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MCD > Genetics COPY > Flashcards

Genetics COPY Flashcards

1
Q

what risk factor does downs usually have a strong association with

A

genetics 1-5 word,5

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2
Q

Describe the different syndromic mitochondrial diabetes you can get

A

genetics 6 slide 34

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3
Q

1)Compare the symptoms, prevalence , management and diagnosis of two mitochondrial disorders Compare the genetics involved in two mitochondrial disorders

A

genetics 1-5 word,18

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4
Q

Describe how MODY canbe identiffied and benefits / consequences of identifying it

A

gentics 6 slide 14

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5
Q

Describe the Aims of Prenatal Testing

A

genetics 1-5 word,32

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6
Q

Define the following: Mendelian Inheritance, Allele, Homologous Chromosomes

A

genetics 1-5 word,8

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7
Q

What is the human karyotype. Explain how it may be studied.

A

genetics 1-5 word,2

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8
Q

Describe the clinical presentation of phenylketonuria, and explain its pathogenesis

A

genetics 1-5 word,20

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9
Q

Explain the following terms: Incomplete Penetrance, Variable Expressivity, Phenocopy, Epistasis

A

genetics 1-5 word,12

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10
Q

Explain the importance of the parental origin of chromosomes

A

genetics 1-5 word,13

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11
Q

Explain the importance of DNA Methylation in genetics

A

genetics 1-5 word,13

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12
Q

Explain the whole ideas of spectrums in disease

A

genetics 6 slide 46

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13
Q

Name two examples of Mitochondrial Diseases

A

genetics 1-5 word,18

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14
Q

List the Reproductive Options for If there is a known reproductive risk

A

genetics 1-5 word,35

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15
Q

1.Describe how Next generation sequencing works

A

genetics 7 word,3

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16
Q

Give details of the arms of chromosomes

A

genetics 1-5 word,2

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17
Q

Describe the treatment for permanent neonatal diabetes

A

genetics 6 slide 23,24

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18
Q

What the relationship between cancer and selection

A

genetics 1-5 word,22

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19
Q

Describe the role of GWAS in helping us with polygenic disease, describe some discoveries that have been made using this

A

genetics 6 slide 40-42

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20
Q

Describe the symptoms, management and genetic mechanism of Prader-Willi Syndrome

A

genetics 1-5 word,14

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21
Q

Describe the types of genetic changes in the cell that give rise to cancer

A

genetics 1-5 word,23

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22
Q

Explain how multiple mutations in the CFTR gene may be checked for?

A

genetics 7 word,1

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23
Q

Describe how NGS is used for Pharmacogenetics

A

Genetics 7 word,5

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24
Q
A
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25
Q

Describe what happens in inborn Errors of Metabolism

A

genetics 1-5 word,19

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26
Q

Describe MCAD Deficiency Management

A

genetics 1-5 word,21

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27
Q
  1. De scribe Cystic fibrosis as an example of a monogenic disease and explain how it may be diagnosed
A

genetics 7 word,

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28
Q

Explain the significance of Dosage Compensation ingenetics

A

genetics 1-5 word,6

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29
Q

Recall the different symbols to use when drawing pedigrees

A

genetics 1-5 word,9

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30
Q

Describe the types of genetic changes in the cell that give rise to cancer

A

genetics 1-5 word,23

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31
Q

escribe methods for Molecular Diagnosis of PWS/AS

A

genetics 1-5 word,16

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32
Q

Recall the different types of mendelian inheritance patterns

A

genetics 1-5 word,9

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33
Q

Compare the symptoms, prevalence, management, diagnosis and genetic mechanism and methods of diagnosis of Prader Willis Syndrome and Angelman Syndrome

A

genetics 1-5 word,16

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34
Q

State the minimum number of parents that must be affected before inheritance of autosomal recessive diseases and the probability that a child will be affected and/or will be carrier

A

genetics 1-5 word,10

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35
Q

Describe Limitations of NGS

A

genetics 7 word,7

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36
Q

Describe things to consider to Facilitating Decision-Making in prenatal testing

A

genetics 1-5 word,37

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37
Q

Give the detail of how balanced translocation usually occurs. (only try an understand example bit if you have time)

A

genetics 1-5 word,4

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38
Q

Explain why most cancers are Sporadic

A

genetics 1-5 word,25

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39
Q

Acute Promyelocytic Leukaemia (APML) Potentially presents more aggressively than CML(T/F)

A

genetics 1-5 word,29

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40
Q

Describe prevalence of permanent neonatal diabtetes and the mechanism of how permanent neonatal diabetes can cause its effects , stsate the major indication of PND

A

genetics 6 slide 19-23

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41
Q

2)Give the details of the deletion of the critical region as it take splces in the Prader Willis Syndrome and Angelman

A

genetics 1-5 word,15

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42
Q

State Ethical questions regarding gene technology`( not needed koind off)

A

Genetics 7 word,9

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43
Q

Explain what Pharmacogenomics is and its current application

A

genetics 1-5 word,20

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44
Q

Descrtibe the whole beta -glucose sensing system or insulin secretion

A

genetics 6 slide 9

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45
Q

Describe the different types of translocations you can get.

A

genetics 1-5 word,3

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46
Q

Compare two types of Genetic Disease

A

genetics 1-5 word,8

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47
Q

For** **Familial Adenomatous Polyposis:** **describe clinical presentation , gene that is affected and the risk of cancer in those with predisposition

A

genetics 1-5 word,25

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48
Q

Describe the nature of The Mitochondrial Genome

A

genetics 1-5 word,17

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49
Q

Describe the patterns of inheritance of X-linked recessive disorders

A

genetics 1-5 word,11

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50
Q

2)Give the details of the different ways that you can get Down’s

A

genetics 1-5 word

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51
Q

Explain the mechanism of the pathology of MCADD

A

genetics 1-5 word,21

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52
Q

state proportion of new-borns with down’s

A

genetics 1-5 word,4

53
Q

Describe the clinical features of the different trisomies(state the name of the necessary number)

A

genetics 1-5 word,5

54
Q

Compare the functions of oncogenese and tumour supressors

A

genetics 1-5 word,22

55
Q

how is HNF-1 alpha mutation best managed

A

Genetics 6 slide 12

56
Q

Describe the consequences of Glucokinase MODY

A

genetic 6 slide 15

57
Q

Explain the Two Hit Hypothesis in cancer

A

genetics 1-5 word,23

58
Q

Describe the clinicsl features of two rare types of MODY

A

genetics 6 slide 18

59
Q

Under what circumstances is prenatal testing arranged?

A

genetics 1-5 word,32

60
Q

Define the seven types of congenital abnormalities

A

genetics 1-5 word,1

61
Q

Describe Patient Management for Inherited Cancer Syndromes

A

genetics 1-5 word,26

62
Q

Explain the relevant screening procedures that take place during pregnancy

A

genetics 1-5 word,31

63
Q

EXPLAIN THE MECHANISM THROUGH WHICH MITOCHONDIAL DISEASE IS INHERITED

A

genetics 1-5 word,17

64
Q

Explain what (CRISPR)/Cas9 technology is begninig to be used for

A

genetics 7 word,7

65
Q

What are cytogenetic changes, describe their role in cancer

A

genetics 1-5 word,26

66
Q

Explain the need for Sanger sequencing and how it is carried out

A

Genetics 7 word,2

67
Q

Describe the consequences of HNF1-α Mutations

A

genetic 6 slide 15-16

68
Q

Define and / or describe all the different types of chromosomal abnormalities you can get.

A

genetics 1-5 word,3

69
Q

Describe the prevalence of inherited breast cancer and the indidence of of breatst cancer in this group , describe the two hit model in this group

A

genetics 1-5 word,25

70
Q

Explain how Acute Promyelocytic Leukaemia (APML) forms , and its treatment

A

genetics 1-5 word,29

71
Q

2) Explain what is significant about the genetic heterogeneity of the following disorders: CF and CAVD; haemophilia; epidermiolysis bullosa

A

genetics 1-5 word,12

72
Q

Implications on Treatment of the Molecular Mechanisms of dominant, recessive and co-dominant conditions.

A

genetics 1-5 word,12

73
Q

how is GCK MODY best managed

A

genetics 6 slide 17

74
Q

Describe the whole administrative and legal procedures involved in Egg and Sperm Donation & Adoption(pobably not important)

A

genetics 1-5 word,36

75
Q

Describe Limitations of CRISPR

A

genetics 7 word,8

76
Q

Compare two genomic disorders

A

genetics 1-5 word,7

77
Q

Explain the treatment used for Chronic Myeloid Leukaemia

A

genetics 1-5 word,28

78
Q

Describe the spectrum of genetic variation

A

genetics 6 slide 31

79
Q

Give an example to illustrate the following cases of genetic heterogeneity: Same gene, Different mutation, Different symptoms; Same disease, Different genes; Same disease, Different genes, Different inheritance.

A

genetics 1-5 word,12

80
Q

Describe the problems with PGD

A

genetics 1-5 word,37

81
Q

Describe Use of NGS for rapid diagnosis in infectious diseases

A

Genetics 7 word,6

82
Q

Name the most well- known example of X-linked recessive disorders, and describe the mechanisms of disease

A

genetics 1-5 word,11

83
Q

What are CNVs and where are they commonly encountered

A

slide 44

84
Q

Explain how Genomic Disorders may occur and state whether they will be visible on a karyotype

A

genetics 1-5 word,7

85
Q

What New techniques have potential to revolutionise medicine)

A

genetics 7 word,9

86
Q

Compare summaries for method, output , cost , advantage and disadvantage of using PCR, Sanger Sequencing and NGS

A

genetics 7 word,9

87
Q

Describe the general Molecular Mechanisms of dominant, recessive and co-dominant conditions.

A

genetics 1-5 word,12

88
Q

Compare approach , use , pros and cons of using Danger and next generation sequencing

A

genetics 6 slide 29

89
Q

What is diabetes in general , and what determine treatment

A

genetic 6 slide 2

90
Q

Categorise the different prenatal tests appropriately, describe the different types of prenatal testing that may used and how they may be used and why.

A

genetics 1-5 word,32

91
Q

Different alleles maybe described as MUTATIONS or POLYMORPHISMS. Describe the difference between a mutation and polymorphism

A

genetics 1-5 word,8

92
Q

2)Describe two problems that a mutation of the CFTR gene can cause

A

genetics 1-5 word,10

93
Q

Describe the Treatment for PKU

A

genetics 1-5 word,20

94
Q

Describe the Pre-implantation Genetic Diagnosis process

A

genetics 1-5 word,36

95
Q

Explain how you use different techniques to quantify the level of disease at different levels of treament.

A

genetics 1-5 word,28

96
Q

Give examples of genetic disease under the following categories :

  • Imprinting Disorders, Mitochondrial Disorders, Inborn Errors of Metabolism
A

genetics 1-5 word,13

97
Q

what does Familial Adenomatous Polyposis and Hereditary Non-Polyposis Colorectal Cancer come under the category of

A

genetics 1-5 word,25

98
Q

Explian what prescion medicine is

A

genetics 6 slide 47

99
Q

Explain why one must quantify residual disease in CML?

A

genetics 1-5 word,29

100
Q

Compare two Sex Chromosome Aneuploidies

A

genetics 1-5 word,6

101
Q

Describe what takes place in the UK Newborn Screening Programme

A

genetics 1-5 word,19

102
Q

2)Describe groups of people normally affected by LHON.

A

genetics 1-5 word,18

103
Q

Describe the Eligibility Criteria for PGD

A

genetics 1-5 word,37

104
Q

Give details of how Biomarkers are used in gentics

A

genetics 7 word, 6

105
Q

WHat is MODY , list the gene defects involved

A

genetic 6 slide 8

106
Q

Describe the tkey features of polygenic diabetes and how they devaite from monogenic diabetes

A

genetics 6 slide 37

107
Q

Explain how translocation can cause cancer, use an examples to illustrate uyour answer, explain how cytogenetic analysis is usually used

A

genetics 1-5 word,26

108
Q

Describe the clinical presentation of MCAD Deficiency

A

genetics 1-5 word,21

109
Q

For a particular example of autosomal dominant disease, give the the clinical observations, the mechanisms of the disease, the patterns of inheritance of the disease and the molecular bases of huntington’s disease.

A

genetics 1-5 word,10

110
Q

Define the different types of mutation

A

genetics 1-5 word,9

111
Q

Describe how to determine the different types of chromosome

A

genetics 1-5 word,2

112
Q

Explain heteroplasmy and it’s consequences

A

genetics 1-5 word,17

113
Q

For Hereditary Non-Polyposis Colorectal Cancer: describe its poroportion in colorectal cancer, the gene affected and risk of getting the cancer after predisposition

A

genetics 1-5 word,26

114
Q

Describe the Patho-genetic mechanism of BRCA genes

A

genetics 1-5 word,25

115
Q

State the minimum number of parents that must be affected before child is affected by autosomal dominant diseases and the probability that a child will be affected

A

genetics 1-5 word,10

116
Q

Describe the key features of mitochondrial diabetes

A

getnetics 6 slide 36

117
Q

Explain Loss of Heterozygosity (LOH) in cancer

A

genetics 1-5 word,24

118
Q

Describe the difference between CNVs and SNPs

A

Genetics 6 slide 39, 43

119
Q

Desvcribe what genetic testing in mongenic diabtets involves

A

gentics 6 slide 28

120
Q

Explain how someone can be chromosomally one gender and phenotypically the other gender.

A

genetics 1-5 word,7

121
Q

Explain how Ribosome sequencing is done and why it is used(refer to samii )

A

genetics 7 word,4

122
Q
  • Describe t he Many challenges to New techniques have potential to revolutionise medicine
A

Genetics 7 word,9

123
Q

1) For a particular example of autosomal recessive disease, give the the clinical observations, the mechanisms of the disease and the molecular bases of the disease.

A

genetics 1-5 word,10

124
Q

Describe feature s of type 1 and type 2 diabetes , describe their treatment , and how it can be managed

A

slid e 3-5

125
Q

Describe The Role of Genetic Counselling in Prenatal Testing

A

genetics 1-5 word,37

126
Q

Describe the benefits of Diagnosing PND

A

genetics 6 slide 25

127
Q

Describe the general features of mutations in monogenic diabetes

A

genetics 6 slidew 26

128
Q

Give the details of assigning pathogenicity

A

genetics 6 slide 30

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