intro to forensic genetics Flashcards

1
Q

Branch of genetics
Branch of forensic medicine
It is an interdisciplinary science

A

Forensic Genetics

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2
Q
Disputes on kinship 
(e.g. paternity testing)
• Corpse identification
• Missing person investigation 
• Mass-fatality identification 
(e.g. terrorist attacks, airplane 
crash, tsunami disaster, war 
crimes)
A

Forensic Genetics

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3
Q

one of the alternative form of a genetic

marker, component / DNA type

A

allele

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4
Q

the process of artificially
increasing the amount of DNA in a
sample

A

amplification

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5
Q

a fundamental unit of double-
stranded nucleic acids consisting of
two nucleobases bound to each
other by hydrogen bonds

A

base pair

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6
Q

the building block unit of DNA
(Adenine – Thymine; Guanine –
Cytosine)

A

base pair

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7
Q

a rule of evidence regarding the admissibility of expert witness
testimony.
- This is the standard used by a trial judge to assess whether an expert
witness’s scientific testimony is based on scientifically valid reasoning
that which can properly be applied to the facts at issue.

A

daubert standard

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8
Q

– legal standard for admissibility of new scientific techniques used in
the examination of evidence in some US states
- a test to determine the admissibility of scientific evidence.
- It provides that expert opinion based on a scientific technique is
admissible only where the technique is generally accepted as reliable
in the relevant scientific community.

A

frye standard

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9
Q

partially destroyed DNA, usually
indicated by lower or absent
amounts of longer DNA
components

A

degraded dna

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10
Q

– movement of chemical through a matrix under the force of

electrical field

A

ELECTROPHORESIS

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11
Q

– (in DNA) the removal of DNA from cells

A

EXTRACTION

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12
Q

– genetic composition of an individual comprising both alleles at
each / all loci

A

genotype

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13
Q

possessing only one allele at each locus

A

haploid

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14
Q

only one allele component present at a locus

A

hemizygous

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15
Q

two alleles at one locus are different types

A

heterozygous

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16
Q

two alleles at one locus are the same type

A

homozygous

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17
Q

specific location / entity of DNA (marker or gene) on a

chromosome, area of DNA tested in profile

A

locus/loci

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18
Q

alteration in genetic component

A

mutation

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19
Q

expressed/observed biological characteristic controlled by

combination of alleles in genotype

A

phenotype

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20
Q
  • many forms

- genetic variations

A

POLYMORPHIC

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21
Q

chemical that binds to specific site (locus) of sample DNA to
enable amplification in PCR

A

primer

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22
Q

1860s

he iidentified the DNA molecule
which he called then “nuclein”

A

Johann Friedrich Miescher

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23
Q
German biochemist
• Identified the nuclein as a 
nucleic acid and provided its 
present chemical name, 
deoxyribonucleic acid (DNA)
A

1881 - Albrecht Kossel

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24
Q
- isolated the five nucleotide 
bases that are the building blocks 
of DNA and RNA: 
- Adenine
- Cytosine
- Guanine
- Thymine
- Uracil
A

Albrecht Kossel

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25
``` • described the ABO blood grouping systems and observed that individuals could be placed into different groups based on their blood type ```
1901 - Karl Landsteiner
26
• published a book describing the use of ABO typing to resolve a paternity case
1915 - Leone Lattes
27
``` • The Rh factor in blood had been demonstrated and shortly thereafter, numerous blood factors or groups were discovered ```
1937
28
``` • proved that DNA is a genetic material carrying at least some of the blueprint of life • performed their experiments, later named the Hershey-Chase experiments, on viruses that infect bacteria, also called bacteriophages. ```
1952 - Alfred Hershey and Martha | Chase
29
``` • discovered the structure of DNA which they described as a twisted ladder or double-helix • the first to make helical models with the center of the helices being the phosphates. ```
1953 - James Watson and Francis | Crick
30
• Developments in molecular biology (restriction enzymes, Sanger Sequencing, Southern Blotting) allowed scientists to examine the DNA sequences
1960’s – 1970’s
31
• DNA polymorphisms could be detected in Southern Blotting
1978
32
• Analysis of the first polymorphic locus was reported
1980
33
• conceptualized the PCR process
1983 - Kary Mullis
34
``` • discovered the individual – specific banding patterns after restriction fragment length polymorphism (RFLP) analysis of repeated DNA sequences ``` this is the birth of DNA fingerprinting which was first used in the Colin Pitchfork Case
1983 - Sir Alec Jeffreys
35
• The admissibility of DNA evidence was seriously challenged in USA – People v. Castro – and have resulted in the increased levels of standardization and quality control in forensic genetics and other areas of forensic science
1987
36
• In a Philippine case, Pe Lim vs CA, the Supreme Court acknowledged the probability of DNA as evidence but has not officially recognized it as admissible evidence
1997
37
• In People vs Vallejo, the SC has recognized DNA as evidence and set the Vallejo Doctrine which is the basis in assessing the probative value of DNA evidence
2002
38
- a field of biology that studies how traits are passed from parents to their offspring.
genetics
39
- The study of the passing of traits from parents to offspring
Heredity
40
``` - One of the most able of the early scientists who studied inheritance - known as the "father of modern genetics", ```
Gregor Mendel
41
- known as the first law of inheritance. - Each character is controlled by distinct units called factors, which occur in pairs. If the pairs are heterozygous, one will always dominate the other. - “When parents with pure, contrasting traits are crossed together, only one form of trait appears in the next generation.”
Mendel’s Law of Dominance
42
- explains that in a monohybrid cross between a pair of contrasting traits, only one parental character will be expressed in the F1 generation and both parental characters will be expressed in the F2 generation in the ratio 3:1.
Mendel’s Law of Dominance
43
- the second law of inheritance. - The law of segregation states that each individual that is a diploid has a pair of alleles (copy) for a particular trait. - Each parent passes an allele at random to their offspring resulting in a diploid organism. The allele that contains the dominant trait determines the phenotype of the offspring. - In essence, the law states that copies of genes separate or segregate so that each gamete receives only one allele.
Law of Segregation
44
For the F2 generation of a monohybrid cross, the following three possible combinations of genotypes could result: - homozygous dominant - Heterozygous - homozygous recessive.
Law of Segregation
45
- This law states that allele pairs separate independently during the formation of gametes. - Therefore, traits are transmitted to offspring independently of one another.
Law of Independent Assortment
46
Characteristics are not inherited but it is the genetic information required to produce the characteristics that is inherited in the form of DNA
General Rule of Inheritance
47
Both parents produce gametes (sperm for the father and egg cell for the mother) through the process of meiosis. These gametes contain half (23) of the parent’s chromosomes. • When the egg and the sperm unite at fertilization, a new, unique individual is created
How genes are transmitted
48
The new individual will now have 46 chromosomes (23 pairs); for each chromosome, one is inherited from the mother and one from the father. • Following Mendel’s Law of Dominance, different form of genes (alleles) for a certain trait will express a phenotype based from the dominant gene
How genes are transmitted
49
This part of the cell contains chromosomes that have the Nuclear DNA nuclear DNA can only be found in nucleated cells such as: skin cells, spermatozoa, white blood cells and young red blood cells.
nucleus
50
do not have nucleus they have no nuclear DNA (nDNA).
mature red blood cells
51
``` membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions ```
mitochondria
52
- the basic unit of heredity that controls the development of specific characteristics in the new individual - determines the nature and growth of virtually every body structure
gene
53
Specific segments of DNA that control cell structure and function; the functional units of inheritance. - Sequence of DNA bases that usually code for a polypeptide sequence of amino acids. - Coding region of DNA
gene
54
The set of genes carried by an individual; the set of genes shared by members of a reproductive unit such as a population or species.
genome
55
threadlike bodies that appear in the | nucleus of every body cell
chromosome
56
- Chromosomes other than the sex chromosomes (XX / XY) - Under normal circumstances, each chromosome follows a “map” that is shared across individuals in the species. - This allows cells to “know” where to start gene expression when they want to express a certain gene
autosome
57
is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes
telomere
58
are shortened each round of cell replication.
Somatic human cells
59
- As the somatic cells reach their limit, they will enter
senescence
60
is one of two or more versions of a gene.
allele
61
- An individual inherits two alleles for each gene, one from each parent. - Genes that govern a given characteristic are similarly positioned on the chromosomes inherited from the mother and father.
true
62
A spot or “address” on a chromosome at which a gene for a particular trait is located in all members of a species. location of a mutation or other genetic marker
locus