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MOLECULAR BIOLOGY > FINALS LEC: DNA POLYMORPHISM & HUMAN IDENTIFICATION > Flashcards

FINALS LEC: DNA POLYMORPHISM & HUMAN IDENTIFICATION Flashcards

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1
Q

Variations of DNA sequences (ranging from a single base pair to thousands of base pairs) that are shared by 1%-2% or more of a given population

A

POLYMORPHISM

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2
Q

Highly repeated sequences (6-8kbp in length), containing RNA polymerase promoters & open reading frames

A

Long interspersed nucleotide elements (LINES)

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3
Q

Highly repeated sequences approximately 0.3 kbp in length, including Alu elements

A

Short interspersed nucleotide elements (SINES)

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4
Q

Head-to-tail repeats of DNA sequences with <10-bp repeat units

A

Short tandem repeats (STRs)

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5
Q

Head-to-tail repeats in DNA with 10-50-bp repeat units

A

Variable-number tandem repeats (VNTRs)

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6
Q

A sequence variation that results in creating, destroying, or moving a restriction site

A

Restriction fragment length polymorphisms (RFLPs)

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7
Q

are A.K.A. mobile elements/transposable elements/transposons

A

LINES & SINES

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8
Q

is used to form patterns by breaking down DNA

A

RFLP

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9
Q

Differences in sizes & number of fragments generated by restriction enzyme digestion of DNA

A

Restriction Fragment Length Polymorphisms (RFLPs)

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10
Q

RFLP typing in humans required the use of ____

A

Southern blot technique

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11
Q

Only the fragments with complementary sequences to a probe to the B region (top) can be visualized
>2,000 RFLP loci have been described in human DNA

A

Restriction Fragment Length Polymorphisms (RFLPs)

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12
Q

The uniqueness of the collection of
polymorphisms in each individual is the basis for human ID at the DNA level. t or f?

A

true

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13
Q

RFLP protocols for human ID:
▪ Sources of genomic DNA:

A

blood, saliva, or tissue

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14
Q

RFLP protocols for human ID:

North American Labs:

A

HaeIII restriction enzyme

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15
Q

RFLP protocols for human ID:

European labs:

A

HinfI restriction enzyme

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16
Q

Regulation of results from independent labs:

A

Standard Reference Material (SRM) DNA Profiling Standard for RFLP analysis (1992)

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17
Q

Polymorphisms can be used as landmarks/markers in the genome to determine the location of other genes

A

Genetic Mapping with RFLPs

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18
Q

More frequently a particular polymorphism is present in
persons with a disease phenotype = more likely an affected gene is located close to the polymorphism

A

Genetic Mapping with RFLPs

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19
Q

Inherited breast cancer:

A

RFLP location
BRCA1 gene

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20
Q

RFLP location:

A

17q21

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21
Q

BRCA1 gene:

A

mapped to this position

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22
Q

Fragment sizes of an individual are a combination of those from each parent

A

RFLP & PARENTAGE TESTING

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23
Q

alleles/fragment sizes of the child & the mother are analyzed

A

Paternity test

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24
Q

provide the remaining alleles/fragments (inclusion)

A

Alleged fathers (AFs)

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25
Q

1st genetic tool for human ID:

A

ABO blood group antigens

26
Q

1st human DNA profiling/fingerprinting system:

A

UK Forensic Science Service (1985) using Sir Alec Jeffrey’s Southern blot multiple-locus probe (MLP)RFLP system

27
Q

Single-locus probe (SLP) (1990) in Europe & N. America

A

HUMAN ID USING RFLPs

28
Q

Requires 0.7% gels

A

HUMAN ID USING RFLPs

29
Q

RFLP Southern blot technique:

A

100 ng to 1 ug of DNA (1-20 kbp)

30
Q

HUMAN ID USING RFLPs
Results:

A

5-7 days

31
Q

Head-to-tail repeats of DNA sequences with <10-bp repeat units

A

Short Tandem Repeats (STRs)

32
Q

Detection Method of Short Tandem Repeats (STRs)

A

PCR

33
Q

used to determine the no. of repeats in the locus by the size of the amplicons

A

Allelic ladders

34
Q

Specimen required for Short Tandem Repeats (STRs):

A

10 ng (key factor for forensic analysis

35
Q

Analysis of Short Tandem Repeats (STRs):

A

Fluorescent detection systems (capillary electrophoresis)

36
Q

Analysis time of Short Tandem Repeats (STRs):

A

24-48 hours

37
Q

(microsatellites or simple sequence repeats) are short tandemly repeated DNA sequences of 1-6 bp in a DNA sequence

A

Short tandem repeat

38
Q

is a sequence of two or more DNA bases that is repeated many times in a head-to-tail manner on a chromosome.

A

tandem repeat

39
Q

STR within genes:

A

according to gene name

40
Q

intron 1 of human tyrosine hydroxylase gene on chromosome 11

A

TH01

41
Q

lintron 10 of human thyroid peroxidase gene on chromosome 2

A

TPOX

42
Q

test subject is the father/not

A

Paternity test

43
Q

likelihood of paternity

A

Paternity index

44
Q

summarizes & evaluates the genotype information

A

Combined paternity index (CPI)

45
Q

CPI = 5.719 x 8.932 x 15.41 x 10.22 = 8,044.931

A

Indicate that the child is 8,045x more likely to have inherited the 4 observed alleles from the AF than from another man

46
Q

5 STR & Sibling Tests

A

Full-sibling test
Half-sibling test
Kinship index/sibling index/combined sibling index
Avuncular testing
Probability of relatedness

47
Q

likelihood that 2 people tested share a common mother & father

A

Full-sibling test

48
Q

likelihood that 2 people tested share 1 common parent

A

Half-sibling test

49
Q

likelihood ratio

A

Kinship index/sibling index/combined sibling index

50
Q

2 alleged relatives are related as either an aunt/uncle of a niece/nephew

A

Avuncular testing

51
Q

based on the no. of shared alleles between the tested individuals

A

Probability of relatedness

52
Q

▪ STR located on the Y chromosome, paternally related men share all Y loci
▪ Represented only once per genome & only in males
▪ Applications: forensic, lineage, population studies, kinship testing

A

Y-STR

53
Q

2 or more males have a common paternal ancestors

A

Y-STR/paternal lineage test

54
Q

group of males having the same surnames is expected to be related to a common male ancestor, sharing the same Y-chromosome alleles

A

Surname test

55
Q

Single-nucleotide differences (1-bp)

A

Single-Nucleotide Polymorphisms (SNPs)

56
Q

human nucleotide sequence differs every 1,000-1,500 bases from 1 individual to another

A

HGP

57
Q

2 haploid genomes differ at 1 nucleotide per 1,331 bp ❖ 11 million sites in genome of 3 billion bp that vary in at least 1% of the world’s population = 11 million SNPs in each individuals

A

International SNP Map Working Group

58
Q

▪ Genetic mapping, disease production, and human ID
▪ Detection: direct sequencing
▪ Approx. 10 millions SNPs have been identified (99% have no biological effects; over 60,000 within genes; some are associated with disease)
▪ Classification: according to location, relation to coding sequences, & whether they cause a conservative/nonconservative sequence alteration

A

SNPs

59
Q

Contribute to individual differences in function & susceptibility to various diseases such as Parkinson disease, Alzheimer disease, bipolar disorder, & cancer

A

MITOCHONDRIAL DNA POLYMORPHISMS

60
Q

Amino acid variations

A

PROTEIN BASED ID

61
Q

• Epigenetic alterations (DNA methylation)
• Result of environmental events: Profile is unique = no 2 individuals will have the same environmental exposures

A

EPIGENETIC PROFILES

MOLECULAR BIOLOGY (9 decks)

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