Genetic Variation

Question 1

Genetics:

Answer 1

relating traits (phenotype) to variation in the genome

Question 2

T or F: Most of the genome is devoted to protein coding

Answer 2

False! It’s a very small percentage

Question 3

Alleles:

Answer 3

Sequence variation at a site in the genome
Alternate forms of a gene found at the same place between chromosomes

Question 4

What is the most important contributor to genetic diversity

Answer 4

single nucleotide polymorphisms (SNPs)

Question 5

Determine the allele frequency of the case subjects:

Answer 5

Question 6

What does GWAS stand for

Answer 6

Genome-Wide Association Mapping Studies

Question 7

Polygenic:

Answer 7

trait caused by multiple genes + environmental factors

Question 8

Microsatellites:

Answer 8

Simple tandem repeats of variable length

Question 9

Which mutates more frequently - SNPs or microsatellites

Answer 9

Microsatellites

Question 10

Structural variations:

Answer 10

Large scale differences in genome content
<1 kb
About 20k in mammalian genome

Question 11

What are mobile elements

Answer 11

Diverse genetic elements that integrate and propagate in the genome independent of cellular replication

Question 12

What are some examples of genomic elements

Answer 12

Transposable elements, endogenous viruses

Question 13

Why do we care about sequence differences

Answer 13

They can be used as markers to map traits

Question 14

What does the majority of sequence variation contribute to the genome

Answer 14

Not much, no meaningful contribution to a trait