What is linkage analysis? - Answers a tool for mapping the chromosomal position of unknown genes
What is the basic principal behind linkage analysis? - Answers Genes or DNA markers that are linked,
that is physically close to each other on a chromosome, tend to be inherited together (unless disrupted
by recombination)
Linkage violates... - Answers Mendel's Law of Independent Assortment
Why aren't genes on the same chromosome transmitted together 100% of the time? - Answers
Recombination
As the distance between two loci increases, the likelihood of recombination... - Answers Increases
What is a genetic marker? - Answers DNA sequence variant having a known chromosomal location that
geneticists can use as probes for family or population genetic studies and for the construction of genetic
maps
In linkage analysis what are the two possible outcomes for each marker? - Answers Random assortment
and non-random assortment
Define polymorphism. - Answers A genetic marker in which the frequency of the minor allele is >1%
Why do markers used in linkage analysis have to be highly polymorphic? - Answers If a key member of a
pedigree being analyzed is homozygous for a particular marker, which would occur in many pedigrees
for markers that are not highly polymorphic, that marker is not informative in that family because he or
she will pass it down to all offspring regardless of whether it is linked or not linked to the gene of
interest.
What are the types of markers usually used in linkage analysis? - Answers Microsatellite repeats and
SNPs.
What is the major difference between linkage analysis and GWAS? - Answers Linkage analysis analyzes
SNPs (usually) within a family pedigree to observe linkage with the trait of interest to try to locate the
gene of interest. GWAS is analyzing a high number of patients with a disease/disorder and comparing it
to the non-affected population.
What is happening to the cost of exome and whole genome sequencing? - Answers It is decreasing as
technology becomes faster, more efficient, and more accessible.
Define exome sequencing. - Answers only coding exons (~1.5% of the human genomes) are sequenced.
Relatively simple, will only detect functional mutations in exons
Define whole genome sequencing. - Answers The entire human genome is sequenced. Has potential to
assess every variant. Computational analysis much more complicated