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