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SN Genetics > PP > Flashcards

PP Flashcards

1
Q

RT-PCR means (2)

A

Reverse Transcriptase Polymerase Chain Reaction

Real Time Polymerase Chain Reaction

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2
Q

When checking for covid-19, which PCR do we use?

A

Reverse Transcriptase Polymerase Chain Reaction

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3
Q

Sex influenced trait example

A

Baldness

Body hair

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4
Q

Sex limited trait example

A

Lactating breast

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5
Q

Histone modification examples

A

Methylation
Acetylation
Phosphorylation
Ubiquitination

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6
Q

Histone acetylation leads to

A

Euchromatine- relaxed

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7
Q

Histone methylation leads to

A

Heterochromatine- condensed

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8
Q

Where can we find NOR?

A

Acrocentric chromosomes p<

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9
Q

Variable expressivity=

A

Degree in which a genotype is phenotypically expressed

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10
Q

What is APC

A

Anaphase Promoting Complex

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11
Q

When does APC activates?

A

Metaphase

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12
Q

In which stage sister chromatids seperate?

A

Anaphase of meiosis II

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13
Q

How many alleles are involved in the determination of ABO blood group

A
  1. Bcs we inherit one from mother one from father. There are three alleles- A,B,O in total
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14
Q

Genotype of Turner syndrome

A

XO

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15
Q

Genotype of Klinefelter syndrome

A

XXY

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16
Q

Genotype of Metafemale

A

XXX

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17
Q

In-frame mutation=

A

A mutation where the protein production can continue regularly after the mutation.
Majority of the protein remains intact
Milder symptoms

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18
Q

In-frame mutation example

A

Becker muscular dystrophy

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19
Q

Which mutation can lead to frameshift?

A

Deletion

Insertion

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20
Q

Example for frameshift mutation

A

Tay-Sachs disease

Cystic fibrosis

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21
Q

Describe the type of mutation in in-frame mutation

A

Always a repeat of 3 codon (inerted/deleted)

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22
Q

Microchimerism=

A

Presence of small number of cells that originates from another indevidual

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23
Q

Chimerism=

A

A single organism composed of cells with more than one distinct genotype

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24
Q

Most frequent forms of Robertsonian translocations are between chromosomes

A

13 and 14, 14 and 21, and 14 and 15

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25
Q

Which chr. are the acrocentic chr.

A 
13
14
15
21
22
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26
Q

Robertsonian translocations involves which type of chr?

A

Acrocentric

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27
Q

Which chr. are involved in ring formation?

A

All of them

28
Q

How do we note ring formation?

A

r

29
Q

Synapsis=

A

Pairing of two homologous chromosomes that occurs during meiosis

30
Q

The presence of an abnormal number of chromosomes in a cell is also called

A

Aneuploidy

31
Q

In which chr. can trisomy occur?

A

With any chromosome

32
Q

Pseudoautosomal regions, PAR1, PAR2=

A

Homologous sequences of nucleotides on the X and Y chromosomes

33
Q

Why PAR are called this way?

A

Genes within them are inherited just like any autosomal genes

34
Q

Where does PAR1 located?

A

p arm

35
Q

WHere does PAR2 located?

A

q arm

36
Q

one gene influences two or more seemingly unrelated phenotypic traits=

A

Pleiotropy

37
Q

Huntington’s disease is an example of a genetic disorder caused by

A

A late acting dominant allele

38
Q

Angelman syndrom is a type of

A

Genomic imprinting

lack of function of part of chromosome 15 inherited from a person’s mother

39
Q

A protein structure that forms between homologous chromosomes (two pairs of sister chromatids) during meiosis and is thought to mediate synapsis=

A

Synaptonemal complex

40
Q

Pleiotropy=

A

one gene influences two or more seemingly unrelated phenotypic traits

41
Q

Different allelic combination lead to similar phenotypes=

A

Allelic heterogenity

42
Q

Severity of the illness can often vary in the affected persons even suffering from the same variant

A

Expressivity

43
Q

Genetics of PKU

A

AR

44
Q

Genetics of G-6PD

A

X-linked recessive

45
Q

Genetics of familiar hypercholesterolemia

A

AD

46
Q

Genetics of Tay-Sach

A

AR

47
Q

Genetics of High BP

A

Multifactorial

48
Q

Consequence of mutation on the polyadenylation site

A

Increases the instability of mRNA

49
Q

Consequence of mutation on the 5’ UTR

A

Alters the protein synthesis

50
Q

Tetrad=

A

Association of a pair of homologous chromosomes (4 sister chromatids) physically held together by at least one DNA crossover

51
Q

Bivalent=

A

One pair of chromosomes (sister chromatids) in a tetrad

52
Q

Cells with multipolar spindles are characterized by

A

More than two centrosomes

53
Q

Male pattern baldness is a ____ trait

A

Sex influenced

54
Q

Which syndrome is associated with maternal disomy for chr. 15?

A

Prader-Willi syndrome

55
Q

Variation in phenotype which is caused by environmental conditions

A

Phenocopy

56
Q

Altogether mtDNA encodes for

A

2 rRNAs, 22 tRNAs, and 13 proteins subunits

57
Q

Where is the frequency of non-disjunction higher?

Oogenesis/Spermatogenesis

A

Oogenesis

58
Q

Where is the frequency of replication error higher?

Oogenesis/Spermatogenesis

A

Spermatogenesis

59
Q

Where is the frequency of crossing over higher?

Oogenesis/Spermatogenesis

A

Oogenesis

60
Q

Numerical change in a whole set of chromosomes

A

Polyploidy

61
Q

MPF is activated at the end of

A

G2

62
Q

M-Phase-promoting factor composed of

A

cyclin-Cdk complex

63
Q

MPF promotes the entrance into mitosis (the M phase) from the G2 phase by

A

Phosphorylating multiple proteins needed during mitosis

64
Q

When mutations at multiple genomic loci are capable of producing the same phenotype

A

Locus heterogeneity

65
Q

Locus heterogeneity examples

A

Osteogenesis imperfecta

66
Q

Fragile X chr. happens due to

A

Repeat of base triplets

SN Genetics (5 decks)

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