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Endocrine and reproductive system > Genome structure and chromosome abnormalities > Flashcards

Genome structure and chromosome abnormalities Flashcards

1
Q

How many H bonds between A and T?

A

2

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2
Q

How many H bonds between G and C?

A

3

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3
Q

What are the bases attached to in DNA?

A

Two sugar-phosphate backbones

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4
Q

What are genes?

A

Units of heredity

Made up of DNA, act as instructions to make proteins

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5
Q

Transcription

A

DNA to RNA

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6
Q

Translation

A

RNA to protein

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7
Q

What are introns?

A

Non-coding sections between genes

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8
Q

What do introns do?

A

Contain regulatory elements to turn genes on or off

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9
Q

How many genes does mitochondria DNA code for?

A

37

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10
Q

Are mitochondria inherited from mother or father?

A

Mother

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11
Q

What is chromatin?

A

DNA + RNA + protein

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12
Q

What are the main proteins in chromatin?

A

Histones

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13
Q

What is a nucleosome?

A

DNA wrapped around histone

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14
Q

What ar solenoids?

A

Groups of nucleosomes

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15
Q

Two types of chromatin

A

Euchromatin

Heterochromatin

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16
Q

What is euchromatin?

A

‘Open’, prevalent in parts of genome that is regularly used when genes switchd on

17
Q

What is heterochromatin?

A

Condensed chromatin made into tight loops, abundant in genome when genes turned off

18
Q

Inherited diseases

A

Down’s syndrome, cystic fibrosis, Huntingdon;s

19
Q

Somatic cells

A

Diploid, 46 chromosomes, mitosis

20
Q

Stages of meiosis I

A

Prophase I
Metaphase I
Anaphase I
telophase I

21
Q

Phases of meiosis II

A

Metaphase II
Anaphase II
Telophase II

22
Q

Crossing over

A

Prophase I
Homologous chromosomes exchange genetic info at chiasma
Recombination

23
Q

What will changes in germline cells’ DNA result in?

A

Heritable defects

24
Q

What will changes in somatic cells’ DNA result in?

A

Non-heritable defects

25
Q

What is FISH?

A

Fluorescence in situ hybridisation

Checks patients’ chromosomes for imbalances

26
Q

What is aneuploidy?

A

Loss/gain of more than one chromosome

27
Q

What is monosomy?

A

Loss of a single chromosome

28
Q

What is trisomy?

A

Gain of one or two homologous chromosomes

29
Q

What is polyploidy?

A

Addition of one or more haploid complements

30
Q

Down’s syndrome symptoms throughout life

A 
Sleepy/excess nuchal skin as baby
Protruding tongue, small ears, upward sloping eyes 
Single palmar crease
Heart defects - patent ductus arteriosus
Short stature
31
Q

Patau syndrome

A

Trisomy 13

32
Q

Edward’s syndrome

A

trisomy 18

33
Q

What is DiGeorge syndrome?

A

Heart malformations - cleft palate and facial features
Deletion on chromosome 22
Short stature
Schizophrenia

34
Q

What Is Wolf-Hirschhorn syndrome?

A

Deletion of terminal portion of chromosome 4

Severe learning difficulties

35
Q

What is cri-du-chat syndrome?

A

Deletion of terminal portion of chromosome 5

Endocrine and reproductive system (25 decks)

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