chapter 5

Question 1

SNPs (single nucleotide polymorphism)

Answer 1

single base change anywhere in genome

Question 2

mapping with molecular markers

Answer 2

• mapping by DNA sequencing
• SNPs (single base change) and RFLP (SNP that alters enzyme recognized sequence)

Question 3

RFLPs (restriction fragment length polymorphism)

Answer 3

SNP that alters sequence recognized by enzyme

Question 4

Snip SNPs

Answer 4

restriction site polymorphism

Question 5

microsatilite markers

Answer 5

repeats of sequences

Question 6

FISH (floresenct insitu hybridization)

Answer 6

reveals sites and position of single genes on condensed chromosome

Question 7

genetic maps show us

Answer 7

• determines if trait/disease is caused by varience of single gene
• liklihood of trait inheritence
• recombo

Question 8

does dominance alter how genes are inheritted

Answer 8

No

Question 9

dominance is interaction of…

Answer 9

products of genes

Question 10

phenotype depends on

Answer 10

allele combination

Question 11

amorph/null allele

Answer 11

complete loss of gene function

Question 12

hypomorph

Answer 12

partial loss of gene function (reduction in expression or activitiy)

Question 13

haplosuffient vs haploinsufficient

Answer 13

haplo - recessive
haploin - dominant

Question 14

loss of function mutations are usually…

Answer 14

recessive

Question 15

gain of function mutations are usually…

Answer 15

dominant

Question 16

hypermorph

Answer 16

increase in normal gene function, dominant

Question 17

antimorph/dominant negative

Answer 17

dominant and oppose normal gene function

Question 18

neomorph

Answer 18

dominant gain of gene function

Question 19

dominant negative

Answer 19

interferes with function of wild type gene function

Question 20

phenocopy

Answer 20

loss of gene function

Question 21

complete dominance

Answer 21

phenotype of homo and hetero are the same

Question 22

incomplete dominace

Answer 22

heterozygous is it’s own phenotype (1:2:1 ratio)

Question 23

codominance

Answer 23

each allele has distinct gene product, both alleles detected in heterozygote

Question 24

codominance example

Answer 24

blood type

Question 25

lethal alleles

Answer 25

cause premature death

Question 26

recessive lethel

Answer 26

if both parents are carriers, 1/4 chance of death and 2:1 ratio

Question 27

conditional mutants

Answer 27

lethals isolated and can be manipulation

Question 28

permissable

Answer 28

viable

Question 29

restrictive

Answer 29

dead

Question 30

sublethal

Answer 30

incompletely expressed

Question 31

reasons for an unclear genotype...

Answer 31

-varying degrees of dominance - multiple alleles at each locus - lethal allele

Question 32

penetrance

Answer 32

all individuals have same mutant genotype but not all are phenotypically mutant

Question 33

expressivity

Answer 33

degree that genotype is expressed

Question 34

complimentation test

Answer 34

mate 2 mutants, if the progeny are homo recessive they are on the same gene

Question 35

double mutants

Answer 35

combine mutants in pairs and see if genes interact

Question 36

infer gene interaction based on...

Answer 36

mendalian ratios (2 indepenent is 9:3:3:1)

Question 37

epistasis

Answer 37

effect one gene pair (masks or modifies) on another gene pair

Question 38

linear pathway

Answer 38

genes are linearly converted to product

Question 39

parallel pathway

Answer 39

genes are converted to other genes that combine to end product

Question 40

prototroph

Answer 40

can grow on minimal mediaa

Question 41

auxotroph

Answer 41

needs nutritional substance and minimal media for growth

Question 42

recessive mutations in same path have a ... ratio

Answer 42

9:7 ratio

Question 43

Recessive epistasis ratio

Answer 43

9:3:4

Question 44

epistasis in biosynthetic path

Answer 44

mutation in upstream gene is epistatic to downstream gene

Question 45

epistasis in regulatory development path

Answer 45

mutation in downstream is epistatic to upstream gene

Question 46

dominant episasis ratio

Answer 46

12:3:1

Question 47

modifiers

Answer 47

mutations that supress or enhance phenotype of other mutants

Question 48

supressor mutant

Answer 48

second site mutation that reverses affect of another mutant

Question 49

enhancer mutant

Answer 49

second side mutant that increases affect of another mutation

Question 50

recessive supressors segregate in a __ ratio

Answer 50

13:3