Genetics Unit 6 key terms

identifying functional parts of the genome and linking them to information regarding its function

Not all ORF encode exon, not all genes encode protein,

Transcriptome, transfactome, proteome, epigenome

concentration of all the transcripts present

location of all transcription factors that bind the chromosome

locations of all DNA modification (cytosine methylation)

concentration of all proteins present

Chromatin Immunoprecipation assay used for transfactome

versions of gene that vary in sequence and usually function

any sequence difference between individuals

large number of different alleles (trait varies continuously

limited number of phenotype classes (winkled vs smooth)

• 1. multiple alleles at 1 locus affecting trait
• 2. multiple loci affecting trait

in utero and after birth environment combined

region of DNA linked to or containing QTG

• 1. Different inbred strains differ for many QT
• 2. Different inbred strains different @ many molecular polymorphisms throughout genome

• 1. Use inbred strains for WT and QT phenotypes
• 2. Look for QT phenotype and SNPs at thousands of loci via whole genome sequencing

• 1. Recombination between marker and linked QTl
• 2. multiple QTLs and not just one that affect QT

• 1. Compare QTL sequences in affected and unaffected offspring
• 2. Then identify any significant alleles differences in region linked to polymorphism

test panel of genome tagged strains (GTS) for trait. GTS have small regions where one strain is in the background of another

Use reverse genetics to replace or knockout candidate gene (make transgenic mouse)

Check a lot of SNPs in a lot of individuals with/without trait to find certain SNPs that are associated with trait more often than random

• 1. have smaller QTL because individuals are unrelated 
• 2. can look directly at human QT disease rather than using MO

• 1. most alleles are common and have slight effect on disease risk
• 2.identifying QTG from QTL is harder, and has to involve MO studies

any group of same species that inhabits defined area

Study of changes of allele frequency over time and their causes

any genetic change between individuals whether functional or not

occurs when allele frequency doesn't change over time

• 1. mutations
• 2. gene flow and founder effect
• 3. non-random mating
• 4. random genetic drift
• 5. selection

• 1. source of new alleles but do not change frequency of existing alleles
• 2. have very low frequency depending on species

+ and - assortative mating, inbreeding, and population structure

• random variations in allele frequency over generations. major effect is when low frequency allele drifts to 0 (fixed),
• Smaller populations drift more

• increase or decrease allele frequency and/or allele variation
• occur if different alleles confer different fitness