Chapter 10: Human Gene Mapping and Disease Gene Identification

Question 1

takes advantage of family pedigrees to follow the inheritance of a disease over a few generations looking for consistent, repeated inheritance of a particular region of the genome when the disease is passed on in a family

Answer 1

linkage analysis

Question 2

looks for decreased or increased frequency of a particular allele or set of alleles in sample of affected individuals taken from the population, compared with a controls set of unaffected people

Answer 2

association analysis

Question 3

If there is no crossing over in the interval between loci 1 and 2, what happens?

Answer 3

only parental (nonrecombinant) allele combinations Dm and dm occur in the offspring

Question 4

If there is one or two crossovers in the interval between loci, what occurs?

Answer 4

half the gametes will contain a nonrecombinant combination of alleles and half the recombinant combination

Question 5

when the frequency of each allele within the haplotypes is the same as the frequency of that allele in the population as a whole

Answer 5

linkage equilibrium

Question 6

nonrandom association of alleles at linked loci in populations

Answer 6

linkage disequilibrium

Question 7

A combined LOD score of what is considered “definitive evidence” that two loci are linked?

Answer 7

3+

Question 8

LOD scores of lower than what are taken as evidence that two loci are not linked

Answer 8

-2

Question 9

used to assess how strong the evidence for increased allele sharing is near polymorphic markers

Answer 9

NPL (nonparametric LOD) score

Question 10

a NPL score of what is considered evidence for increased allele sharing?

Answer 10

> 3.6

Question 11

A NPL score of what is considered strong evidence that there is allele sharing between those affected individuals

Answer 11

> 5.4