genetic methods Flashcards

1
Q

what is genetic research?

A
  • study of heredity
  • how traits are passed from generation to generation
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2
Q

define genotype

A
  • underlying biological makeup
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3
Q

define phenotype

A
  • observable traits
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4
Q

who is Gregor Mendel?

A
  • cited to be the first geneticist
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5
Q

define dominant

A
  • traits that only require one allele to be expressed
  • these will be the organisms phenotype
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6
Q

define recessive

A
  • requires two alleles to be expressed
  • only expressed when there is no dominant trait
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7
Q

define allele

A
  • version of a gene
  • either dominant or recessive
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8
Q

what 2 fundamental laws does Mendelian inheritance rely on?

A

1/ segregation
- traits either dominant or recessive

2/ independence
- varieties of each trait sort independently of each other

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9
Q

where is DNA found?

A
  • nucleus
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10
Q

what is DNA composed of?

A
  • 2 chains of nucleotides
  • these coil around each other
  • forms double helix
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11
Q

what does the double helix contain?

A
  • genetic instructions for development, functioning, growth, reproduction of all known biological organisms
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12
Q

how are protein strands made?

A
  • double helix = unzipped
  • read by RNA molecules
  • process = translation
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13
Q

what are the 4 bases?

A

Adenine
Guanine
Cytosine
Thymine

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14
Q

define chromatids

A
  • long strand of DNA
  • found in nucleus
  • coil during cell division to form chromosome
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15
Q

describe what happens to chromatids during cell division
(DNA to chromosome)

A
  • chromatids undergo condensation
  • coil together
  • forming chromosome
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16
Q

how many chromosome in a typical human?

A

46 (23 pairs)

17
Q

what are all pairs of chromosome aside from one?

A
  • all are XX
  • final pair varies
18
Q

what does the final pair of chromosomes code for?

A
  • biological sex
  • either XX or XY
19
Q

define gene

A
  • describes single strand of functional DNA on a chromosome
20
Q

how many genes do humans possess?

A

between 20,000 to 25,000

21
Q

define genome

A

a collection of genes

22
Q

define pleiotropic

A
  • where phenotypic traits = programmed by single gene
23
Q

define polygenic

A
  • where phenotypic traits = influenced by combination of genes
24
Q

why study genetics?

A
  • help understand genetic disorders
  • greater understanding of biology
25
Q

what are X-linked genes

A
  • where some recessive traits more commonly expressed in males compared to females
  • due to males not having a dominant allele on their (much shorter) Y chromosome
26
Q

what are sporadic mutations?

A
  • occurs as a result of errors in typical cell division
  • mutations happen naturally
  • or mutations happen as result of environmental factors (e.g.: radiation)
27
Q

what are polygenic traits?

A
  • traits that rely on coding from multiple genes
  • may not follow Mendelian rules
  • many genetic disorders considered to be polygenic in nature
28
Q

give examples of X-linked genetic disorders

A
  • colourblindness
  • Turner Syndrome (effect females with only one X chromosome)
  • Klinefelter Syndrome (effects males with additional X chromosome)
  • Fragile X syndrome
29
Q

give example of genetic disorder that occurs due to sporadic mutation

A

Down’s Syndrome
- extra chromosome
(due to errors in segregation of alleles)

Williams Syndrome
- due to micro-deletion on chromosome 7

30
Q

give example of genetic disorder that occurs due to polygenic traits

A

schizophrenia
- not a single gene causes this
- but individual considered to be genetically predisposed to develop this (may have trait but not show signs of it)
- has clear genetic link

31
Q

how have genetic conditions been studied?

A
  • twin studies
  • monozygotic twins = twins from same egg, 100% share DNA (genetically identical)
  • dizygotic twins = twins from separate egg, 50% DNA
32
Q

what are genomic studies?

A
  • inspects genome of specific groups
  • help identify allele commonalities (looking at what is consistent across them)
33
Q

what are targeted mutations?

A
  • mutated lab produced genes inserted into chromosomes
  • there are two types
34
Q

what are the two types of mutated lab produced genes that are inserted into chromosomes?

A
  • knockout genes
  • knock-in genes
35
Q

what are knockout genes?

A
  • mutated lab produced genes that fail to produce specific functional protein
36
Q

what are knock-in genes?

A
  • mutated lab produced genes that can produce specific functional protein
37
Q

what is genetic engineering?

A
  • where we can edit our own genome
  • currently being used to tackle HIV and cancer