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Rachel Challis
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Decks in this class (27)
20.03.01 Patterns of inheritance - Definitions
What is anticipation,
Does repeat length fully correlat...,
What effect does somatic instabil...
40
cards
19.03.02 X-linked dominant and lethal
X linked dominant xld inheritance,
Example of xld x linked alport sy...,
Example of xld frax
9
cards
20.03.03 X-linked recessive
Features of x linked recessive in...,
What can affect variable expressi...,
Other times when females could be...
22
cards
20.03.04 AR disorders - i.e. SMA
Estimated incidence of sma,
Carrier frequency of sma,
Is it a common cause of infant death
36
cards
19.03.05 Haploinsufficiency
Are most autosomal genes dosage s...,
What is haploinsufficiency,
What genes are more likely to be ...
21
cards
19.03.06 Gain of function
Types of dominant mutations,
What are the two possible results...,
Gof muations
11
cards
20.03.07 AD - dominant negative effect
What are dominant negative variants,
What has likely evolved to protec...,
Which proteins are particularly s...
14
cards
20.03.08 Cystic Fibrosis
Mode of inheritance in cf,
Prevalence,
Carrier frequency
42
cards
20.03.09 Fragile X and FMR1 related disorders
Examples of fmr1 related disorders,
What does fmr1 gene encode,
Other cellular functions of fmrp
25
cards
20.03.10 Imprinted chromosomes and syndromes
What is imprinting,
Summary of imprinting gene facts,
5 mechanisms that can lead to imp...
17
cards
20.03.11 PWS/AS
Clinical features of pws,
Clinical features of as,
Genomic region and genes involved...
13
cards
19.03.12 Beckwith-Wiedemann and Russell-Silver syndrome
What region is important for bws ...,
What controls the normal imprinti...,
Domain 1 what are its 4 main units
16
cards
19.03.13 One gene, many diseases and one disease, many genes
What is pleiotropy,
One gene multiple disorders examp...,
One gene multiple disorders examp...
11
cards
19.03.14 Friedreich's ataxia (LoF)
What is a repeat expansion disorder,
How do repeat expansion disorders...,
Can they be in coding and non cod...
14
cards
20.03.15 Triplet repeat disorders - gain of function e.g. HD
What is the origin of repeat expa...,
What is genetic anticipation,
What are the two groups of triple...
40
cards
20.03.16 Other repeats - polyalanine - FSHD
What are polyalanine tracts,
How do polyalanine tracts react i...,
Physiological purpose of pa tracts
22
cards
19.03.17 Mitochondrial inheritance
What is a mitochondria mit,
Mtdna key facts,
3 main classes of mit disease
13
cards
19.03.18 Chromosome breakage syndromes
What are chromosome breakage synd...,
What are the main examples of cbs...,
Example 1 fanconi anaemiawhat is ...
6
cards
20.03.19 Abnormal phenotypes in balanced karyotypes
Can arrays detect balanced changes,
Can karyotyping detect balanced c...,
List 8 reasons why a balanced rea...
17
cards
20.03.20 Microdeletions/microduplication syndromes
What are microdeletions duplications,
What two types of microdeletion d...,
What is the common basis for mms
25
cards
20.03.21 Use of microarray for detection of idiopathic learning difficulties
What is developmental delay and i...,
Why is providing a diagnosis impo...,
What testing methodologies are used
11
cards
19.03.22 Origin and significance of markers
List 3 names for marker chromsomes,
Definition of a marker chromosome,
3 ways a ssmc can appear
18
cards
20.03.23 Genetic treatments: mutation specific therapy
What are antisense oligonucleotid...,
What stops asos from being degrad...,
Mechanisms of asos
22
cards
20.03.46 Specialist services (new topic)
What are specialist genetic testi...,
Main genetic specialisms
2
cards
Common constitutional diseases per chromosome
Common constitutional and acquire...,
Common constitutional and acquire...,
Common constitutional and acquire...
24
cards
Chromosome Disorders
1p36 deletions contiguous gene di...,
Proximal interstitial 1p36 deletion,
1p36 duplication
184
cards
Analysis and follow-up
Cml how many cultures what stimul...,
Cml how many cells analysed and s...,
Cml how many fish mets and interp...
38
cards
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Path 19.03
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