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3702 > Biomarkers- Genetics > Flashcards

Biomarkers- Genetics Flashcards

1
Q

Definition of a gene

A

Region of DNA that contains all of the information required to produce a functional protein or RNA

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2
Q

Definition of gene locus

A

The unique position of a gene on the chromosome

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3
Q

Definition of genome

A

All the genetic material (DNA) of an organism

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4
Q

Definition of genotype

A

The genetic constitution of a genome or individual locus

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5
Q

Definition of phenotype

A

The expressed features of the genome as a result of the interaction between the genotype and environment

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6
Q

Definition of genetics

A

The study of single genes and their effects

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7
Q

Definition of genomics

A

The study of all the genes in the genome how they interact and their interactions with environmental factors

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8
Q

Definition of epigenetics

A

The study of reversible, heritable mechanisms that influence gene expression without changing the DNA sequence

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9
Q

Definition of wildtype

A

The most common form of the gene within a population

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10
Q

Definition of allele

A

Alternative form (version) of a gene which has one or more differences in its nucleotide sequence

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11
Q

Definition of biallelic

A

Genes have two alleles

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12
Q

Definition of polyallelic

A

Genes have multiple alleles

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13
Q

Definition of homozygous

A

When copies of the gene (alleles) on each pair of a homologous chromosome are identical

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14
Q

Definition of heterozygous

A

When copies of a gene (alleles) on each pair of homologous chromosomes are different

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15
Q

What is co-dominance in blood groups

A

When both A and B are expressed because they are dominant

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16
Q

What enzyme is A blood

A

Transferase A

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17
Q

What enzyme is B blood

A

Transferase eB

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18
Q

What enzyme is O blood

A

Inactive transferase

19
Q

What blood can AB blood types receive

A

A, B and O

20
Q

Who can receive O blood

A

Anyone

21
Q

What is incomplete dominance

A

When both alleles are expressed but one allele has more effect than the other
eg. T = straight hair and t = curly hair
Tt= wavy hair

22
Q

What is polymorphism

A

A difference in DNA of equal or greater to 1% in a population

23
Q

Definition of mutation

A

A difference in DNA that is associated with disease

24
Q

Definition of haplotype

A

A set of DNA variations or group of alleles that are inherited together

25
Q

What are germline cells

A

Cells that contain and transmit genetic information from generation to generation

26
Q

What are somatic cells

A

All cells other than germline cells

27
Q

Why are offspring genetically different from parents in humans

A

Independent assortment of homologous pairs of chromosomes during meiosis

27
Q

Why are offspring genetically different from parents

A
  1. Independent assortment of homologous pairs of chromosomes during meiosis
  2. Random fertilisation
28
Q

How does crossing over allow for genetic difference

A

Homologous chromosomes exchange information by recombination during meiosis

29
Q

How does damaged chromosome ends lead to genetic variation

A

Causes chromosomes to fuse and incorrect separation during meiosis
Leads to gene amplification and loss

30
Q

What are variations in DNA caused by

A

Errors in DNA replication
Damage to DNA caused by the environment

31
Q

When are variations in DNA maintained in the germline DNA

A

They are not harmful
Provide an advantage

32
Q

How do variations have a phenotypic effect

A

They must occur in the regulatory or coding region of a gene

33
Q

How do variations effect the regulatory region of a gene

A

Altered efficiency of:
Transcription
Translation
Splicing

34
Q

How do variations effect the coding region of a gene

A
  1. Alter the amino acid sequence of a protein and its function
  2. Affect the rate of folding of the protein
  3. Have an affect on protein stability
35
Q

What are the 5 types of genetic variation

A
  1. Single nucleotide polymorphism
  2. Base deletion or insertion
  3. Microsatellites
  4. Minisatellites
  5. Copy number variations
36
Q

What causes single nucleotide polymorphism

A

Base substitution in 1 in every 1000 bp

37
Q

What is a synonymous SNP

A

No change to the amino sequence

38
Q

What is a non synonymous- conservative missense SNP

A

Conservative change in the amino acid sequence because the side chains of bases are similar

39
Q

What is a non synonymous- nonconservative missense SNP

A

Nonconservative change in the amino acid sequence because side chains of bases are different

40
Q

What is a non synonymous- nonsense SNP

A

Change in the bases that encodes for a stop codon

41
Q

What is another word for base insertion or deletion

A

Indels

42
Q

How does base insertion occur

A

When strand slippage occurs in newly synthesised DNA, a base is inserted

3702 (7 decks)

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