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SN Genetics > Lectures > Flashcards

Lectures Flashcards

1
Q

Epigenetics=

A

Alteration of the expression of the genes without affecting the DNA sequence

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2
Q

Mendel’s laws

A

Uniformity
Indepepndent assortment
Segregation

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3
Q

Multiple allelilsm=

A

For many taits, there are more than one mutant allele within the population

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4
Q

Allele heterogenity=

A

Different mutation of the same gene can cause similar disease

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5
Q

Which protein is mutated in Marfan syndrome

A

Fibrillin

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6
Q

Hypercholesterolemia is a type of _______ heterogenity

A

Locus

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7
Q

Blue sclera, brittle bones and deafness are all symptoms of

A

Osteogenesis imperfecta

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8
Q

Osteogenesis imperfecta caused by

A

Collagen mutation

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9
Q

Triplets repeat in fragile X syndrome

A

CGGx50

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10
Q

What is the affected protein in fragile X syndrome

A

FMR-1

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11
Q

What risk is elevated with age in male meiosis?

A

Replication errors -> Point mutatuion

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12
Q

Generally, AR diseases tend to be less/more severe than AD ones

A

More

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13
Q

AR diseases usually result in defective

A

Enzyme/Hg

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14
Q

AR diseases related to Tyrosine

A

PKU (Phe->Tyr)
Cretinism (Tyr->Thyroxine)
Albinism (Tyr->Melanin)

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15
Q

What test is used for detecting PKU

A

Guthrie test

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16
Q

AR deafness can be caused by

A

Connexin 26 mutation

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17
Q

Absence of ________ occurs in __ of males with CF

A

Vas Deferans

95%

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18
Q

Bardet-Biedl syndrome characterized by

A

Ciliopathy (immotile cilia) based symptoms

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19
Q

If you get Cholera infection, Which mutation is helpful?

A

CF

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20
Q

If you get Tuberculosis, Which mutation is helpful?

A

Tay-Sachs

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21
Q

If you get Malaria infection, Which mutation is helpful?

A

B-Thalassemia

Sickle cell anemia

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22
Q

Sickle cell is caused by

A

Substitution

Glu is placed with Val

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23
Q

XR diseases

A

Hemophilia
Ornithine Transcarbamylase def.
G6PD def.

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24
Q

Hemophilia A is due to

A

Factor VIII absence

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25
Q

Hemophilia B is due to

A

Factor IX absence

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26
Q

Hemophilia is an example of _____ heterogenity

A

Locus

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27
Q

What is the largest known gene

A

DMD- Dystrophin

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28
Q

Dystrophin interacts with

A

Cytoskeletal F-actin

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29
Q

What are the possible forms of Kallmann syndrome?

A

AD
AR
XR

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30
Q

XD diseases examples

A

Hypophosphatemia
Fragile X syndrome
Rett syndrome

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31
Q

What is the repeat in Fragile X syndrome

A

CGGx200 (50 and more)

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32
Q

What happens when triplet repeat number is higher than 200 in Fragile X synd.?

A

CpG islands are hypermethylated -> Inhibts transcription of the FMR protein

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33
Q

CpG islands are hypermethylated -> Inhibts transcription of the ____ protein

A

FMR

34
Q

Achondroplasia is caused by a mutation in the

A

Fibroblast growth factor receptor 3 (FGFR3) gene

35
Q

Achondroplasia is __ (inherutance pattern)

A

AD

36
Q

Sex influenced traits=

A

Inherited autosomally

Higher penetrance in one sex than other

37
Q

Baldness is an example of

A

Sex influenced trait

38
Q

Androgenic alopecia=

A

Pattern hair loss

39
Q

Sex limited traits=

A

Autosomal genes whose expression is limited to one sex only

40
Q

What do sex limited traits require?

A

Specific hormones for expression

41
Q

Example for sex limited genes?

A

Secondary sexual characters

42
Q

GnRH independent precocious puberty is __ (inhertiance pattern)

A

AD but sex limited

43
Q

Example of Y linked trait but not inherited (always new mutation)

A

Azoospermy

44
Q

Histone modification can be (4)

A

Acetylation
Methylation
Phosphorylation
Ubiquitination

45
Q

When Histones are methylated, usually it means ____

A

More condensed chromatin

46
Q

Deletion occurs when a chr. …..

A

Breaks and a piece is lost

47
Q

Types of deletion

A

Terminal

Interstitial

48
Q

Deletion results in _____ monosomy for the lost region

A

Partial

49
Q

Partial deletion of short arm of Chr. 5 results in

A

Cri Du Chat

50
Q

Spontaneous deletion of q11.23 of chr. 7 results in

A

Williams syndrome

51
Q

22q11.2 deletion syndrome=

A

DiGeorge syndrome

52
Q

Duplication of 17p12=

A

Charcot-Marie-Tooth disease

53
Q

Types of chromosomal translocation

A

Reciprocal
Robertsonian
Insertional

54
Q

Centric fusion=

A

Robertsonian translocation

55
Q

Robertsonian translocation takes place btw.

A

2 acrocentric chr.

56
Q

Reciprocal translocation is when

A

הם מחליפים ביניהם חומק שווה בשווה מספר הכרומוזומים נשאר זהה

57
Q

Normal number of structually normal chr.=

A

Euploidy

58
Q

Less or more than the normal diploid number=

A

Aneuploidity

59
Q

Most common aneuploidity

A

Trisomy

Monosomy

60
Q

What is the only monosomy that is viable?

A

Turner’s syndrome

61
Q

Turner’s syndrome is __ monosomy

A

X

62
Q

Trisomy 13=

A

Patau syndrome

63
Q

Trisomy 18=

A

Edwards syndrome

64
Q

45,X=

A

Turner

65
Q

47,XXY=

A

Klineflter

66
Q

X chr. PAR genes contribute to

A

Height

67
Q

47,XXY=

A

Jacobs syndrome

68
Q

Chimera=

A

An indevidual with more than one cytogenetically distinct population of cells with different origin

69
Q

Microchimerism=

A

Presence of small number of cells that originate from another indevidual and are therefore genetically distinct from other cells of the host indevidual

70
Q

What is the difference btw. mutation and polymorphism?

A

Mutation is a disease causing variation

71
Q

Which syndrome is caused by errors in TP53?

A

Li Fraumeni Syndrome

72
Q

Which syndrome is caused by failure in mismatch repair?

A

Lynch syndrome

73
Q

Phenotypes associated with Loss-of-function are most often AD/AR

A

AR

74
Q

Which deficiency is related to lower risk of heart attacks and stroke?

A

LPA

75
Q

Genetics is the study of…

A

Heredity

76
Q

Genomics, is the study of

A

The entirety of an organism’s genes – called the genome

77
Q

Imprinting results in ___

A

Monoallelic expression of a set of genes

78
Q

A very important thing about human gern cells!!

A

Germ cells mustn’t be modified in humans!!

79
Q

How the body affect the drug=

A

Pharmacokinetics

80
Q

How the drug affect the body=

A

Pharmacodynamics

81
Q

Polygenic trait=

A

A trait which is the result of many genes being expressed at one time

SN Genetics (5 decks)

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