Neurogenetics Flashcards

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1
Q

what are the 4 bases of DNA

A

Adenine (A)
Thymine (T)
Cytosine (C)
Guanine (G)

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2
Q

what are the two types of cell division? give a brief explanation.

A

mitosis - somatic cells (daughter cells identical to parent cells)
meiosis - gametes (daughter cells contain half the number of chromosomes)

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3
Q

what are transcription factors?

A

a protein that controls the rate of transcription from DNA to mRNA, by binding to a specific DNA sequence. they are activated during development or by intracellular signalling.

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4
Q

when was the DNA structure discovered?

A

1953

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5
Q

how does gene expression occur?

A

the DNA unravels, allowing a transcription factor to bind to the gene

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6
Q

what is translation?

A

the process of translating a DNA sequence from mRNA to a sequence of amino acids. a ribosome attaches to the mRNA and moves along it, reading each triplet codon (3 DNA bases) and using transfer RNA (tRNA) to put together an amino acid chain to make a protein.

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7
Q

describe Mendel’s Law

A

genes have two variants (alleles), different combinations of these alleles can be inherited. some genes are dominant and some are recessive.

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8
Q

what does homozygous mean?

A

that the two alleles inherited are identical

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9
Q

what does heterozygous mean?

A

that the two alleles inherited are not identical

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10
Q

what type of inheritance is Huntington’s disease?

A

dominant inheritance

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11
Q

describe dominant inheritance

A

that just one inherited allele can cause the disease

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12
Q

describe recessive inheritance

A

two of alleles must be inherited in order to cause the disease

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13
Q

for Huntington’s disease, which chromosome is affected?

A

chromosome 4, an excessive repeat of CAG bases

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14
Q

what type of inheritance is Phenylketonuria?

A

recessive

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15
Q

how is phenylketonuria caused?

A

a mutation in the PAH gene

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16
Q

what is monosomy?

A

a chromosomal abnormality which results in a single copy of a chromosome

17
Q

what is trisomy?

A

a chromosomal abnormality which results in 3 copies of a chromosome, can result in down syndrome

18
Q

what are x-linked conditions?

A

a genetic mutation on the x chromosome causes the phenotype to always be expressed in individuals who are homozygous for the gene mutation

19
Q

what is an example of an x-linked condition?

A

Rett Syndrome, caused by a mutation in MeCP2, which turns off the expression of ‘unwanted’ genes during synapse formation

20
Q

what is epigenetics?

A

the study of phenotype changes that do not alter the DNA sequence. the study of how genetics and the environment interact

21
Q

what can affect the phenotype without altering the DNA sequence?

A

development (utero), aging, diet, drugs

22
Q

what is transgenerational epigenetics?

A

epigenetic changes that can be passed down through generations

23
Q

what are Genome Wide Association Studies?

A

used to associate genes with traits or illnesses