Gene Mapping

Question 1

Answer 1

Question 2

Neurofibromatosis 1

Answer 2

Question 3

Shortcuts to finding the mutation

Answer 3

Question 4

Retinoblastoma

Answer 4

Question 5

Familial vs. Sporadic Retinoblastoma

Answer 5

Question 6

Inheritance of Retinoblastoma

Answer 6

Question 7

Retinoblastoma Expression

Answer 7

Question 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

Answer 8

greater than 50% of the time

Question 9

Independent Segregation

Answer 9

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.

Question 10

How many SNPs differences in people per chromosome

Answer 10

40,000 differences between people per chromosome.

Question 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

Answer 11

A combination of Polymorphisms

Question 12

Usefulness of Haplotypes

Answer 12

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

Question 13

Linked vs. Unlinked Loci

Answer 13

Question 14

What are Haplotypes

Answer 14

Question 15

Tracking Disease from generation to generation

Answer 15

Question 16

Markers

Answer 16

Question 17

Informative Genetic Markers

Answer 17

Question 18

Sample Linkage Study

Answer 18

Question 19

Recombination and Uninformative Markers

Answer 19

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.

Question 20

Linkage Disequilibrium

Answer 20

Question 21

Linkage vs. Linkage Disequilibrium

Answer 21

Linkage — In families

Linkage Disequilibrium — in populations.

Question 22

Identifying Linkage Disequilibrium

Answer 22

Question 23

LOD Scores

Answer 23

Question 24

Genetic vs. Physical Maps

Answer 24

Question 25

Finding Genes Embedded in Non-Coding DNA

Answer 25

Question 26

Proofs of Association and Causality

Answer 26

Question 27

Cystic Fibrosis Transmembrane Conductance Regulator

Answer 27

Question 28

Summary of key points I

Answer 28

Question 29

Summary of Key Points II

Answer 29