Practice 1-4 Flashcards

1
Q

5% of liver cells are ____

A

Polyploids

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2
Q

Polyploids cells are also called

A

POlythene giant cells

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3
Q

Giant cells derived by

A

Endomitosis

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4
Q

What is the result of not having cytokinesis?

A

Multinucleated giant cell

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5
Q

In which Meiosis Nondisjunction we have 50% of producing healthy cells?

A

Meiosis II

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6
Q

Nondisjunction=

A

Failure of homologous chromosomes or sister chromatids to separate properly during cell division

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7
Q

What is essential in meiosis? (3)

A

Two divisions
Chr. number is halfed
Genetic variability

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8
Q

Meiosis I Prophase consists of

A
Leptotene
Zygotene
Pachytene
Diplotene
Diakinesis
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9
Q

Which phase is the lomgest in Prophase I?

A

Pachytene

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10
Q

In which phase does crossing over occurs?

A

Pachytene

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11
Q

When is the chiasma visible?

A

Diplotene

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12
Q

When does synaptonema complex forms?

A

Zygotene

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13
Q

In which prophase phase does chromosomes condense?

A

Leptotene

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14
Q

Where can we find PAR1/2

A

On the telomer region of both X and Y chr.

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15
Q

Chiazma=

A

Site of creossing over

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16
Q

What is the cause of aneuploid genom mutation?

A

Meiotic nondisjunction

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17
Q

Meiotic nondisjunction is more frquent in

A

Oogenesis

18
Q

p=q is called

A

Metacentric

19
Q

Whic chr. has NOR?

A

Acrocentric

13,14,15,21,22

20
Q

Which region are dark in G-banding

A

A-T

21
Q

FISH=

A

Fluorescent In Situ Hybridization

22
Q

What number of SCE is not normal?

A

14-200

23
Q

What is the most common trisomy leading to unviable offspring (miscarriage)

A

16

24
Q

47,XXY=

A

Klinefelter syndrome

25
Q

47,XY+13=

A

Patau syndrome

26
Q

47,XY+18=

A

Edwards syndrome

27
Q

45,X=

A

Turner syndrome

28
Q

Genetic disorder due to chromosome terminal deletion on chromosome 5

A

Cri du Chat

29
Q

Philadelphia chr. is an example of

A

Reciprocal translocation

30
Q

Example for non-Mendelian

A

Mitochondrial

31
Q

AD inheritance examples

A
Osteofenesis imperfecta
Achondroplasia
Huntington chorea
Marfan syndrome
Familial hypercholeterolemia
32
Q

AR inheritance examples

A
PKU
Albinism
Cystic fibrosis
Sickle cell anemia
Thalassaemia
33
Q

X linked Dominant inheritance.

Affected male aith normal women have affected son?

A

No

34
Q

X linked Dominant inheritance examples

A

Hypophosphatemia
Fragile X
Amelogenesis imperfecta

35
Q

X-linked recessive.

Who is more affected?

A

Male

36
Q

X linked Recessive inheritance examples

A

Duchenne musclular dystrophy
Becker musclular dystrophy
Hemophilia A,B
Red-green colour blindness

37
Q

SRY=

A

Testis-determining factor (TDF), also known as Sex-determining Region Y

38
Q

Mitochondrial inheritance example

A

Leber’s optic atrophy

39
Q

GIve an example of age dependent penetrance

A

Huntington’s disease

40
Q

Variable expressivity

A

Degree in which a genotype is phenotypically expressed

41
Q

Penetrance=

A

Proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype)

42
Q

Phenocopy=

A

Variation in phenotype which is caused by environmental conditions