Neurofibromatosis 1
Shortcuts to finding the mutation
Retinoblastoma
Familial vs. Sporadic Retinoblastoma
Inheritance of Retinoblastoma
Retinoblastoma Expression
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
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.
How many SNPs differences in people per chromosome
40,000 differences between people per chromosome.
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
Usefulness of Haplotypes
Haplotype is a very useful way of making a statistically significant association between the group of polymorphisms and disease.
Linked vs. Unlinked Loci
What are Haplotypes
Tracking Disease from generation to generation
Markers
Informative Genetic Markers
Sample Linkage Study
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.
Linkage Disequilibrium
Linkage vs. Linkage Disequilibrium
Linkage — In families
Linkage Disequilibrium — in populations.
Identifying Linkage Disequilibrium
LOD Scores
Genetic vs. Physical Maps
Finding Genes Embedded in Non-Coding DNA
Proofs of Association and Causality
Cystic Fibrosis Transmembrane Conductance Regulator
Summary of key points I
Summary of Key Points II