BIO 325 Study Guide - Midterm Guide: Synteny, Ploidy, Centromere

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Recreate Phenotype
Loss of Function recreate a new mutation in the candidate gene and see if it has the
same phenotype
Ex: knockout mice
o Knocking out the CF candidate gene in mice causes CF
Rescue Phenotype
Gain of function add back a good copy of the candidate gene and see if it restores a
wild type phenotype
Problems In Identifying Genes
Do not have large enough populations to do positional cloning
Several genes contribute to the phenotype
Linkage disequilibrium mapping
Quantitative trait loci mapping
Genome wide association study
Linkage Disequilibrium Mapping
Linkage Disequilibrium Mapping is based on the assumption that if all individuals
with the disease inherited the same allele, then they should all have the same
mutation in the same gene
Another way to identify the location of genes associated with phenotypes (diseases)
Not many recombination, low resolution maps
Limitation in human genetics small number of individuals in pedigrees
Haplotype combination of alleles on a section of the chromosome
If all individuals with the disease inherited the same allele, then all should have the
same mutation in the same gene
SNPs and other polymorphism occur frequently throughout the genome
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