Gene Mapping Flashcards Preview

Fundamentals of Molecular Medicine > Gene Mapping > Flashcards

Flashcards in Gene Mapping Deck (29):
1

2

 

 

 

Neurofibromatosis 1

3

 

 

 

Shortcuts to finding the mutation

4

 

 

 

Retinoblastoma

5

 

 

 

Familial vs. Sporadic Retinoblastoma

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Inheritance of Retinoblastoma

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Retinoblastoma Expression 

8

Choose the best answer: Two loci that are linked segregate together

greater than 50% of the time

less than 50% of the time

50% of the time

Will segregate independent

 

 

 

greater than 50% of the time

9

 

 

 

Independent Segregation 

 

 

 

Mendel says that if loci are far apart they will segregate independently, however if they are close together they can segregate together more than 50% of the time.

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How many SNPs differences in people per chromosome

 

 

 

40,000 differences between people per chromosome. 

11

In genetics, a haplotype is:

 

A single genetic polymorphism

A combination of Polymorphisms

A DNA polymorphism that results in a polymorphic protein

A polymorphism seen only in somatic cells

 

 

 

A combination of Polymorphisms

12

 

 

 

Usefulness of Haplotypes

 

 

 

Haplotype is a very useful way of making a statistically significant association between the group of polymorphisms and disease. 

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Linked vs. Unlinked Loci

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What are Haplotypes

15

 

 

 

Tracking Disease from generation to generation

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Markers

17

 

 

 

Informative Genetic Markers

18

 

 

 

Sample Linkage Study

19

 

 

 

Recombination and Uninformative Markers

Most important slide in gene mapping. 

A locus has multiple alleles. Top 3 are different haplotypes. Then a mutation occurred in D locus. 

Middle Haplotype is a marker for the disease because the mutation arose on that hyplotypic background but you don’t know where the mutation is specifically.

You just know that people with this disease have this A2B2C4D4 haplotype so you can narrow down where the mutation can occur. 

After recombination the mutated locus has recombined with a different marker/haplotype. So now someone with a different than normal haplotype can also have the disease. 

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Linkage Disequilibrium 

21

 

 

 

Linkage vs. Linkage Disequilibrium 

 

 

Linkage — In families

Linkage Disequilibrium — in populations.

22

 

 

 

Identifying Linkage Disequilibrium 

23

 

 

 

LOD Scores

24

 

 

 

Genetic vs. Physical Maps

25

 

 

 

Finding Genes Embedded in Non-Coding DNA

26

 

 

 

Proofs of Association and Causality 

27

 

 

 

Cystic Fibrosis Transmembrane Conductance Regulator

28

 

 

 

Summary of key points I

29

 

 

 

Summary of Key Points II

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