Module 6 Flashcards

1
Q

What is translocation?

A

Swap of nucleotide on each strand

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2
Q

What is huntington’s disease?

A

Autosomal dominant disorder on chromosome 4, repeated trinucleotide

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3
Q

In a human pedigreee tree, how do we tell if someone is dominant or recessive?

A

Recessive has no parental trait whereas dominant does.

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4
Q

What is cystic fibrosis?

A

Autosomal recessive

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5
Q

What are multifactorial genetic diseases?

A

Consequences of variations of mutations in maple genes

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6
Q

What can contribute to environment for mutations?

A

Parenting, culture, smoking, drinking etc.

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7
Q

What is hemochromatosis?

A

The body absorbs too much iron from food, inherited but small number have serious problems

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8
Q

What is aneuploidy?

A

Having an unusually amount of chromosomes

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9
Q

What chromsomes does\ down syndrome affect?

A

16 to 17

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10
Q

What does non-disjunction mean?

A

Failure to separate, e.g chromosomes

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11
Q

What is germline mutations?

A

Every cell in body

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12
Q

What are somatic mutations?

A

only daughter cells

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13
Q

What is anuegen?

A

Changes number of chromosomes

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14
Q

What is teratofen?

A

Causes malformation of an embryo

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15
Q

What is tumour supressor genes?

A

when mutated fail to supress pathways which lead to cancer

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16
Q

What is oncogenes?

A
17
Q

What is NGS?

A

Next generation sequencing

18
Q
A