Genotype, phenotype And Inheritance Flashcards

1
Q

What is an allele?

A

A variant form of a gene

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2
Q

Define homozygous

A

When the two alleles of a gene are the same - may be dominant or recessive

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3
Q

Define heterozygous

A

The two alleles of a gene are different

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4
Q

Define hemizygous

A

When only one copy of the gene is present - for example genes on the X chromosome in males

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5
Q

What is codominance?

A

When neither of two alleles show dominance, so when both are seen in the genotype a (new) codominant phenotype is seen

E.g. Blood groups - A and B are codominant so show AB phenotype

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6
Q

What is recombination frequency?

A

How often a single chromosomal crossover takes place between two genes (measure of genetic linkage)

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7
Q

Your mitochondria is inherited from ___________

A

Your mother

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8
Q

What does polygenic mean?

A

More than one gene is involved in producing the phenotype

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9
Q

What are linked genes?

A

Genes on the same chromosome

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10
Q

Genes closer together are ________________ linked

A

More tightly

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11
Q

What are some of the symptoms of huntingtons disease?

A

Seizures
Abnormal gait
Personality change
Dementia

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12
Q

What is the function of huntingtons protein?

A

Unknown

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13
Q

What is the mutation causing huntingtons disease?

A

Mutation in short tandem CAG repeats in HTT gene.
10-25 normal
37-80 HD

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14
Q

More CAG repeats in HD may cause _____________ and _______________

A

Early onset

More severe symptoms

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15
Q

Deleted genes in what pathway have been shown to prevent HD in mice

A

The kynurenine biochemical pathway

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16
Q

How common are developmental disorders?

A

Individually rare but collectively commen

2-5% children born with major congenital malformation or show Neuro developmental disorder

17
Q

What theory explains how mitochondria came to be an intracellular organelle?

A

An evolutionary eukaryotic cell engulfed a bacteria - established a symbiotic relationship

18
Q

Which tissues/organs are high in mitochondria?

A

Skeletal muscle, cardiac muscle, neurological tissue, liver

19
Q

Define amphipathic

A

Molecule has groups with characteristically different properties (hydrophobic and hydrophilic) is equal (ish) proportions