Brainscape's Knowledge GenomeTM

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


See full index

Genomics > Linkage Analysis > Flashcards

Linkage Analysis Flashcards

1
Q

What is a haplotype?

A

A group of alleles that are inherited together from a single parent

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

What are the three groups of genetic disease classification?

A

Mendelian / monogenic,
Non-mendelian /polygenic,
Multifactorial

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

What is a mendelian/ monogenic disease?

A

disease caused by a single gene with little or no impact from the environment
super rare but high penetrance

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

What is an example of a mendelian/monogenic disease?

A

PkD

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

What is a non-mendelian/polygenic disease?

A

Diseases or traits caused by the impact of many different genes, each only having a small individual impact on the final condition
common but low penetrance

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

What is an example of a Non-mendelian /polygenic disease?

A

Psoriasis

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

What is a multifactorial disease?

A

Diseases or traits resulting from an interaction between multiple genes and offer multiple environmental factors

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

What is an example of a multifactorial disease?

A

Heart disease

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

What is a linkage analysis?

A

methods used to map the location of a disease gene in the genome

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

What do linkage analyses do?

A

use genetic markers to identify the location of a disease gene based on it’s physical proximity

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

What do genetic maps do?

A

look at information in blocks or regions

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

What is a centimorgan?

A

The percentage chance of recombination

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

What do physical maps do?

A

Provide information on physical distance between landmarks based on their exact location

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

What is genetic linkage?

A

The tendency for alleles at neighbouring loci to segregate together at meiosis

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

When are crossovers more likely to occur?

A

When loci are separated by distance

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

Where must loci be in relation to one another to be linked?

A

Very close together

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How long does a whole genome scan for GWAS using SNPs take?

A

> 2-3 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How long does a whole genome scan for GWAS using microsatellite markers take?

A

<1-2 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What type of system is the SNP GWAS based on?

A

Microarray based

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What type of system is the microsatellite marker GWAS based on?

A

PCR based

21
Q

What is microsatellite genotyping generally used for?

A

DNA printing from very small amounts of material, paternity testing and Linkage analysis for disease gene identification

22
Q

What does fluorescent genotyping allow for?

A

multiplexing of PCR products with different colours and fragment lengths

23
Q

What resolution are fragment sizes separated down to in fluorescent genotyping?

A

1 bp resolution

24
Q

Are SNPs causal disease variants?

A

No

25
Q

In SNP genotyping microarrays, what are alleles identified by?

A

relative fluorescence

26
Q

What are SNP genotyping microarrays generally used for?

A

linkage analysis in families and GWAS in populations

27
Q

If a Marker is linked to a disease locus, how much of the time will the Same marker alleles be inherited by two affected relatives?

A

More often than expected by chance

28
Q

If a Marker and the disease locus are unlinked, what is the chance the affected relatives in a family will inherit the same marker alleles?

A

Less likely

29
Q

How do you build a haplotype?

A

By determining which allele is inherited from which parent

30
Q

How can you tell where a recombination event happened?

A

The inherited gene switches onto the other arm of the parental genotype

31
Q

What does LOD stand for?

A

Logarithm of the odds

32
Q

How can you assess the probability of linkage

A

A LOD score

33
Q

What does a LOD score do?

A

Assesses the probability of getting the same data if the two loci are linked compared to getting the same data by chance

34
Q

What is a recombination fraction?

A

The proportion of recombinant births

35
Q

What does a high LOD score mean?

A

There is a high likelihood of linkage

36
Q

How is a LOD score calculated?

A

Using genotype data for many genetic markers in multiple members of a family

37
Q

What do parametric analysis specify?

A

The pedigree structure and inheritance pattern

38
Q

What does a non-parametric analysis detect?

A

Allele sharing between affected individuals

39
Q

What will happen if different families are linked to the same disease locus?

A

Increase the overall score because LOD scores are additive

40
Q

What LOD score is considered evidence for linkage?

A

> 3

41
Q

What LOD score is considered evidence against linkage

A
42
Q

What is a critical linkage interval?

A

Where a diseased gene is found

43
Q

What type of genetic mutation is Adams-Oliver syndrome?

A

Autosomal dominant

44
Q

What are the two clinical signs of Adams-Oliver syndrome

A

Terminal transverse limb defects and scalp aplasia cutis congenita

45
Q

What are terminal transverse limb defects?

A

Truncation of the hands or feet

46
Q

What is scalp aplasia cutis congenita?

A

Loss of skin on the scalp

47
Q

What are other associated features of Adams-Oliver syndrome?

A

Neurological anomalies, cardiac malformations and vascular defects

48
Q

Where is the defect that causes Adams - Oliver syndrome according to linkage analysis found?

A

Chromosome 3

49
Q

What is the defect that causes Adams - Oliver syndrome according to linkage analysis?

A

Heterozygous mutations of a gene detected in two unrelated probands, causing a premature stop codon

Genomics (16 decks)

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