Inheritance Flashcards

1
Q

Define alleles

A

Different forms of the same gene

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2
Q

Define a genotype

A

Genetic information regarding the types of alleles present in a genome

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3
Q

Define a phenotype

A

The characteristics shown as a result of the genotype

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4
Q

Define a Dominant allele

A

If present at all, will show in the phenotype

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5
Q

Define a recessive allele

A

Must be present in homozygous form to show in phenotype

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6
Q

How is a recessive disease inherited

A

Parents being carriers by having one copy of the recessive allele

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7
Q

How can you test if an organism has a heterozygous or homozygous dominant genotype

A

A back cross

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8
Q

What is the mendelian ratio for monohybrid homozygous cross

A

1:2:1

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9
Q

What is the mendelian ratio for a dihybrid double heterozygous cross

A

9:3:3:1

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10
Q

How can a phenotype of co-dominance be expressed

A

As a mixed phenotype, eg, roan cattle that are patchy

As incomplete dominance, eg, pink carnations from white and red parents

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11
Q

How does linkage work

A

If two different genes are found on the same chromosomes there is a possibility for crossing over and so a Mendelian ratio is less likely

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12
Q

Name two conditions that are sex-linked

A

Duchenne Muscular dystrophy

Haemophilia

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13
Q

How do sex-linked conditions work

A

They are carried on the X chromosome and so if are present in a male genotype, will show in the phenotype. Females are often carriers and have male children with the conditions

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14
Q

Where are mutations more likely

A

In cells with short cycles

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15
Q

What phase of the cell cycle are mutations most likely in

A

S phase

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16
Q

What is translocation

A

Breaking off of part of all of a chromosome and attaching to another

17
Q

Define triploid

A

Three sets of genetic information

18
Q

Define polyploidy

A

Having multiple sets of chromosomes

19
Q

Define non-disjunction

A

A faulty spindle causes chromosomes to not be shared equally in anaphase. This is a leading cause of chromosomal mutations

20
Q

What is trisomy

A

Having three of the same chromosome

21
Q

What is Down’s Syndrome caused by

A

Non-disjunction causing trisomy of chromosome 21

22
Q

What are gene mutations

A

Much smaller and much more common than chromosomal mutations

23
Q

Conditions caused by chromosomal mutations

A

Down’s syndrome

Patau Syndrome

24
Q

Name common mutagens

A

Ionising radiation
Chemicals
Metals
Infectious agents

25
Q

How might you be affected by having the alleles for sickle cell anaemia

A

Heterozygous genotype means you carry the trait and 30% of your blood cells are affected
Homozygous affected means 100% of your cells are affected and you have a decreased life expectancy

26
Q

How do proto-oncogenes cause cancer

A

Mutations to these genes cause oncogenes which cause cancer through uncontrolled cell division by preventing programmed-cell death

27
Q

How do tumour suppressor genes cause cancer

A

Mutations to these genes means damage is no longer repaired to DNA

28
Q

Explain epigenetics

A

Pre-mRNA can be copied wrong, causing a change to the protein synthesised without a change to the DNA

29
Q

What is X inactivation

A

epigenetic changes can switch off an entire chromosome

30
Q

What is genomic imprinting

A

Inactivated genes in gametes can be transferred to the next generation