Genetics Flashcards

1
Q

Mendel (1872-1884)

A

Dichotomous traits. One form or another never in combination.

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2
Q

What is phenotype?

A

the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.

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3
Q

What is genotype?

A

the genetic constitution of an individual organism.

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4
Q

What is allele?

A

each of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

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5
Q

What is heterozygous and homozygous?

A

When an individual has two of the same allele, whether dominant or recessive, they are homozygous. Heterozygous means having one each of two different alleles.

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6
Q

What do you call the grid of genes?

A

Punnet square

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7
Q

What is autosomal chromosome?

A

Any chromosome that is not sex chromosome.

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8
Q

How many autosomal and sex chromosomes do we have?

A

22 pairs of autosomal chromosome and 1 pair of sex chromosomes.

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9
Q

If a recessive gens is on an autosomal…

A

its effects will be found equally in males and females.

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10
Q

If recessive gene is an x chromosome…

A

It’s effects will be formed more often in males

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11
Q

What are chromosomes made of?

A

DNA

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12
Q

What are the base pairs?

A

Adenine Thymine

Cytosine Guanine

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13
Q

What is the structure of DNA?

A

Alpha helix- good shape allows DNA unwinds so it can replicate- Good because makes new cells or babies
Spare bases bind to complementary bases in unwound strands

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14
Q

What is mitosis?

A

Cell replicate complementary strands of DNA form new chromosomes get twice as many as you started with. Cell splits new cell as DNA you started with. Needed to make new cells or babies.

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15
Q

What is meiosis?

A

In sperm/egg cells end up with cells with one of each chromosome pair DNA still replicates left with sperm or cells when they fuse one pair of chromosome from mum and one from dad - random which pair you have.

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16
Q

What happens when crossing over occurs?

A

Sometimes in meiotic cell crossing over can occur, when chromosome line up a bit of chromosome gets swapped with another bit called chiasma official name recombinant chromatids.

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17
Q

What does DNA make?

A

Proteins

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18
Q

What do genes hold the instructions of? How?

A

To make proteins- Unwinding of the alpha double helix makes complementary strand of single stranded mRNA .
RNA- Ribonucleic acid CGAU into DNA.

19
Q

Describe the process of translation…

A

RNA gets translated into a protein. DNA unwinds mRNA copies DNA in to AGCU single strands mRNA out of the nucleus into the cytoplasm and mRNA gets translated tRNA brings amino acid complementary base pairs on heads specific amino acids. Ribosome reads letters of three calls tRNA and ribosome then builds chain of amino acids - becomes peptide - may become more complex to secondary tertiary structure and become a protein.

20
Q

What chromosome causes down syndrome? What does it cause? What percentage of genes, mRNA and protein (amyloid) does it have?

A

Trisomy chromosome 21 - three copies of it cause downs syndrome. Cognitive deficit. 150% of each.

21
Q

RNA is a complimentary copy of one strand…

A

of a DNA molecule.

22
Q

Briefly state the process of down syndrome in terms of genes..

A

Gene overexpression -> Neuropathology -> Cognitive deficit

23
Q

What gene is involved in Alzheimer’s disease?

A

21 on Amyloid Precursor Protein (APP) there are amyloid plaques that lead to neurofibilary tangles.

24
Q

What is phenylketonuria (PKU)?

A

Autosomal recessive gene
Single mutation
Inability to metabolise phenylalanine (an amino acid)
Results in brain damage
Caused by mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH) rendering it non-functional.
When PAH activity is reduced, phenylalanine accumulate and in converted into phenyl pyruvate.

25
Q

Define heritability and how it’s measured

A

Estimate of how much variance in some characteristic within some population is due to differences in heredity. Varies between 0 and 1 (0.5 is intermediate.)

26
Q

What did Thomas Bouchard do?

A

Studies on heritability in twin studies on personality traits and psychological interests.

27
Q

How is heritability calculated?

A

Comparing the correlation co-efficient of identical and non-identical twins for particular traits.

28
Q

Heritability is ‘specific’ to the…

A

population in which it’s calculated. It looks at variance between individuals.

29
Q

High heritability does not imply that…

A

the environment doesn’t alter that trait.

30
Q

What did Robert Paloma do?

A

Looked at twins across the UK and calculated hereditability of twins across the UK on a website called TED. High heritability does not imply that the environment does not play a role.

31
Q

If a group of individuals share a highly similar environment, what effect does this have on the heritability estimate of a characteristic?

A

Heritability estimate will be high.

32
Q

Thee heritability of general cognitive ability increases…

A

linearly from childhood to young adulthood.

33
Q

Overtime tendency to seek out environments that…

A

increase cognitive ability.

34
Q

What is the multiplier effect (Flynn, 2001)?

A

If genetic or prenatal influences produce even a small increase in some activity, the early tendency will change the environment in a way that magnifies that tendency - explanation for heritability changing over time.

35
Q

Briefly show the Weinberger approach

A

Gene -> Neurophysiology -> cognition

36
Q

Briefly show the process for the gene Tryptophan Hydroxylase

A

Tryptophan -> Tryptophan hydroxylase -> 5 - hydroxyl tryptophan -> aromatic l- amino acid and decarboxylase -> Serotonin 5HT

37
Q

Sometimes mutant form of Tryptophan Hydroxylase gene —

A

rare mutation not applied to all depressed people. In vitro cells with this gene make less serotonin than cells with normal genes.

38
Q

Zheng et al (2005) did what?

A

Studied how many depressed had mutant form of gene 9/87 in depressed group had mutant form of gene 3/219 in control group had mutant form of gene. More prevalent in depressed than control. Subjects with mutant form had anxiety, alcoholism and family history of mental health problems. It’s the case that many people who are depressed don’t necessarily have the mutant form of the gene for tryptophan hydroxylase so other genes and environment may be involved.

39
Q

The serotonin transporter has two forms which are…

A

long and short. Brain overrespond to negative emotions - environment.

40
Q

What does amygdala deal with?

A

Emotions and memory

41
Q

fMRI is different for short gene and

A

normal gene in relation to serotonin transporter gene.

42
Q

What did Caspi et al, 2003 do?

A

Divided into groups based on serotonin transporter gene measured depressive symptoms. Results no difference in number of stressful events between genetic groups. Genotype - non-significant. Interaction - highly significant.

43
Q

What can longitudinal studies do with genes?

A

Reveal how these genes interact with the environment and produce depressive symptoms.