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Endocrine and Reproductive System > Genome structure and chromosome abnormalities > Flashcards

Genome structure and chromosome abnormalities Flashcards

1
Q

Adenine and Thymine make how many hydrogen bonds?

A

2

“A Tea for 2”

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2
Q

Guanine and Cytosine make how many hydrogen bonds?

A

3

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3
Q

Degenerate meaning

A

More than 1 codon per aa

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4
Q

Mitochondria DNA comes from which parent?

A

Mother

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5
Q

How do you avoid transmitting mitochondrial disease?

A

Want maternal egg but not cytoplasm

Nucleus removed from maternal egg and placed in donor empty egg with healthy mitochondria

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6
Q

What is a chromatin?

A

Substance within chromosomes consisting of DNA and protein

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7
Q

What are 2 different types of Chromatin

A

Euchromatin

Heterochromatin

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8
Q

What is Euchromatin (chromatin)?

A

Prevalent in part of genome that is regularly used- where genes on

Less condensed
Can be transcribed

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9
Q

What is heterochromatin (chromatin)?

A

Condensed form of chromatin made of tight loops- most abundant of genome where genes switched off

More condensed
Cannot be transcribed usually

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10
Q

What is the P arm on chromosome?

A

Short arm of structure (of the X)

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11
Q

What is the Q arm on chromosome?

A

Long arm of structure (of the X)

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12
Q

Pathogenic variant

A

Affect on genome so no longer perform its function

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13
Q

Genetic variant

A

Not going to have any impact on function of genome

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14
Q

How can changes in DNA cause no effect?

A

Synonymous aa change (codes for same aa)

In non functional regions of genome

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15
Q

How many chromosomes in gametes?

A

23 chromosomes

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16
Q

How many chromosomes in somatic cells?

A

46 chromosomes

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17
Q

When does variation occur in meiosis?

A

During crossing over
Independent assortment
“Errors” in replication- mutations- good for evolution or bad

18
Q

What do miss match repair enzymes do?

A

Look for missmatches and remove incorrect base and put in correct base

19
Q

When does crossing over occur in meiosis?

A

Prophase 1

20
Q

Where does crossing over occur?

A

At chiasma

21
Q

When does independent assortment occur?

A

During anaphase 1

22
Q

Nullisomy

A

caused by error at meiosis, causing 2 of gametes to have no chromosomes and other 2 to have double

23
Q

Monosomic zygote

A

Only one copy of chromosome after fertilisation

24
Q

Disomic gametes

A

Gametes having double amount of chromosomes

25
Q

What is trisomic zygote?

What causes it?

A

3 copies of a chromosome

If have disomic gametes

26
Q

Down syndrome is trisomy what?

A

21

27
Q

What is turner syndrome?

A

One copy of X chromosome

28
Q

Aneupolidy

A

Loss or gain of one or more chromosome

29
Q

Monosomy

A

Loss of a single chromosome

30
Q

Trisomy/tetrasomy

A

Gain of one or two homologous chromosomes

31
Q

Polyploidy

A

Have more than 2 sets of chromosomes

32
Q

Hydatidoform mole

A

growth of an abnormal fertilized egg or an overgrowth of tissue from the placenta.

33
Q

What is trisomy 21?

A

Downs syndrome

34
Q

What is trisomy 13

A

Patau syndrome

35
Q

What is Trisomy 18

A

Edwards syndrome

36
Q

Trisomy 13 (patau syndrome) symptoms

A 
Cleft lip + palette
Too many fingers 
Brain malformation
Small eyes
Reduced distance between eyes
Clenched hands with outer fingers over lapping inner
Reduced muscle tone
37
Q

Trisomy 18

A

William syndrome

38
Q

DiGeorge Syndrome symptoms

A

Heart problems
Speech + hearing problems
Learning + behaviour problems
Hormone problems

39
Q

DiGeorge syndrome cause

A

Deletion of chromosome 22

40
Q

Aneuploidy risk

A

Maternal serum proteins, maternal age, fetal nuchal fold translucency

Endocrine and Reproductive System (10 decks)

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