t imes t he probabilit y of having
t ype B t imes t he probabilit y of having t ype C. This has result ed in t he abilit y t o generat e mat ch
probabilit ies of 1 in a quint illion (1x1018) or more. However, DNA dat abase searches showed much
more frequent t han expect ed false DNA profile mat ches.[16]

Y-chromosome analysis

Due t o t he pat ernal inherit ance, Y-haplot ypes provide informat ion about t he genet ic ancest ry of
t he male populat ion. To invest igat e t his populat ion hist ory, and t o provide est imat es for
haplot ype frequencies in criminal casework, t he "Y haplot ype reference dat abase (YHRD)" has
been creat ed in 2000 as an online resource. It current ly comprises more t han 300,000 minimal (8
locus) haplot ypes from world-wide populat ions.[17]

Mitochondrial analysis

mt DNA can be obt ained from such mat erial as hair shaft s and old bones/t eet h.[18] Cont rol
mechanism based on int eract ion point wit h dat a. This can be det ermined by t ooled placement in
sample.[19]

Issues with forensic DNA samples

When people t hink of DNA analysis t hey oft en t hink about shows like NCIS or CSI, which port ray
DNA samples coming int o a lab and t hen inst ant ly analyzed, followed by pulling up a pict ure of
t he suspect wit hin minut es⁠. The t rue realit y, however, is quit e different and perfect DNA
samples are oft en not collect ed from t he scene of a crime. Homicide vict ims are frequent ly left
exposed t o harsh condit ions before t hey are found and object s used t o commit crimes have
oft en been handled by more t han one person. The t wo most prevalent issues t hat forensic
scient ist s encount er when analyzing DNA samples are degraded samples and DNA mixt ures.[20]

Degraded DNA

Before modern PCR met hods exist ed it was almost impossible t o analyze degraded DNA
samples. Met hods like rest rict ion fragment lengt h polymorphism or RFLP Rest rict ion fragment
lengt h polymorphism, which was t he first t echnique used for DNA analysis in forensic science,
required high molecular weight DNA in t he sample in order t o get reliable dat a. High molecular
weight DNA however is somet hing t hat is lacking in degraded samples, as t he DNA is t oo
fragment ed t o accurat ely carry out RFLP. It wasn't unt il modern day PCR t echniques were
invent ed t hat analysis of degraded DNA samples were able t o be carried out Polymerase chain
react ion. Mult iplex PCR in part icular made it possible t o isolat e and amplify t he small fragment s
of DNA st ill left in degraded samples. When mult iplex PCR met hods are compared t o t he older
met hods like RFLP a vast difference can be seen. Mult iplex PCR can t heoret ically amplify less
t han 1 ng of DNA, while RFLP had t o have a least 100 ng of DNA in order t o carry out an
analysis.[21]

MiniSTR Analysis

In inst ances where DNA samples are degraded, like in t he case of int ense fires or if all t hat
remains are bone fragment s, st andard STR t est ing on t hese samples can be inadequat e. When
st andard STR t est ing is done on highly degraded samples t he larger STR loci oft en drop out , and
only part ial DNA profiles are obt ained. While part ial DNA profiles can be a powerful t ool, t he
random mat ch probabilit ies will be larger t han if a full profile was obt ained. One met hod t hat has
been developed in order t o analyse degraded DNA samples is t o use miniSTR t echnology. In t his
new approach, primers are specially designed t o bind closer t o t he STR region.[22]

In normal STR t est ing t he primers will bind t o longer sequences t hat cont ain t he STR region
wit hin t he segment . MiniSTR analysis however will just t arget t he STR locat ion, and t his result s
in a DNA product t hat is much smaller.[22]
By placing t he primers closer t o t he act ual STR regions, t here is a higher chance t hat successful
amplificat ion of t his region will occur. Successful amplificat ion of t hese STR regions can now
occur and more complet e DNA profiles can be obt ained. The success t hat smaller PCR product s
produce a higher success rat e wit h highly degraded samples was first report ed in 1995, when
miniSTR t echnology was used t o ident ify vict ims of t he Waco fire.[23]

DNA mixtures

Mixt ures are anot her common issue t hat forensic scient ist s face when t hey are analyzing
unknown or quest ionable DNA samples. A mixt ure is defined as a DNA sample t hat cont ains t wo
or more individual cont ribut ors.[21] This can oft en occur when a DNA sample is swabbed from an
it em t hat is handled by more t han one person or when a sample cont ains bot h t he vict im and
assailant s' DNA. The presence of more t han one individual in a DNA sample can make it
challenging t o det ect individual profiles, and int erpret at ion of mixt ures should only be done by
highly t rained individuals. Mixt ures t hat cont ain t wo or t hree individuals can be int erpret ed,
t hough it will be difficult . Mixt ures t hat cont ain four or more individuals are much t oo convolut ed
t o get individual profiles. One common scenario in which a mixt ure is oft en obt ained is in t he case
of sexual assault . A sample may be collect ed t hat cont ains mat erial from t he vict im, t he vict im's
consensual sexual part ners, and t he perpet rat or(s).[24]

As det ect ion met hods in DNA profiling advance, forensic scient ist s are seeing more DNA
samples t hat cont ain mixt ures, as even t he smallest cont ribut or is now able t o be det ect ed by
modern t est s. The ease in which forensic scient ist s have in int erpenet rat ing DNA mixt ures
largely depends on t he rat io of DNA present from each individual, t he genot ype combinat ions,
and t ot al amount of DNA amplified.[25] The DNA rat io is oft en t he most import ant aspect t o look
at in det ermining whet her a mixt ure can be int erpret ed. For example, in t he case where a DNA
sample had t wo cont ribut ors, it would be easy t o int erpret individual profiles if t he rat io of DNA
cont ribut ed by one person was much higher t han t he second person. When a sample has t hree or
more cont ribut ors, it becomes ext remely difficult t o det ermine individual profiles. Fort unat ely,
advancement s in probabilist ic genot yping could make t his sort of det erminat ion possible in t he
fut ure. Probabilist ic genot yping uses complex comput er soft ware t o run t hrough t housands of
mat hemat ical comput at ions in order t o produce st at ist ical likelihoods of individual genot ypes
found in a mixt ure.[26]

DNA databases
An early applicat ion of a DNA dat abase was t he compilat ion of a Mit ochondrial DNA
Concordance,[27] prepared by Kevin W. P. Miller and John L. Dawson at t he Universit y of
Cambridge from 1996 t o 1999[28] from dat a collect ed as part of Miller's PhD t hesis. There are
now several DNA dat abases in exist ence around t he world. Some are privat e, but most of t he
largest dat abases are government -cont rolled. The Unit ed St at es maint ains t he largest DNA
dat abase, wit h t he Combined DNA Index Syst em (CODIS) holding over 13 million records as of
May 2018.[29] The Unit ed Kingdom maint ains t he Nat ional DNA Dat abase (NDNAD), which is of
similar size, despit e t he UK's smaller populat ion. The size of t his dat abase, and it s rat e of growt h,
are giving concern t o civil libert ies groups in t he UK, where police have wide-ranging powers t o
t ake samples and ret ain t hem even in t he event of acquit t al.[30] The Conservat ive–Liberal
Democrat coalit ion part ially addressed t hese concerns wit h part 1 of t he Prot ect ion of
Freedoms Act 2012, under which DNA samples must be delet ed if suspect s are acquit t ed or not
charged, except in relat ion t o cert ain (most ly serious and/or sexual) offenses. Public discourse
around t he int roduct ion of advanced forensic t echniques (such as genet ic genealogy using public
genealogy dat abases and DNA phenot yping approaches) has been limit ed, disjoint ed, unfocused,
and raises issues of privacy and consent t hat may warrant t he est ablishment of addit ional legal
prot ect ions.[31]

The U.S. Pat riot Act of t he Unit ed St at es provides a means for t he U.S. government t o get DNA
samples from suspect ed t errorist s. DNA informat ion from crimes is collect ed and deposit ed int o
t he CODIS dat abase, which is maint ained by t he FBI. CODIS enables law enforcement officials t o
t est DNA samples from crimes for mat ches wit hin t he dat abase, providing a means of finding
specific biological profiles associat ed wit h collect ed DNA evidence.[32]

When a mat ch is made from a nat ional DNA dat abank t o link a crime scene t o an offender having
provided a DNA sample t o a dat abase, t hat link is oft en referred t o as a cold hit. A cold hit is of
value in referring t he police agency t o a specific suspect but is of less evident ial value t han a
DNA mat ch made from out side t he DNA Dat abank.[33]

FBI agent s cannot legally st ore DNA of a person not convict ed of a crime. DNA collect ed from a
suspect not lat er convict ed must be disposed of and not ent ered int o t he dat abase. In 1998, a
man residing in t he UK was arrest ed on accusat ion of burglary. His DNA was t aken and t est ed,
and he was lat er released. Nine mont hs lat er, t his man's DNA was accident ally and illegally
ent ered in t he DNA dat abase. New DNA is aut omat ically compared t o t he DNA found at cold
cases and, in t his case, t his man was found t o be a mat ch t o DNA found at a rape and assault
case one year earlier. The government t hen prosecut ed him for t hese crimes. During t he t rial t he
DNA mat ch was request ed t o be removed from t he evidence because it had been illegally
ent ered int o t he dat abase. The request was carried out .[34]
The DNA of t he perpet rat or,
collect ed from vict ims of rape, can be st ored for years unt il a mat ch is found. In 2014, t o
address t his problem, Congress ext ended a bill t hat helps st at es deal wit h "a backlog" of
evidence.[35]

Considerations when evaluating DNA evidence

When using RFLP, t he t heoret ical risk of a coincident al mat ch is 1 in 100 billion
(100,000,000,000), alt hough t he pract ical risk is act ually 1 in 1000 because monozygot ic t wins
are 0.2% of t he human populat ion.[36] Moreover, t he rat e of laborat ory error is almost cert ainly
higher t han t his, and oft en act ual laborat ory procedures do not reflect t he t heory under which
t he coincidence probabilit ies were comput ed. For example, t he coincidence probabilit ies may be
calculat ed based on t he probabilit ies t hat markers in t wo samples have bands in precisely t he
same locat ion, but a laborat ory worker may conclude t hat similar—but not precisely ident ical—
band pat t erns result from ident ical genet ic samples wit h some imperfect ion in t he agarose gel.
However, in t his case, t he laborat ory worker increases t he coincidence risk by expanding t he
crit eria for declaring a mat ch. St udies conduct ed in t he 2000s quot ed relat ively high error rat es,
which may be cause for concern.[37] In t he early days of genet ic fingerprint ing, t he necessary
populat ion dat a t o accurat ely comput e a mat ch probabilit y was somet imes unavailable. Bet ween
1992 and 1996, arbit rary low ceilings were cont roversially put on mat ch probabilit ies used in
RFLP analysis rat her t han t he higher t heoret ically comput ed ones.[38]

Evidence of genetic relationship

It is possible t o use DNA profiling as evidence of genet ic relat ionship, alt hough such evidence
varies in st rengt h from weak t o posit ive. Test ing t hat shows no relat ionship is absolut ely cert ain.
Furt her, while almost all individuals have a single and dist inct set of genes, ult ra-rare individuals,
known as "chimeras", have at least t wo different set s of genes. There have been t wo cases of
DNA profiling t hat falsely suggest ed t hat a mot her was unrelat ed t o her children.[39]

Fake DNA evidence

The funct ional analysis of genes and t heir coding sequences (open reading frames [ORFs])
t ypically requires t hat each ORF be expressed, t he encoded prot ein purified, ant ibodies
produced, phenot ypes examined, int racellular localizat ion det ermined, and int eract ions wit h ot her
prot eins sought .[40] In a st udy conduct ed by t he life science company Nucleix and published in
t he journal Forensic Science International, scient ist s found t hat an in vit ro synt hesized sample of
DNA mat ching any desired genet ic profile can be const ruct ed using st andard molecular biology
t echniques wit hout obt aining any act ual t issue from t hat person. Nucleix claims t hey can also
prove t he difference bet ween non-alt ered DNA and any t hat was synt hesized.[41]

DNA evidence in criminal trials

Familial DNA searching

Familial DNA searching (somet imes referred t o as "familial DNA" or "familial DNA dat abase
searching") is t he pract ice of creat ing new invest igat ive leads in cases where DNA evidence
found at t he scene of a crime (forensic profile) st rongly resembles t hat of an exist ing DNA
profile (offender profile) in a st at e DNA dat abase but t here is not an exact mat ch.[42][43] Aft er all
ot her leads have been exhaust ed, invest igat ors may use specially developed soft ware t o
compare t he forensic profile t o all profiles t aken from a st at e's DNA dat abase t o generat e a list
of t hose offenders already in t he dat abase who are most likely t o be a very close relat ive of t he
individual whose DNA is in t he forensic profile.[44]

Familial DNA dat abase searching was first used in an invest igat ion leading t o t he convict ion of
Jeffrey Gafoor of t he murder of Lynet t e Whit e in t he Unit ed Kingdom on 4 July 2003. DNA
evidence was mat ched t o Gafoor's nephew, who at 14 years old had not been born at t he t ime of
t he murder in 1988. It was used again in 2004[45] t o find a man who t hrew a brick from a mot orway
bridge and hit a lorry driver, killing him. DNA found on t he brick mat ched t hat found at t he scene
of a car t heft earlier in t he day, but t here were no good mat ches on t he nat ional DNA dat abase. A
wider search found a part ial mat ch t o an individual; on being quest ioned, t his man revealed he had
a brot her, Craig Harman, who lived very close t o t he original crime scene. Harman volunt arily
submit t ed a DNA sample, and confessed when it mat ched t he sample from t he brick.[46] As of
2011, familial DNA dat abase searching is not conduct ed on a nat ional level in t he Unit ed St at es,
where st at es det ermine how and when t o conduct familial searches. The first familial DNA
search wit h a subsequent convict ion in t he Unit ed St at es was conduct ed in Denver, Colorado, in
2008, using soft ware developed under t he leadership of Denver Dist rict At t orney Mit ch
Morrissey and Denver Police Depart ment Crime Lab Direct or Gregg LaBerge.[47] California was
t he first st at e t o implement a policy for familial searching under t hen At t orney General, now
Governor, Jerry Brown.[48] In his role as consult ant t o t he Familial Search Working Group of t he
California Depart ment of Just ice, former Alameda Count y Prosecut or Rock Harmon is widely
considered t o have been t he cat alyst in t he adopt ion of familial search t echnology in California.
The t echnique was used t o cat ch t he Los Angeles serial killer known as t he "Grim Sleeper" in
2010.[49] It wasn't a wit ness or informant t hat t ipped off law enforcement t o t he ident it y of t he
"Grim Sleeper" serial killer, who had eluded police for more t han t wo decades, but DNA from t he
suspect 's own son. The suspect 's son had been arrest ed and convict ed in a felony weapons
charge and swabbed for DNA t he year before. When his DNA was ent ered int o t he dat abase of
convict ed felons, det ect ives were alert ed t o a part ial mat ch t o evidence found at t he "Grim
Sleeper" crime scenes. David Franklin Jr., also known as t he Grim Sleeper, was charged wit h t en
count s of murder and one count of at t empt ed murder.[50] More recent ly, familial DNA led t o t he
arrest of 21-year-old Elvis Garcia on charges of sexual assault and false imprisonment of a
woman in Sant a Cruz in 2008.[51] In March 2011 Virginia Governor Bob McDonnell announced t hat
Virginia would begin using familial DNA searches.[52]

At a press conference in Virginia on 7 March 2011, regarding t he East Coast Rapist , Prince William
Count y prosecut or Paul Ebert and Fairfax Count y Police Det ect ive John Kelly said t he case
would have been solved years ago if Virginia had used familial DNA searching. Aaron Thomas, t he
suspect ed East Coast Rapist , was arrest ed in connect ion wit h t he rape of 17 women from
Virginia t o Rhode Island, but familial DNA was not used in t he case.[53]

Crit ics of familial DNA dat abase searches argue t hat t he t echnique is an invasion of an individual's
4t h Amendment right s.[54] Privacy advocat es are pet it ioning for DNA dat abase rest rict ions,
arguing t hat t he only fair way t o search for possible DNA mat ches t o relat ives of offenders or
arrest ees would be t o have a populat ion-wide DNA dat abase.[34] Some scholars have point ed out
t hat t he privacy concerns surrounding familial searching are similar in some respect s t o ot her
police search t echniques,[55] and most have concluded t hat t he pract ice is const it ut ional.[56] The
Nint h Circuit Court of Appeals in United States v. Pool (vacat ed as moot ) suggest ed t hat t his
pract ice is somewhat analogous t o a wit ness looking at a phot ograph of one person and st at ing
t hat it looked like t he perpet rat or, which leads law enforcement t o show t he wit ness phot os of
similar looking individuals, one of whom is ident ified as t he perpet rat or.[57]

Crit ics also st at e t hat racial profiling could occur on account of familial DNA t est ing. In t he
Unit ed St at es, t he convict ion rat es of racial minorit ies are much higher t han t hat of t he overall
populat ion. It is unclear whet her t his is due t o discriminat ion from police officers and t he court s,
as opposed t o a simple higher rat e of offence among minorit ies. Arrest -based dat abases, which
are found in t he majorit y of t he Unit ed St at es, lead t o an even great er level of racial
discriminat ion. An arrest , as opposed t o convict ion, relies much more heavily on police
discret ion.[34]
For inst ance, invest igat ors wit h Denver Dist rict At t orney's Office successfully ident ified a
suspect in a propert y t heft case using a familial DNA search. In t his example, t he suspect 's
blood left at t he scene of t he crime st rongly resembled t hat of a current Colorado Depart ment
of Correct ions prisoner.[47]

Partial matches

Part ial DNA mat ches are t he result of moderat e st ringency CODIS searches t hat produce a
pot ent ial mat ch t hat shares at least one allele at every locus.[58] Part ial mat ching does not
involve t he use of familial search soft ware, such as t hose used in t he UK and Unit ed St at es, or
addit ional Y-STR analysis, and t herefore oft en misses sibling relat ionships. Part ial mat ching has
been used t o ident ify suspect s in several cases in t he UK and Unit ed St at es,[59] and has also
been used as a t ool t o exonerat e t he falsely accused. Darryl Hunt was wrongly convict ed in
connect ion wit h t he rape and murder of a young woman in 1984 in Nort h Carolina.[60]

Surreptitious DNA collecting

Police forces may collect DNA samples wit hout a suspect 's knowledge, and use it as evidence.
The legalit y of t he pract ice has been quest ioned in Aust ralia.[61]

In t he Unit ed St at es, it has been accept ed, court s oft en ruling t hat t here is no expect at ion of
privacy, cit ing California v. Greenwood (1988), in which t he Supreme Court held t hat t he Fourt h
Amendment does not prohibit t he warrant less search and seizure of garbage left for collect ion
out side t he curt ilage of a home. Crit ics of t his pract ice underline t hat t his analogy ignores t hat
"most people have no idea t hat t hey risk surrendering t heir genet ic ident it y t o t he police by, for
inst ance, failing t o dest roy a used coffee cup. Moreover, even if t hey do realize it , t here is no
way t o avoid abandoning one's DNA in public."[62]

The Unit ed St at es Supreme Court ruled in Maryland v. King (2013) t hat DNA sampling of
prisoners arrest ed for serious crimes is const it ut ional.[63][64][65]

In t he UK, t he Human Tissue Act 2004 prohibit s privat e individuals from covert ly collect ing
biological samples (hair, fingernails, et c.) for DNA analysis, but exempt s medical and criminal
invest igat ions from t he prohibit ion.[66]

England and Wales

Evidence from an expert who has compared DNA samples must be accompanied by evidence as
t o t he sources of t he samples and t he procedures for obt aining t he DNA profiles.[67] The judge
must ensure t hat t he jury must underst and t he significance of DNA mat ches and mismat ches in
t he profiles. The judge must also ensure t hat t he jury does not confuse t he mat ch probabilit y
(t he probabilit y t hat a person t hat is chosen at random has a mat ching DNA profile t o t he sample
from t he scene) wit h t he probabilit y t hat a person wit h mat ching DNA commit t ed t he crime. In
1996 R v. Doheny[68]

Juries should weigh up conflict ing and corroborat ive evidence, using t heir own common sense and
not by using mat hemat ical formulae, such as Bayes' t heorem, so as t o avoid "confusion,
misunderst anding and misjudgment ".[69]

Presentation and evaluation of evidence of partial or incomplete DNA profiles

In R v Bates,[70] Moore-Bick LJ said:

We can see no reason why partial profile DNA evidence should not
be admissible provided that the jury are made aware of its inherent
limitations and are given a sufficient explanation to enable them to
evaluate it. There may be cases where the match probability in
relation to all the samples tested is so great that the judge would
consider its probative value to be minimal and decide to exclude the
evidence in the exercise of his discretion, but this gives rise to no
new question of principle and can be left for decision on a case by
case basis. However, the fact that there exists in the case of all
partial profile evidence the possibility that a "missing" allele might
exculpate the accused altogether does not provide sufficient
grounds for rejecting such evidence. In many there is a possibility
(at least in theory) that evidence that would assist the accused and
perhaps even exculpate him altogether exists, but that does not
provide grounds for excluding relevant evidence that is available
and otherwise admissible, though it does make it important to
ensure that the jury are given sufficient information to enable them
to evaluate that evidence properly.[71]

DNA testing in the United States

CBP chemist reads a DNA profile to determine the origin of a commodity.

There are st at e laws on DNA profiling in all 50 st at es of t he Unit ed St at es.[72] Det ailed
informat ion on dat abase laws in each st at e can be found at t he Nat ional Conference of St at e
Legislat ures websit e.[73]

Development of artificial DNA

In August 2009, scient ist s in Israel raised serious doubt s concerning t he use of DNA by law
enforcement as t he ult imat e met hod of ident ificat ion. In a paper published in t he journal Forensic
Science International: Genetics, t he Israeli researchers demonst rat ed t hat it is possible t o
manufact ure DNA in a laborat ory, t hus falsifying DNA evidence. The scient ist s fabricat ed saliva
and blood samples, which originally cont ained DNA from a person ot her t han t he supposed donor
of t he blood and saliva.[74]

The researchers also showed t hat , using a DNA dat abase, it is possible t o t ake informat ion from
a profile and manufact ure DNA t o mat ch it , and t hat t his can be done wit hout access t o any
act ual DNA from t he person whose DNA t hey are duplicat ing. The synt het ic DNA oligos required
for t he procedure are common in molecular laborat ories.[74]

The New York Times quot ed t he lead aut hor, Daniel Frumkin, saying, "You can just engineer a crime
scene ... any biology undergraduat e could perform t his".[74] Frumkin perfect ed a t est t hat can
different iat e real DNA samples from fake ones. His t est det ect s epigenet ic modificat ions, in
part icular, DNA met hylat ion.[75] Sevent y percent of t he DNA in any human genome is met hylat ed,
meaning it cont ains met hyl group modificat ions wit hin a CpG dinucleot ide cont ext . Met hylat ion
at t he promot er region is associat ed wit h gene silencing. The synt het ic DNA lacks t his
epigenet ic modificat ion, which allows t he t est t o dist inguish manufact ured DNA from genuine
DNA.[74]

It is unknown how many police depart ment s, if any, current ly use t he t est . No police lab has
publicly announced t hat it is using t he new t est t o verify DNA result s.[76]

Cases
In 1986, Richard Buckland was exonerat ed, despit e having admit t ed t o t he rape and murder of
a t eenager near Leicest er, t he cit y where DNA profiling was first developed. This was t he first
use of DNA fingerprint ing in a criminal invest igat ion, and t he first t o prove a suspect 's
innocence.[77] The following year Colin Pit chfork was ident ified as t he perpet rat or of t he same
murder, in addit ion t o anot her, using t he same t echniques t hat had cleared Buckland.[78]

In 1987, genet ic fingerprint ing was used in a US criminal court for t he first t ime in t he t rial of a
man accused of unlawful int ercourse wit h a ment ally handicapped 14-year-old female who
gave birt h t o a baby.[79]

In 1987, Florida rapist Tommie Lee Andrews was t he first person in t he Unit ed St at es t o be
convict ed as a result of DNA evidence, for raping a woman during a burglary; he was convict ed
on 6 November 1987, and sent enced t o 22 years in prison.[80][81]

In 1990, a violent murder of a young st udent in Brno was t he first criminal case in
Czechoslovakia solved by DNA evidence, wit h t he murderer sent enced t o 23 years in
prison.[82][83]

In 1992, DNA from a palo verde t ree was used t o convict Mark Alan Bogan of murder. DNA
from seed pods of a t ree at t he crime scene was found t o mat ch t hat of seed pods found in
Bogan's t ruck. This is t he first inst ance of plant DNA admit t ed in a criminal case.[84][85][86]

In 1994, t he claim t hat Anna Anderson was Grand Duchess Anast asia Nikolaevna of Russia was
t est ed aft er her deat h using samples of her t issue t hat had been st ored at a Charlot t esville,
Virginia hospit al following a medical procedure. The t issue was t est ed using DNA fingerprint ing,
and showed t hat she bore no relat ion t o t he Romanovs.[87]

In 1994, Earl Washingt on, Jr., of Virginia had his deat h sent ence commut ed t o life imprisonment
a week before his scheduled execut ion dat e based on DNA evidence. He received a full pardon
in 2000 based on more advanced t est ing.[88]

In 1999, Raymond East on, a disabled man from Swindon, England, was arrest ed and det ained
for seven hours in connect ion wit h a burglary. He was released due t o an inaccurat e DNA
mat ch. His DNA had been ret ained on file aft er an unrelat ed domest ic incident some t ime
previously.[89]

In 2000 Frank Lee Smit h was proved innocent by DNA profiling of t he murder of an eight -year-
old girl aft er spending 14 years on deat h row in Florida, USA. However he had died of cancer
just before his innocence was proven.[90] In view of t his t he Florida st at e governor ordered t hat
in fut ure any deat h row inmat e claiming innocence should have DNA t est ing.[88]

In May 2000 Gordon Graham murdered Paul Gault at his home in Lisburn, Nort hern Ireland.
Graham was convict ed of t he murder when his DNA was found on a sport s bag left in t he
house as part of an elaborat e ploy t o suggest t he murder occurred aft er a burglary had gone
wrong. Graham was having an affair wit h t he vict im's wife at t he t ime of t he murder. It was t he
first t ime Low Copy Number DNA was used in Nort hern Ireland.[91]

In 2001, Wayne But ler was convict ed for t he murder of Celia Dout y. It was t he first murder in
Aust ralia t o be solved using DNA profiling.[92][93]

In 2002, t he body of James Hanrat t y, hanged in 1962 for t he "A6 murder", was exhumed and
DNA samples from t he body and members of his family were analysed. The result s convinced
Court of Appeal judges t hat Hanrat t y's guilt , which had been st renuously disput ed by
campaigners, was proved "beyond doubt ".[94] Paul Foot and some ot her campaigners cont inued
t o believe in Hanrat t y's innocence and argued t hat t he DNA evidence could have been
cont aminat ed, not ing t hat t he small DNA samples from it ems of clot hing, kept in a police
laborat ory for over 40 years "in condit ions t hat do not sat isfy modern evident ial st andards",
had had t o be subject ed t o very new amplificat ion t echniques in order t o yield any genet ic
profile.[95] However, no DNA ot her t han Hanrat t y's was found on t he evidence t est ed, cont rary
t o what would have been expect ed had t he evidence indeed been cont aminat ed.[96]

In August 2002, Annalisa Vincenzi was shot dead in Tuscany. Bart ender Pet er Hamkin, 23, was
arrest ed, in Merseyside in March 2003 on an ext radit ion warrant heard at Bow St reet
Magist rat es' Court in London t o est ablish whet her he should be t aken t o It aly t o face a murder
charge. DNA "proved" he shot her, but he was cleared on ot her evidence.[97]

In 2003, Welshman Jeffrey Gafoor was convict ed of t he 1988 murder of Lynet t e Whit e, when
crime scene evidence collect ed 12 years earlier was re-examined using STR t echniques,
result ing in a mat ch wit h his nephew.[98]

In June 2003, because of new DNA evidence, Dennis Halst ead, John Kogut and John Rest ivo
won a re-t rial on t heir murder convict ion, t heir convict ions were st ruck down and t hey were
released.[99]
In 2004, DNA t est ing shed new light int o t he myst erious 1912 disappearance of Bobby Dunbar,
a four-year-old boy who vanished during a fishing t rip. He was allegedly found alive eight
mont hs lat er in t he cust ody of William Cant well Walt ers, but anot her woman claimed t hat t he
boy was her son, Bruce Anderson, whom she had ent rust ed in Walt ers' cust ody. The court s
disbelieved her claim and convict ed Walt ers for t he kidnapping. The boy was raised and known
as Bobby Dunbar t hroughout t he rest of his life. However, DNA t est s on Dunbar's son and
nephew revealed t he t wo were not relat ed, t hus est ablishing t hat t he boy found in 1912 was
not Bobby Dunbar, whose real fat e remains unknown.[100]

In 2005, Gary Leit erman was convict ed of t he 1969 murder of Jane Mixer, a law st udent at t he
Universit y of Michigan, aft er DNA found on Mixer's pant yhose was mat ched t o Leit erman. DNA
in a drop of blood on Mixer's hand was mat ched t o John Ruelas, who was only four years old in
1969 and was never successfully connect ed t o t he case in any ot her way. Leit erman's defense
unsuccessfully argued t hat t he unexplained mat ch of t he blood spot t o Ruelas point ed t o
cross-cont aminat ion and raised doubt s about t he reliabilit y of t he lab's ident ificat ion of
Leit erman.[101][102][103]

In November 2008, Ant hony Curcio was arrest ed for mast erminding one of t he most
elaborat ely planned armored car heist s in hist ory. DNA evidence linked Curcio t o t he crime.[104]

In March 2009, Sean Hodgson—convict ed of 1979 killing of Teresa De Simone, 22, in her car in
Sout hampt on—was released aft er t est s proved DNA from t he scene was not his. It was lat er
mat ched t o DNA ret rieved from t he exhumed body of David Lace. Lace had previously
confessed t o t he crime but was not believed by t he det ect ives. He served t ime in prison for
ot her crimes commit t ed at t he same t ime as t he murder and t hen commit t ed suicide in
1988.[105]

In 2012, a case of babies being swit ched, many decades earlier was discovered by accident .
Aft er undert aking DNA t est ing for ot her purposes, Alice Collins Plebuch was advised t hat her
ancest ry appeared t o include a significant Ashkenazi Jewish component , despit e a belief in her
family t hat t hey were of predominant ly Irish descent . Profiling of Plebuch's genome,
suggest ed t hat it included dist inct and unexpect ed component s associat ed wit h Ashkenazi,
Middle East ern and East ern European populat ions. This led Plebuch t o conduct an ext ensive
invest igat ion, aft er which she concluded t hat he fat her had been swit ched, possibly
accident ally, wit h anot her baby, soon aft er birt h. Plebuch was also able t o ident ify t he
biological ancest ors of her fat her.[106][107]

In 2016 Ant hea Ring, abandoned as baby, was able t o use a DNA sample and DNA mat ching
dat abase t o discover her deceased mot her's ident it y and root s in Count y Mayo, Ireland. A
 recent ly developed forensic t est was subsequent ly used t o capt ure DNA from saliva left on
old st amps and envelopes by her suspect ed fat her, uncovered t hrough painst aking genealogy
research. The DNA in t he first t hree samples was t oo degraded t o use. However, on t he fourt h,
more t han enough DNA was found. The t est , which has a degree of accuracy accept able in UK
court s, proved t hat a man named Pat rick Coyne was her biological fat her.[108][109]

In 2018 t he Buckskin girl (a body found in 1981 in Ohio) was ident ified as Marcia King from
Arkansas using DNA genealogical t echniques[110]

In 2018 Joseph James DeAngelo was arrest ed as t he main suspect for t he Golden St at e Killer
using DNA and genealogy t echniques.[111]

In 2018, William Earl Talbot t II was arrest ed as a suspect for t he 1987 murders of Jay Cook
and Tanya Van Cuylenborg wit h t he assist ance of genealogical DNA t est ing. The same genet ic
genealogist t hat helped in t his case also helped police wit h 18 ot her arrest s in 2018.[112]

DNA evidence as evidence to prove rights of

succession to British titles

DNA t est ing has been used t o est ablish t he right of succession t o Brit ish t it les.[113]

Cases:

Baron Moynihan

Pringle baronet s

See also

Forensic ident ificat ion

Full genome sequencing

Gene mapping

Harvey v. Horan

Ident ificat ion (biology)

Project Innocence

Ribot yping

Int ernat ional Societ y for Forensic Genet ics

Int ernat ional Societ y of Genet ic Genealogy

Portals: Biology Law

Sat ellit e DNA

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Further reading

Kaye DH (2010). The Double Helix and the Law of Evidence (https://books.google.com/books?id=o_ Dtn
QEACAAJ) . Cambridge, MA: Harvard University Press. ISBN 9780674035881. OCLC 318876881 (http
s://www.worldcat.org/oclc/318876881) .
 Koerner BI (13 October 2015). "Family Ties: Your Relatives' DNA Could Turn You Into a Suspect" (http
s://www.wired.com/2015/10/familial-dna-evidence-turns-innocent-people-into-crime-suspects/)
(paper). Wired. pp. 35–38. ISSN 1059-1028 (https://www.worldcat.org/issn/1059-1028) . Retrieved
6 June 2019.

External links

Wikimedia Commons has media relat ed t o DNA profiling.

McKie R (24 May 2009). "Eureka moment t hat led t o t he discovery of DNA fingerprint ing" (ht t p
s://www.t heguardian.com/science/2009/may/24/dna-fingerprint ing-alec-jeffreys) . The
Observer. London.

Forensic Science, St at ist ics, and t he Law (ht t p://for-sci-law-now.blogspot .com/) – Blog t hat
t racks scient ific and legal development s pert inent t o forensic DNA profiling

Creat e a DNA Fingerprint (ht t ps://www.pbs.org/wgbh/nova/sheppard/analyze.ht ml) –

PBS.org

In silico simulat ion of Molecular Biology Techniques (ht t p://insilico.ehu.es/) – A place t o learn
t yping t echniques by simulat ing t hem

Nat ional DNA Dat abases in t he EU (ht t ps://www.kuleuven.be/cbmer/page.php?LAN=E&ID=399

&FILE=subject &PAGE=1)

The Innocence Record (ht t ps://www.innocencerecord.org/) , Winst on & St rawn LLP/The

Innocence Project

Making Sense of DNA Backlogs, 2012: Myt hs vs. Realit y (ht t ps://purl.fdlp.gov/GPO/gpo4534
5) Unit ed St at es Depart ment of Just ice

"Making Sense of Forensic Genet ics" (ht t ps://senseabout science.org/act ivit ies/making-sense-
of-forensic-genet ics/) . 25 January 2017. Ret rieved 19 April 2020. Sense about Science

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