Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Growth and Development > Basic genetics in relation to DNA > Flashcards

Basic genetics in relation to DNA Flashcards

1
Q

Betathalacaemia

A

Chemical surgery has been performed on human embryos to remove disease
World first

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Uses of genetics

A

Paternity tests, even for dogs
DNA gifts
DNA picture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Costs of sequencing genome

A

Dropped dramatically, now can sequence in under a day

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Head and neck cancer genome sequence

A

21% have specific genetic mutation that could be targeted

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

GeneSight

A

Tests to see if you are going to react well to depressive/ anxiety/ bipolar medications. Will it help you?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

23andMe

A

Saliva based service
Inherited conditions, drug responses, Genetic Risk Factors, traits
e.g. familial dysautonomia
A lot of money for stupid tests, not very effective –> came into trouble, went into ancestry

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is familial dysautonomia?

A

Affects development and survival of certain nerve cells

Disorder disturbs cells in ANS, which controls involuntary actions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Personalised genetic testing and teeth

A

Not engaged enough yet
PerioPredict - can test if you have risk factors for periodontal disease
Overproduction of interleukin 1 gives heightened inflammatory response in presence of bacterial plaque

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Cons of PerioPredict

A

Have to have it to get Dental Insurance in US, dangerous

  • basis for whether you have 1 or 2 visits to dentist per year
  • dangerous: periodontitis not just related to IL-1, including lifestyle choices
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Who was DNA fingerprinting invented by

A

Alec Jeffreys (Leicester) 198

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

DNA fingerprinting relies on

A

Variable number of tandem repeats (VNTRs) - 30-40% of non-coding region

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

DNA fingerprinting gene

A

Myoglobin gene - segments in introns with no apparent function, vary in size and composition between individuals

  • initially called mini-satellites as surround the exon
  • repeating nucleotides (15-100) 1kb - 20kb (no inherited from parents)
  • large variation of number of these regions between individuals
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does DNA fingerprinting work

A

Repeat regions usually bounded by specific restriction enzyme sites
Restriction enzymes - DNA-cutting enzymes (from bacteria)
Cut at specific sequences so gap would be created (ECOR1 one of first restriction enzymes identified)
Run DNA out onto gel - restriction digestion
Gel electrophoresis separates fragments left behind by size

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

PCR

A

DNA amplification

  • measuring transcription of gene
  • starting material is DNA rather than mRNA
  • reverse transcription: use RNA to make cDNA and then use polymerase chain reaction to make many copies of specific piece of DNA (then you can detect it)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

PCR history

A

1955 with discovery of first DNA polymerase
1985 Kary Mullis developed polymerase reaction in Taq
DNA likes to stick to DNA and RNA, RNA likes to stick to DNA and RNA (annealing after denaturation)
Then elongate at 72 degrees
Called hybridisation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Amplification

A

Is exponential, wanted gene can make 68 billion copies in 36 cycles
Need enzyme that works at 72 degrees

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Amplify sequences

A

HE4 expression in AL1 cells require continued retinoic acid mediated differentiation
-Ethidium bromide example of gene expression being associated with phenotype of cell

18
Q

Problems with standard reverse transcription PCR

A
  • poor precision
  • lower sensitivity
  • slow dynamic range <2 logs
  • non-automated
  • size-based discrimination only
  • results not expressed as numbers
  • Ethidium bromide staining is not very quantitative
19
Q

Real-time PCR

A

Automated method
Allows detection of PCR amplification during early phases of reaction, kinetics of reaction not end-point
Exponential phase is optimal point for analysing data

20
Q

Advantages of real-time PCR

A

-traditional measure at end-point and real-time collects data in exponential growth phase
-> reporter fluorescence directly proportional to no of amplicons generated
-> dynamic range of detection
no post-PCR processing
-detection down to 2-fold change

21
Q

Next generation sequencing

A

Massive parallel sequencing - sequence hundreds of millions of DNA molecules simultaneously
-single NGS run can sequence human genome approx. 37x in 27 hours
Important for personalised medicine

22
Q

Proteomics

A

Large scale study of proteins, particularly their structures and functions, includes post-translational modifications
-better because not all genes are translated into proteins?

23
Q

Saliva

A

New blood test?
-tests health and wellness, detects oral and systemic illnesses early
Non-invasive

24
Q

Single nucleotide polymorphism (SNP)

A

DNA sequence variations when single nucleotide sequence is altered
Must occur in a least 1% of pop., 90% of all genetic variation
Occur every 100-300 bases, 2 out of 3 involve C to T

25
Q

SNP and alleles

A

Synonymous SNPs have different alleles that encode for same a.a.
Non-synonymous SNPs re SNPs that have different alleles that encode diff amino acids

26
Q

Effect of SNPs on cell function

A

Many have no effect on cell function, others predispose to disease, influence response to drugs to environmental insults

27
Q

VNTR

A

Variable Number of Tandem Repeats
Number of repeated segments varies between people
Some only found at single locus, some found at many loci

28
Q

Polymerase chain reaction

A

30-40 cycles of 3 steps

  1. denaturation (1 min 94 degrees C)
  2. annealing (45s 54 degrees C)
    - forward and reverse primers
  3. extension (2mins 72 degrees)
    - only dNTPs
29
Q

Optimum point for analysing data in real-time PCR

A

Exponential phase
If diff amounts of DNA in starting sampe and if measurements taken at plateau the data would not truly represent the starting material
Real-time PCR detects accumulation of amplicon during reaction

30
Q

Taqman probe reaction

A

Piece of DNA with 2 fluorescent tags
Taqman probe and primer bind to target DNA, reporter dye released from extending double-stranded DNA
Reporter dye now distant to quencher so will give off signal (fluoresce)
Signal passes to specific software for analysis
Requires specific probe to bind to a specific sequence

31
Q

SYBR Green Dye

A

Binds to any double stranded DNA

Burst of light as DNA is denatured and SYBR Green Dye floats free

32
Q

Hybridisation

A

Localisation technique for detection of gene product (RNA) in tissues
Another way to investigate cell-type and tissue specific gene expression

33
Q

Plunc expression (postnatal mouse)

A

Found by hybridisation
Restricted to epithelial layers of trachea and main bronchial passages
Expressed in regions of nasopharynx

34
Q

Transfection

A

‘Transformation’ + ‘infection’

  • infection of cells by isolated nucleic acid from virus, resulting in production of complete virus
  • process whereby the nucleic acid sequences are intertroduced by either biochemical or physical processes
  • stable or transient transfection
35
Q

Why do we want to transfect cells?

A

Protein production for clinical or research applications
Change protein expression profile of cell to assay for effects of gene
-overexpression of gene
-RNAi (reduction in expression of gene)
Addition of genetic markers to cell line

36
Q

Genomics

A

Recombinant DNA, DNA sequencing methods, and bioinformatics

Used to sequence, assemble, and analyse function and structure of genomes

37
Q

Transcriptomics

A

Genome-wide RNA transcript expression levels

38
Q

Metabolomics

A

Comprehensive characterisation of small molecular metabolites in biological systems
Overview of metabolic status & global biochemical events assosiated with cellular or biological system
-can depict both steady-state physiological state of cell or organism & also dynamic responses to genetic or environmental factors

39
Q

Salivomics

A

Ability to monitor health & wellness, as well as detect oral & systemic illnesses early through noninvasive means
Use saliva to detect and monitor systemic diseases

40
Q

Human microbiome

A

Properties of microbiota or normal flora difficult to study as not always possible to ‘grow’ bacteria in lab and then ‘type’.

41
Q

Metagenome

A

Biology and medical significance of human microbiome and its collective genes

42
Q

Genome-wide association studies

A

Rapid scanning of complete sets of DNA (or genomes) of many people to find genetic variations associated with particular disease e.g. Human Genome Project

Growth and Development (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions