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BIOL1020 FINAL > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Errors in Meiosis are known as -

A

Nondisjunction

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2
Q

Nondisjunction occurs in..

A

Anaphase 1 - Homologous pairs don’t separate.

Anaphase 2 - Chromatids don’t separate.

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3
Q

An abnormal number of chromosomes is known as…

A

Aneuploidy

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4
Q

N+1

A

Trisomy

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5
Q

N-1

A

Monosomy

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6
Q

Errors can also be caused by:

A

Alterations in chromosomal structure.

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7
Q

Alterations in chromosomal structure can be:

A

Deletions, Insertions or translocations

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8
Q

In Trisomy, which 3 will survive?

A

15, 18 & 21

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9
Q

Aneuploidy of sex chromosomes can lead to…

A

XXY
XYY
XXX
XO

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10
Q

XXY is known as:

A

Klinefelter Syndrome

Barr bodies in males

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11
Q

Characteristics of Klinefelter?

A

Small testes & sterile

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12
Q

XYY characteristics?

A

No syndrome, but tend to be taller

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13
Q

XXX characteristics?

A

Super Female!

2 Barr Bodies

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14
Q

XO characteristics?

A

Single sex chromosome. More prone to recessive X linked traits.

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15
Q

YO?

A

No such thing. Male can’t survive without X!

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16
Q

Euploidy =

A

Right amount

17
Q

Partial Aneuploidy =

A

Deletions, duplications & translocations.

18
Q

Partial Aneuploidy can result from:

A

Errors in crossovers

Unequal or non-reciprocal events

19
Q

Unequal expression, caused by neighbouring genes or hot spots is an example of the

A

Dose effect - sometimes it doesn’t matter and we’ll never know.

20
Q

If someone has double the amount of hemoglobin as a result of dose effect.

A

Never know, does them no harm.

21
Q

Assuming fertilization is normal we can have:

A

Half or extra of the amount of a gene

22
Q

ABCDE->ADCBE

A

Inversion

23
Q

MNOCDE->ABPQR

A

Translocation

24
Q

Areas of high expression or low-transcribed regions?

A

Hot Spots

25
Q

If you move a gene from low to high…

A

Start producing more of that gene, therefore more expression

26
Q

ABCDE->ACDE

A

Deletion

27
Q

ABCDE->ABBCDE

A

Duplication

28
Q

Genes outside of the nucleus are called..

A

Extranuclear genes

29
Q

How many genes in mitochondria?

A

34-97

30
Q

How many genes in Chloroplasts?

A

99-115

31
Q

Where do all mitochondria come from?

A

Maternal - none in sperm. Maternal inheritance.

32
Q

Do extranuclear genes follow Mandelian inheritance?

A

No.

BIOL1020 FINAL (18 decks)

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