intro to forensic genetics Flashcards

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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
Q
• described the ABO blood 
grouping systems and observed 
that individuals could be placed 
into different groups based on 
their blood type
A

1901 - Karl Landsteiner

26
Q

• published a book describing the
use of ABO typing to resolve a
paternity case

A

1915 - Leone Lattes

27
Q
• The Rh factor in blood had been 
demonstrated and shortly 
thereafter, numerous blood 
factors or groups were 
discovered
A

1937

28
Q
• 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.
A

1952 - Alfred Hershey and Martha

Chase

29
Q
• 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.
A

1953 - James Watson and Francis

Crick

30
Q

• Developments in molecular biology (restriction enzymes, Sanger
Sequencing, Southern Blotting) allowed scientists to examine the
DNA sequences

A

1960’s – 1970’s

31
Q

• DNA polymorphisms could be detected in Southern Blotting

A

1978

32
Q

• Analysis of the first polymorphic locus was reported

A

1980

33
Q

• conceptualized the PCR process

A

1983 - Kary Mullis

34
Q
• 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

A

1983 - Sir Alec Jeffreys

35
Q

• 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

A

1987

36
Q

• 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

A

1997

37
Q

• 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

A

2002

38
Q
  • a field of biology that studies how traits are passed from parents to
    their offspring.
A

genetics

39
Q
  • The study of the passing of traits from parents to offspring
A

Heredity

40
Q
- One of the most able of the 
early scientists who studied 
inheritance
- known as the "father of 
modern genetics",
A

Gregor Mendel

41
Q
  • 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.”
A

Mendel’s Law of Dominance

42
Q
  • 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.
A

Mendel’s Law of Dominance

43
Q
  • 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.

A

Law of Segregation

44
Q

For the F2 generation of a monohybrid cross, the following three
possible combinations of genotypes could result:
- homozygous dominant
- Heterozygous
- homozygous recessive.

A

Law of Segregation

45
Q
  • This law states that allele pairs separate independently during the
    formation of gametes.
  • Therefore, traits are transmitted to offspring independently of one
    another.
A

Law of Independent Assortment

46
Q

Characteristics are not inherited but it is the genetic information
required to produce the characteristics that is inherited in the form of
DNA

A

General Rule of Inheritance

47
Q

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

A

How genes are transmitted

48
Q

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

A

How genes are transmitted

49
Q

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.

A

nucleus

50
Q

do not have nucleus

they have no nuclear DNA
(nDNA).

A

mature red blood cells

51
Q
membrane-bound 
cell organelles (mitochondrion, 
singular) that generate most of the 
chemical energy needed to power the 
cell's biochemical reactions
A

mitochondria

52
Q
  • 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
A

gene

53
Q

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

A

gene

54
Q

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.

A

genome

55
Q

threadlike bodies that appear in the

nucleus of every body cell

A

chromosome

56
Q
  • 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
A

autosome

57
Q

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

A

telomere

58
Q

are shortened each round of cell replication.

A

Somatic human cells

59
Q
  • As the somatic cells reach their limit, they will enter
A

senescence

60
Q

is one of two or more versions of a gene.

A

allele

61
Q
  • 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.
A

true

62
Q

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

A

locus