Chapter 7 and 20

Question 1

Any location in the genome that is defined by genetic or physical map or genome coordinates

Answer 1

Genetic Locus

Question 2

A genetic locus with two or more alleles that are each present in more than 1% of a species’ members, produces through mutation (genetic variants), can be in coding or noncoding sequences, can affect gene function or have no effect, and their frequencies can change over time or remain at equilibrium.

Answer 2

Polymorphic Locus

Question 3

A characteristic of DNA that identifies different alleles of a locus. All of them have a codominant inheritance pattern

Answer 3

Molecular (DNA) Markers and Molecular Genotyping

Question 4

A family-based approach to genetic mapping that involves crosses in experimental organisms and pedigrees in humans. Determine recombination frequencies between two traits, between a trait and a molecular marker, or between two molecular markers

Answer 4

Linkage Mapping

Question 5

A population-based approach to genetic mapping that doesn’t require crosses or pedigrees. Involves case-control studies (large number of unrelated individuals with the trait vs a large number of individuals without the trait), and is a statistical concept rather than a genetic concept

Answer 5

Association Studies

Question 6

Maps based on recombination frequency

Answer 6

Genetic Maps (Linkage maps)

Question 7

Maps based on DNA sequence

Answer 7

Physical Maps

Question 8

A score used to determine if human genetic loci are linked. A score above 3.0 is strong evidence for linkage, a score below -2.0 means linkage can be rejected, and a score in between is inconclusive

Answer 8

Logarithm of Odds Score (LOD Score)

Question 9

The most important category of polymorphic genetic markers; almost all have only two alleles (biallelic), account for the vast majority of total sequence variation between human genomes, each newborn child has 44 to 82 new mutations that were not present in the somatic cells of either parent

Answer 9

Single Nucleotide Polymorphisms (SNPs)

Question 10

A specific set of SNP variants that are closely linked and very rarely separated by recombination

Answer 10

Haplotype

Question 11

The frequency of alleles within a haplotype is higher than predicted by random association

Answer 11

Linkage Disequilibrium (LD)

Question 12

Genotype frequencies at one locus are independent of genotype frequencies at the second locus

Answer 12

Linkage Equilibrium