Molecular Genetics Flashcards

1
Q

Which gene regulates the cell cycle

A

tumour suppressor genes

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2
Q

What are the 4 phases of the cell cycle

A

G1 S G2 M

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3
Q

What happens in the G1 phase

A

Growth, preparation for DNA synthesis

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4
Q

What happens in S phases

A

DNA synthesis/chromosome replication

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5
Q

What happens in G2 phase

A

Growth, preparation for mitosis

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6
Q

What happens in the M phase

A

mitosis and cytokinesis

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7
Q

What are the 4 phases of M phase

A

Prophase
Metaphase
Anaphase
Telophase

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8
Q

What happens in prophase

A

chromatin condensed to chromosome

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9
Q

what happens in metaphase

A

chromosomes align in middle of the cell

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10
Q

what happens in anaphase

A

chromosomes split and migrate to opposite poles of the cell

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11
Q

what happens in telophase

A

2 daughter nuclei form at the poles of cells

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12
Q

Tendency of genes to be inherited together as a result of their proximity on the same chromosome is known as

A

genetic linkage

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13
Q

programmed cell death

A

apoptosis

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14
Q

Where in the cell does transcription occur?

A

Nucleus

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15
Q

Where in the cell does translation occur?

A

ribosomes in the cytoplasm

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16
Q

What sequenxes are splice out during the processing of mRNA

17
Q

What sequences are expressing in mRNA

18
Q

MAster control gene for development of the eye

19
Q

____ mutation cause coloblomas of optic nerve

20
Q

_____ mutataion cause Waardenburg syndrome

21
Q

____ mutataions cause aniridia

22
Q

Mutations in proteins that are important in ____ cause retinitis pigmentosa

23
Q

Methylation can cause

A

gene inactivation

24
Q

Random inactivation of the 1 os 2 x chromosomes in female resulting in lack of expression of majority of genes on they chromsome is called

A

Lyonization

25
Name 2 diseases that exhibit genomic imprinting
Prader Willi and Angelman syndrome
26
Prade WIlli syndrome occurs with deletion of paternally derived _____
15q11-q13
27
Angelman syndroe occurs with deletion of materally derived ____
15q11-q13
28
2 main mechanisms of DNA repair
excision repair and mismatch repair
29
Polymorphism of which gene related to AMD
CFH gene
30
Polymorphism of which gene related to pseudoexfoliation syndrome
LOXL1
31
Inheritance pattern of leber hereditary optic neuropathy
mitochondiral