Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

M1 Genetics > Genetic Disorder Biology > Flashcards

Genetic Disorder Biology Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

What is Amorph?

A

Complete loss of f(x)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is Hypomorph?

A

Partial loss of f(x)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is Hypermorph?

A

Increase in normal f(x)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is Neomorph?

A

New f(x)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is Anti-morph?

A

Dominant-negative (inverse agonist)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Which genetic disorders can you treat by transplants, genome editing and/or cell therapy?

A

All kinds of mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Which genetic disorders can you treat by gene addition?

A

Loss of function (A/hypomorph)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Which genetic disorders can you treat by gene inhibition?

A

Gain in function (Hyper/neo/anti-morph)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Which genetic disorders can you treat by increasing native gene expression?

A

Hypomorph

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Which genetic disorders can you treat by increasing expression of an alternative gene?

A

Loss of function (A/hypomorph)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is an example of a hypomorph mutation resulting in haploinsufficiency?

A

Familial Hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is an example of a neomorph mutation disorder?

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is an example of an anti-morph mutation disorder?

A

Osteogenesis Imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the difference between incomplete penetrance and variable expression?

A

Incomplete penetrance is discrete (+/-)

Variable expression is measured continuously (varying degrees)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is X-inactivation and when does it occur?

A

It is the lyonisation of 1 X chromosome in females to compensate for extra alleles/genes on extra X chromosome

occurs soon after fertilisation/conception

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is genetic anticipation and when does it occur?

A

When the no. mutations (trinucleotide repeats) ↑ in successive generations

Occurs somatically

17
Q

What is genomic imprinting and when does it occur?

A

It is the epigenetic modification of 1 gene copy (dependent of parent of origin)

Occurs during gametogenesis

18
Q

What are the 4 types of genetics tests?

A

1) Chromosome/cytogenetic
- Karyotype
- FISH
- Chromosomal Microarray

2) DNA/molecular
- Multi-gene panels
- Whole Exome/Genome Sequencing
- Repeat analysis

3) RNA
- FISH
- transcriptome PCR/analysis

4) Protein/product/biochemical
- directly measure product
- indirectly measure f(x)

19
Q

What is the mechanism/inheritance pattern when 2 patients present with 2 different syndromes but have the same genetic mutation?

A

Genomic imprinting
(NOT variable exp)

M1 Genetics (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions