genomics Flashcards
linkage analysis definition
the mapping of a trait on the basis of its tendency to be co inherited with polymorphic markers
when does coinheritance take place?
lack of recombination, two loci on the same chromosome, the closer the loci the greater probability of coinheritance
polymorphic marker definition
a marker that is frequently heterozygous in the population
polymorphism definition
natural variations of a gene, DNA sequence of chromosome that have no adverse affect on the individual and occur with fairly high frequency in the general population
three different polymorphisms
VNTRs, microsatellites, SNPs
VNTRs definition
variable number tandem repeats, changes in the numbers of repeated DNA sequences arranged in tandem arrays
microsatellites definition
particular class of VNTR with repeat units of 1-6bp in length
single nucleotide polymorphism definition
due to a base substitution or indels of a single base in a non coding region, so no difference to phenotype
penetrance definition
the chance that a mutant genotype will be expressed as the corresponding mutant phenotype
concordance definition
the chance of a condition developing in both pairs of twins
relative risk definition
the chance of an individual developing a condition compared to others in the population
absolute risk definition
chance of an individual developing a condition in their lifetime
heritability definition
the proportion of the variability of the condition that can be attributed to genetic factors
gene identification definition
process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder
candidate gene definition
genes selected based on their biological, physiological and functional relevance to the disease in question
investigated during genetic association studies
