Genetics Flashcards
1
Q
What is diabetes in general , and what determine treatment
A
genetic 6 slide 2
2
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
3
Q
WHat is MODY , list the gene defects involved
A
genetic 6 slide 8
4
Q
Descrtibe the whole beta -glucose sensing system or insulin secretion
A
genetics 6 slide 9
5
Q
Describe the consequences of Glucokinase MODY
A
genetic 6 slide 15
6
Q
how is HNF-1 alpha mutation best managed
A
Genetics 6 slide 12
7
Q
Describe how MODY canbe identiffied and benefits / consequences of identifying it
A
gentics 6 slide 14
8
Q
A
9
Q
Describe the consequences of HNF1-α Mutations
A
genetic 6 slide 15-16
10
Q
how is GCK MODY best managed
A
genetics 6 slide 17
11
Q
Describe the clinicsl features of two rare types of MODY
A
genetics 6 slide 18
12
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
13
Q
Describe the treatment for permanent neonatal diabetes
A
genetics 6 slide 23,24
14
Q
A
15
Q
Describe the benefits of Diagnosing PND
A
genetics 6 slide 25
16
Q
Describe the general features of mutations in monogenic diabetes
A
genetics 6 slidew 26
17
Q
Desvcribe what genetic testing in mongenic diabtets involves
A
gentics 6 slide 28
18
Q
Compare approach , use , pros and cons of using Danger and next generation sequencing
A
genetics 6 slide 29
19
Q
Give the details of assigning pathogenicity
A
genetics 6 slide 30
20
Q
Describe the spectrum of genetic variation
A
genetics 6 slide 31
21
Q
Describe the different syndromic mitochondrial diabetes you can get
A
genetics 6 slide 34
22
Q
Describe the key features of mitochondrial diabetes
A
getnetics 6 slide 36
23
Q
Describe the tkey features of polygenic diabetes and how they devaite from monogenic diabetes
A
genetics 6 slide 37
24
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
25
Describe the difference between CNVs and SNPs
Genetics 6 slide 39, 43
26
What are CNVs and where are they commonly encountered
slide 44
27
Explain the whole ideas of spectrums in disease
genetics 6 slide 46
28
Explian what prescion medicine is
genetics 6 slide 47
29
_Define the seven types of congenital abnormalities_
genetics 1-5 word,1
30
Give details of the arms of chromosomes
genetics 1-5 word,2
31
_Describe how to determine the different types of chromosome_
genetics 1-5 word,2
32
_What is the human karyotype. Explain how it may be studied._
genetics 1-5 word,2
33
_Define and / or describe all the different types of chromosomal abnormalities you can get._
genetics 1-5 word,3
34
_Describe the different types of translocations you can get._
genetics 1-5 word,3
35
_Give the detail of how balanced translocation usually occurs. (only try an understand example bit if you have time)_
genetics 1-5 word,4
36
state proportion of new-borns with down’s
genetics 1-5 word,4
37
what risk factor does downs usually have a strong association with
genetics 1-5 word,5
38
Describe the clinical features of the different trisomies(state the name of the necessary number)
genetics 1-5 word,5
39
**_2)Give the details of the different ways that you can get Down’s_**
genetics 1-5 word
40
**_Compare two Sex Chromosome Aneuploidies_**
genetics 1-5 word,6
41
**_Explain the significance of Dosage Compensation ingenetics_**
genetics 1-5 word,6
42
_Explain how someone_ _can be chromosomally one gender and phenotypically the other gender._
genetics 1-5 word,7
43
**_Explain how Genomic Disorders may occur and state whether they will be visible on a karyotype_**
genetics 1-5 word,7
44
_Compare two genomic disorders_
genetics 1-5 word,7
45
**_Compare two types of Genetic Disease_**
genetics 1-5 word,8
46
**Define the following: Mendelian Inheritance, Allele, Homologous Chromosomes**
genetics 1-5 word,8
47
**_Different alleles maybe described as MUTATIONS or POLYMORPHISMS. Describe the difference between a mutation and polymorphism_**
genetics 1-5 word,8
48
_Define the different types of mutation_
genetics 1-5 word,9
49
_Recall the different symbols to use when drawing pedigrees_
genetics 1-5 word,9
50
**_Recall the different types of mendelian inheritance patterns_**
genetics 1-5 word,9
51
_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_
genetics 1-5 word,10
52
_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._
genetics 1-5 word,10
53
_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_
genetics 1-5 word,10
54
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._
genetics 1-5 word,10
55
_2)Describe two problems that a mutation of the CFTR gene can cause_
genetics 1-5 word,10
56
_Describe the patterns of inheritance of X-linked recessive disorders_
genetics 1-5 word,11
57
_Name the most well- known example of X-linked recessive disorders, and describe the mechanisms of disease_
genetics 1-5 word,11
58
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.
genetics 1-5 word,12
59
**_2) Explain what is significant about the genetic heterogeneity of the following disorders:_** _CF and CAVD; haemophilia; epidermiolysis bullosa_
genetics 1-5 word,12
60
_Explain the following terms:_ **_Incomplete Penetrance, Variable Expressivity, Phenocopy, Epistasis_**
genetics 1-5 word,12
61
**_Describe the general Molecular Mechanisms of dominant, recessive and co-dominant conditions._**
genetics 1-5 word,12
62
**_Implications on Treatment of the Molecular Mechanisms of dominant, recessive and co-dominant conditions._**
genetics 1-5 word,12
63
_Give examples of genetic disease under the following categories :_
* **_Imprinting Disorders, Mitochondrial Disorders, Inborn Errors of Metabolism_**
genetics 1-5 word,13
64
**_Explain the importance of the parental origin of chromosomes_**
genetics 1-5 word,13
65
**_Explain the importance of DNA Methylation in genetics_**
genetics 1-5 word,13
66
Describe the symptoms, management and genetic mechanism of Prader-Willi Syndrome
genetics 1-5 word,14
67
_2)Give the details of the deletion of the critical region as it take splces in the Prader Willis Syndrome and Angelman_
genetics 1-5 word,15
68
**_escribe methods for Molecular Diagnosis of PWS/AS_**
genetics 1-5 word,16
69
_Compare the symptoms, prevalence, management, diagnosis and genetic mechanism and methods of diagnosis of Prader Willis Syndrome and Angelman Syndrome_
genetics 1-5 word,16
70
**_Describe the nature of The Mitochondrial Genome_**
genetics 1-5 word,17
71
EXPLAIN THE MECHANISM THROUGH WHICH MITOCHONDIAL DISEASE IS INHERITED
genetics 1-5 word,17
72
_Explain heteroplasmy and it’s consequences_
genetics 1-5 word,17
73
**_Name two examples of Mitochondrial Diseases_**
genetics 1-5 word,18
74
_1)Compare the symptoms, prevalence , management and diagnosis of two mitochondrial disorders Compare the genetics involved in two mitochondrial disorders_
genetics 1-5 word,18
75
_2)Describe groups of people normally affected by LHON._
genetics 1-5 word,18
76
_Describe what happens in i_**_nborn Errors of Metabolism_**
genetics 1-5 word,19
77
**_Describe what takes place in the UK Newborn Screening Programme_**
genetics 1-5 word,19
78
_Describe the clinical presentation of phenylketonuria, and explain its pathogenesis_
genetics 1-5 word,20
79
**_Describe the Treatment for PKU_**
genetics 1-5 word,20
80
**_Describe the clinical presentation of MCAD Deficiency_**
genetics 1-5 word,21
81
**_Explain the mechanism of the pathology of MCADD_**
genetics 1-5 word,21
82
**_Describe MCAD Deficiency Management_**
genetics 1-5 word,21
83
_What the relationship between cancer and selection_
genetics 1-5 word,22
84
_Compare the functions of oncogenese and tumour supressors_
genetics 1-5 word,22
85
Describe the types of genetic changes in the cell that give rise to cancer
genetics 1-5 word,23
86
_Describe the types of genetic changes in the cell that give rise to cancer_
genetics 1-5 word,23
87
**_Explain the Two Hit Hypothesis in cancer_**
genetics 1-5 word,23
88
**_Explain Loss of Heterozygosity (LOH) in cancer_**
genetics 1-5 word,24
89
Explain why most cancers are Sporadic
genetics 1-5 word,25
90
_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_
genetics 1-5 word,25
91
_Describe the **Patho-genetic mechanism of BRCA genes**_
genetics 1-5 word,25
92
what does Familial Adenomatous Polyposis and Hereditary Non-Polyposis Colorectal Cancer come under the category of
genetics 1-5 word,25
93
**_For**_ _**Familial Adenomatous Polyposis:**_ _**describe clinical presentation , gene that is affected and the risk of cancer in those with predisposition_**
genetics 1-5 word,25
94
**_For Hereditary Non-Polyposis Colorectal Cancer: describe its poroportion in colorectal cancer, the gene affected and risk of getting the cancer after predisposition_**
genetics 1-5 word,26
95
Describe Patient Management for Inherited Cancer Syndromes
genetics 1-5 word,26
96
_What are cytogenetic changes, describe their role in cancer_
genetics 1-5 word,26
97
_Explain how translocation can cause cancer, use an examples to illustrate uyour answer, explain how cytogenetic analysis is usually used_
genetics 1-5 word,26
98
_Explain the treatment used for_ **_Chronic Myeloid Leukaemia_**
genetics 1-5 word,28
99
_Explain how you use **different techniques to quantify the level of disease at different levels of treament.**_
genetics 1-5 word,28
100
Explain why one must quantify residual disease in CML?
genetics 1-5 word,29
101
**Acute Promyelocytic Leukaemia (APML)** Potentially presents more aggressively than CML(T/F)
genetics 1-5 word,29
102
_Explain how **Acute Promyelocytic Leukaemia (APML) forms , and its treatment**_
genetics 1-5 word,29
103
**_Explain what Pharmacogenomics is and its current application_**
genetics 1-5 word,20
104
Explain the relevant screening procedures that take place during pregnancy
genetics 1-5 word,31
105
Under what circumstances is prenatal testing arranged?
genetics 1-5 word,32
106
Describe the Aims of Prenatal Testing
genetics 1-5 word,32
107
_Categorise the different prenatal tests appropriately, describe the different types of prenatal testing that may used and how they may be used and why._
genetics 1-5 word,32
108
**_List the Reproductive Options for_** _If there is a known reproductive risk_
genetics 1-5 word,35
109
_Describe the whole administrative and legal procedures involved in **Egg and Sperm Donation & Adoption(pobably not important)**_
genetics 1-5 word,36
110
**_Describe the Pre-implantation Genetic Diagnosis process_**
genetics 1-5 word,36
111
**Describe the Eligibility Criteria for PGD**
genetics 1-5 word,37
112
Describe the problems with PGD
genetics 1-5 word,37
113
**_Describe The Role of Genetic Counselling in Prenatal Testing_**
genetics 1-5 word,37
114
**_Describe things to consider to Facilitating Decision-Making in prenatal testing_**
genetics 1-5 word,37
115
1. **_De scribe Cystic fibrosis as an example of a monogenic disease and explain how it may be diagnosed_**
genetics 7 word,
116
_Explain how multiple mutations in the CFTR gene may be checked for?_
genetics 7 word,1
117
_Explain the need for Sanger sequencing and how it is carried out_
Genetics 7 word,2
118
**_1.Describe how Next generation sequencing works_**
genetics 7 word,3
119
_Explain how Ribosome sequencing is done and why it is used(refer to samii )_
genetics 7 word,4
120
_Describe how NGS is used for Pharmacogenetics_
Genetics 7 word,5
121
_Give details of how Biomarkers are used in gentics_
genetics 7 word, 6
122
Describe Use of NGS for rapid diagnosis in infectious diseases
Genetics 7 word,6
123
_Describe Limitations of NGS_
genetics 7 word,7
124
_Explain what (CRISPR)/Cas9 technology is begninig to be used for_
genetics 7 word,7
125
_Describe Limitations of CRISPR_
genetics 7 word,8
126
_State Ethical questions regarding gene technology`( not needed koind off)_
Genetics 7 word,9
127
**_Compare summaries for method, output , cost , advantage and disadvantage of using PCR, Sanger Sequencing and NGS_**
genetics 7 word,9
128
What New techniques have potential to revolutionise medicine)
genetics 7 word,9
129
* _Describe t he Many challenges to New techniques have potential to revolutionise medicine_
Genetics 7 word,9
130
genetics 7 word
