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PART 1 > Molecular Genetics > Flashcards

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

A

introns

17
Q

What sequences are expressing in mRNA

A

exons

18
Q

MAster control gene for development of the eye

A

PAX6

19
Q

____ mutation cause coloblomas of optic nerve

A

PAX2

20
Q

_____ mutataion cause Waardenburg syndrome

A

PAX3

21
Q

____ mutataions cause aniridia

A

PAX6

22
Q

Mutations in proteins that are important in ____ cause retinitis pigmentosa

A

Splicing

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
Q

Name 2 diseases that exhibit genomic imprinting

A

Prader Willi and Angelman syndrome

26
Q

Prade WIlli syndrome occurs with deletion of paternally derived _____

A

15q11-q13

27
Q

Angelman syndroe occurs with deletion of materally derived ____

A

15q11-q13

28
Q

2 main mechanisms of DNA repair

A

excision repair and mismatch repair

29
Q

Polymorphism of which gene related to AMD

A

CFH gene

30
Q

Polymorphism of which gene related to pseudoexfoliation syndrome

A

LOXL1

31
Q

Inheritance pattern of leber hereditary optic neuropathy

A

mitochondiral

PART 1 (10 decks)

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