Forensic Applications of Genetics & DNA
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Primer of Mendelian Genetics
1. The outward appearance of an organism (phenotype) is influenced by its hereditary makeup (genotype).
2. Many individual characters are determined more or less directly by hereditary elements called genes.
3. Genes are located on chromosomes, each at a particular physical location called a locus.
[BTW, Genes are made of DNA].
4. Alternative forms of genes are called alleles;
every individual possesses two alleles for each gene, one inherited from each parent.
[Individuals with two identical alleles are homozygotes;
individuals with two dissimilar alleles are heterozygotes].
5. Some alleles (called dominant) mask the phenotypic expression of other alleles (called recessive).
Dominant alleles are symbolized with capital letters (A) &
recessive alleles with lower-case letters (a).
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Genetic Variation in Humans
(See OMIM Online Mendelian Inheritance in Man database)
Morphological: earlobe attachment
Behavioral: tongue-rolling
Biochemical
PTC (phenythiocarbamide) taste sensitivity (demonstration)
The character "PTC sensitivity" is influenced by a
gene (PTC) with
two alleles: "taster" (T) is dominant to "non-taster" (t).
~70% of North American whites are "tasters" (TT or Tt) (PTC pedigree)
ABO blood groups
Isoagglutinin locus (I) on Chromosome 9 has three alleles: IA , IB , IO
A & B alleles are co-dominant: both are expressed in the blood group phenotype
A & B alleles are dominant to O : AA, AO & BB, BO indistinguishable
Matings ("marriages") between males & females produce
Genetics of ABO phenotypes IA IB IO
IA A AB A
IB AB B B
IO A B O
six genotypes (AA, AO, BB, BO, AB, & OO) & four phenotypes (A, B, AB, O)
How common are these alleles, genotypes, & phenotypes in the human population?
[ Digression into MATH of quantifying genetic variation ]
In the ABO example:
Frequency of I - locus alleles Allele IA IB IO
Frequency 0.4 0.1 0.5
Frequency of ABO blood types Phenotype A B AB O
Genotypes IAIA & IAIO IBIB & IBIO IAIB IOIO
Frequency 0.56 0.11 0.08 0.25
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Forensic applications of ABO: exclusion vs. inclusion
1. Forensic blood / semen stains
Stain is AB, accused is O: absence of "match" excludes accused
Stain and accused are both AB;
"match" includes accused, but does not offer positive identification ("proof")
Allele & genotype frequency considerations:
IB is uncommon in western European populations (<10%),
common in Asian populations (> 30%).
f(IB) ~ 0% in some populations: this may influence an investigation
2. Paternity testing:
Scenario 1: Suppose mother is Type A, baby is Type B:
Three putative fathers: can any be the actual father?
#1 (Type A): Yes or No?
#2 (Type B): Yes or No?
#3 (Type O): Yes or No?
Scenario 2: Suppose mother is Type A, baby is Type O:
Same three putative fathers: can any be the actual father?
Note that principle is different
3. Multiple-locus testing
Addition of more loci (e.g., MN, Rh blood factors) refines probability estimates
MN bloodtype is determined by two co-dominant alleles
Frequency of MN blood types MM MN NN f (M) f (N)
US White 0.29 0.50 0.21 0.54 0.46
Crime Scene scenario: Suppose stain & accused are both Type AB / N
Product Rule: joint probability of two events is the product of their separate probabilites
prob. of AB and N blood types = f(AB) x f(NN) = (0.08) x (0.21) = 0.0168
< 2% of US White population has this combination
Is this sufficient for identification, suspicion, and/or exclusion?
Juries can become confused by "conflicting" genetic tests:
Mother is Type A / M, Baby is Type B / M, putative Father is Type B / N
"The ABO test says he could be the father, the MN test says he couldn't :
one of them must be wrong, or should I just ignore both?"
For a good forensic test, choose multiple genetic loci with lots of alleles / locus
All genetic variation eventually comes from DNA molecules
What is the nature of DNA variation?
Is it useful for forensics?
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ABCs of DNA
Genes are made of Deoxyribonucleic acid (DNA)
A double-stranded helix (3-D model: requires chime)
Sugar-phosphate backbone outside
Nitrogenous bases (A,C,G, T) inside
Bases held together by hydrogen bonds
A pairs with T: two H-bonds
G pairs with C: three H-bonds
The genetic function of DNA is directly related to its structure
The order of DNA bases conveys information:
the information is a "genetic code" that specifies protein sequences
Details are discussed in Biology 2250 (Principles of Genetics)
C A T T A G A C T T G A G
DNA is self-complementary: if you know one strand, you know the other
C A T T A G A C T T G A G
G T A A T C T ? ? ? ? ? ? ? ? ? ?
DNA therefore has the capacity for self-replication:
in vivo (in living organisms) [click here for an animation of DNA replication]
or in vitro (in a "test tube", for example in a forensics lab)
We will concentrate on what can be learned from the DNA molecule itself
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Forensic Applications of DNA Biotechnology
Analysis of DNA involves several aspects of biotechnology:
"The use of biological processes to produce goods & services"
Forensic applications are an example of services:
Polymerase Chain Reaction (PCR) [Nobel Prize 1993]
"DNA xeroxing": in vitro (cell-free) DNA "cloning":
Four components & one gadget
DNA template: anything with DNA in it
blood, semen, hair, skin, museum specimen, fossil, etc.
Primers: single-stranded DNA that "stick" to either end of a gene:
DNA polymerase: DNA replicating enzyme
A, C, G, & T: four building-blocks for DNA
Thermal cycler: computer-controlled heating & cooling block
PCR process doubles gene copy number each cycle:
In principle: primers initiate copying of new DNA from the old (template) DNA,
using the polymerase & the ACGT building blocks
2 4 8 16 32 64 etc.:
10 cycles 1,000 copies, 20 cycles 1,000,000 copies, 30 cycles (~3 hrs) 109 copies
[click here for an animation of PCR]
Amplified DNA can be visualized by gel electrophoresis
Analysis of amplified DNA has forensic / scientific applications
Example 1: Restriction Map Analysis
Example 2: Gender determination in birds
PCR makes sufficient quantities of purified genes for direct analysis by ...
DNA sequencing [Nobel Prize 1980]
automated DNA sequencing uses laser fluorometry
modified ACGTs are attached to fluorescent dyes (A C G T)
color-coded bases are incorporated into DNA during in vitro replication reaction
scanning laser & photometer "see" fluorescence colours
computer assembles four colours, "calls sequence"
[click here for an animation of automated DNA sequencing ;
"Helix & Primer" DNA sequencing service does this locally
DNA sequences may provide evidence in criminal proceedings:
Same gene has different sequences in different species
Challenging the "My brother slaughtered a steer" defence
Species identification in deer , seals, or tuna poaching.
Different individuals have different sequences in same species (e.g. humans)
Example: Differentiation of all ABO genotypes is now possible at DNA level.
Four variants of O, two of B, one of A => 28 genotypes in Europeans.
(Johnson & Hopkinson 1992)
Positive identification of indivduals will probably require ...
DNA Fingerprinting
Determination of individual-specific gene patterns
a "fingerprint" cf. dermatoglyphics
VNTR loci (Variable Number of Tandem Repeats) [aka mini- & microsatellites]
short DNA sequence motifs repeated several times in one place
GCGCGCGCGCGC (6-fold repeat)
versus GCGCGC (3-fold repeat)
Copy number mutates rapidly, even between parents & children
VNTR loci are highly polymorphic (many different alleles)
=> good markers for within-population studies
Example: maternity testing in birds
VNTR Fingerprint examines multiple loci simultaneously
5 ~ 10 VNTR loci usually provide probabilites < 1 / 10 billion
if band pattern at each of 5 loci has p = 0.01,
joint probability = (0.01)5 = 10-10
2006-07-12 21:57:08
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answer #1
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answered by ~Untold Wisdom~ 4
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Probably given the wrong blood type. There are several factors to blood type - whether it is A, B, AB or O and positive or negative. That is why they used to do blood tests before a couple got married, to make sure that they could have a child with no adverse effects.
"Serious reactions can occur if a person is exposed to blood of a different blood type. In blood transfusion, mismatches involving minor antigens or weak antibodies may only lead to minor problems; however, more serious incompatabilities can lead to a more vigorous immune response with massive RBC destruction, low blood pressure, and even death."
2006-07-12 06:47:41
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answer #2
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answered by TMH 4
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It when the wrong blood type a person gets and people can die from it. There is a video if you would like more information called "Patients Rights and Needs" put out by the Watchtower Society. They interview non witness medical professionals about blood. The majority of healthcare professionals will refuse a blood transfusion and one of major reasons stated is Mismatching.
2006-07-12 08:02:32
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answer #3
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answered by Anonymous
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Mismatching is the blood type. By having two blood types that are not the same, one blood type starts to identify the other as an intruder or something that could make you unhealthy and combats it. It is like your body is at war with itself. The other bloodtype is like a disease, and your blood type is fighting it off. It is not pleasent or healthy, and very difficult to cure.
2006-07-12 06:45:33
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answer #4
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answered by Elizabeth 4
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in ur body there is a highly sensitive mechanism called IMMUNE SYSTEM that functions to protect u against harmful substances be them from out side or within ur body
a mismatched blood will b immideialteliy regected by the body ,it will treat it as an enemy,and will try to get rid of it in all possible waye.g profuse bleeding, low blod pressure skin rash etc etc
the components of the immune system will try to kill the donor blood cells
BUT WAT IS MISM ATCH? athere r 4 main types of blood groups:A,B,O ,AB and there are futher divided into +ve and-ve.now if a person with o -ve blood type is given a blood of ab_ve or any other group besides its own is called aMISMATCH
good luck next time
2006-07-12 07:00:34
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answer #5
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answered by rafia m 1
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you got your facts wrong. I've seen a tv show on negative view of Israel and found that most muslim have 99% negative view of Israel with Egypt and Jordan 98% & 97% negative view. This polls were by no means scientific! but do reflect negative thinking against Israel. BTW the same people who did the poll asked the same questions about their view regarding USA, and most of the % were also negative (altough not 90% negative approval rate). In addition they asked a few questions about USA involvment in Kosovo Wars and most surveyed people said USA fought against the Muslims. So here you have it! A scientific study was done on anti-semitism and they found that there is inverse correlation between anti-semitism and level of educational attaintmane - i'll try to find that study .... "In general, opinion seems to divide along the traditional fault lines of international politics. Israel is viewed most negatively in the Muslim countries of the Middle East, although also in Europe. Iran is viewed most positively in the Muslim world." I hope that this quote answers your question.
2016-03-27 02:37:33
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answer #6
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answered by ? 4
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Incompatiable blood matching.
For instance...
The patient is A- and the hospital gives him B+ blood.
Total mismatch.
Your body will actually fight the blood because it sees it as a foreign body and your systems will start to shutdown because in essence, the blood in your body is being killed.
2006-07-12 13:44:48
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answer #7
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answered by PrincipessaLHO 4
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If you receive a blood type that is not compatible, your body sees it as an invasion, and sets about attacking the blood cells, and it can kill you.
2006-07-12 06:44:33
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answer #8
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answered by Bradly S 5
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