Chapter 4 book Flashcards

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1
Q

what does wild type allele produce

A

produce enzyme with full activity

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2
Q

what does mutant allele produce

A

little enzyme activity

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3
Q

If WT is dominant and mutant is recessive R+ produces 50 units of enzyme activity and r produces no functional enzyme list the genotypes and amount of enzyme activity. Also, 40 units of of enzyme activity is needed to produce genotype

A

Homozygous Dominant R+R+ is 100 units
Heterozygous R+r is 50 units
Homozygous Recessive rr is 0 units

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4
Q

Haplosuffcient

A

Dominant WT alleles due to 1 copy sufficient to produce WT phenotype

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5
Q

If WT is recessive and mutant is dominant T1 produces 10 units of enzyme activity and T2 produces 5 units of enzyme activity list the genotypes and amount of enzyme activity. Also, 18 units of enzyme activity is needed to produce genotype

A

Homozygous recessive T1T1 20 units
Heterozygous T1T2 15 unit
Homozygous Dominant T2T2

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6
Q

Haploinsufficient

A

1 copy not enough to make wild type

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7
Q

loss of function mutation

A

Significant decrease or complete loss of functional activity of gene product

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8
Q

gain of function mutation

A

identify alleles with new functions or expression altered for more activity than WT

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9
Q

null mutation

A

complete loss of gene function in comparison with wild type genes

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10
Q

What type of mutation is a lethal homozygous genotype and why

A

Null mutation because it blocks transcription of gene product that lacks activity or deletion of gene

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11
Q

leaky mutation

A

partial loss of gene

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12
Q

dominant negative mutations

A

change polypeptides from interacting normally to produce functional proteins which prevents polypeptide interactions normally produced

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13
Q

hypermorphic mutation

A

produce more gene activity per allele than wild type and is dominant and result from regulatory mutations

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14
Q

neomorphic mutations

A

acquire new activities not found in wild-type dominant

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15
Q

Describe the notation system for genes

A

uppercase is dominant and lowercase is recessive
If not complete dominance different notation used
+ for WT and - for mutant

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16
Q

incomplete dominance

A

phenotype of heterozygous distincitive

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17
Q

codominance

A

heterozygous phenotype different form phenotype of homozygous parents and both alleles are expressed in heterozygotes

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18
Q

List genotypes for the phenotypes of blood types

A

Type A: IAIA, IAi
Type B: IBIB, IBi
Type AB: IAIB
Type O:ii

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19
Q

Allelic Series

A

Group of alleles that display hierarchy of dominance relationship among them

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20
Q

Discuss C gene system of mammalian coat color

A

Allele C dominant to all and is wild type
Cch= diluted coat color is hypomorphic
Ch= fully pigment extremities but rest of body no pigmentation and is temperature sensitive
c= no enzymatic activity
C>Cch>Ch>c

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21
Q

lethal alleles

A

certain mutations cause early death or termination usually in homozygous

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22
Q

Detection of lethal alleles in plants

A

embryonic lethals that fail to produce homozygous lethal or gametophyic lethals that fail to generate lethal allele carrying gametes

23
Q

Detection of lethal alleles in animals

A

detected when segration ratios distorted due to failure to produce affected catagroy

24
Q

delayed age of onset

A

abnormalities do not appear until organisms reproduce

25
Q

Complete pentrance

A

phenotype always produced with genotype

26
Q

Sex limited traits

A

both sexes carry genes but 1 sex shows it

27
Q

Example of sex limited traits

A

development of breast

28
Q

Sex influenced traits

A

inheritance pattern for 1 sex differs from inheritance pattern for the other sex even when genotype is the same

29
Q

pentrance

A

organism phenotype consistance with genotype

30
Q

nonpentrance

A

organism with particular genotype fails to produce phenotype

31
Q

fully penetrant

A

genotype always expressed

32
Q

Incomplete prentrant

A

nonpentrant

33
Q

variable expressivity

A

Same genotype produces phenotype in varying degree

34
Q

Why is it hard to pinpoint incomplete and variable

A

both modify the expression, environmental or developmental

35
Q

Gene-environment interaction

A

Influence of environment factors on expression

36
Q

What can PKU be treated if it is known about

A

dietary management since it cant break down protein

37
Q

pleiotropic

A

alteration of multiple features of phenotype by 1 mutation

38
Q

Gene interaction

A

collaboration of multiple genes to make one phenotype character

39
Q

Who made the 1 gene 1 enzyme hypothesis

A

beadle and tatum

40
Q

1 gene 1 enzyme hypothesis

A

each gene produces enzyme and each enzyme has specific role in pathway

41
Q

what happens if there is a mutant phenotype according to 1 gene 1 enzyme hypothesis

A

loss or defective fuction of emzyme

42
Q

prototroph

A

wild type

43
Q

auxotroph

A

mutant

44
Q

changes of 1 gene 1 enzyme hypothesis

A

many genes make transport proteins, structural proteins, RNA and some proteins join together to make function

45
Q

explain biosynthetic pathways

A

sequential step to be completed where 1 step creates substrate for next step and completion of every step needed for production

46
Q

genetic dissection

A

test ability of mutant to execute each step of pathways and assemble steps of pathway

47
Q

epistatic interactions

A

result from gene products interacting in pathways

48
Q

No interation phenotype

A

9:3:3:1

49
Q

completmentaty gene interaction

A

9:7 where 9= C_P_ and 7= ccP_,C_pp, and ccpp
Gene works in tandem to make 1 product

50
Q

recessive epistatsis

A

9:3:4 where 9=B_E_, 3= bbE_, and 4=B_ee or bbee

51
Q

Genetic heterogeneity

A

mutations of different genes produce same or similar phenotypes

52
Q

Genetic complementation analysis

A

experimental analysis of crosses to test alternative genetic explantations

53
Q

complementaiton group

A

fail to complement each other - sign on chart and are on same gene