Genetics Biology test 2 Flashcards

1
Q

Loss-of-function mutation

A

hypomorph (decrease)
null/amorph (absence)

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2
Q

Gain-of-function mutation

A

neomorph-mutation in the coding region leads to a new function
antimorph-altered molecular function that acts antagonistically

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3
Q

neutral mutation

A

a change in DNA sequence but no effect on protien function

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4
Q

co-dominance

A

if both alleles are present then both phenotypes are shown
Example: if a red and white flower crossed, then the offsrping will have red and white petals

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5
Q

epistasis

A

epistasis interactions occur when phenotypes are due to mutations in the same pathway, and thus can obscure each other
stands upon or hides another trait

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6
Q

complementation analysis

A

can determine if two mutations causing a similar phenotype are alleles of the same gene
good allele compensates for mutated allele

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7
Q

recessive epistasis

A

homozygous recessive hides other gene phenotype

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8
Q

dominant epistasis

A

dominant allele hides the other gene phenotype

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9
Q

complementary gene interaction

A

needed a dominant allele at two genes

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10
Q

novel phenotypes

A

heterozygous produced a new phenotype
example - squash
if A-B- disc
if A-bb or aaB- sphere
if aabb long

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11
Q

allelic series

A

can result in multiple dominant recessive relationships

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12
Q

incomplete dominance

A

can result in intermediate phenotypes
example: a cross between a red and white flower produce a pink flower

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13
Q

penetrance

A

how many affected individuals (have the genotype) express a phenotype

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14
Q

expressivity

A

the strenght of the phenotype

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15
Q

a major tool for analyzing inheritance patterns is

A

pedigree analysis
- detect (X-linked vs autosomal modes of inheritance)
- Major tool of genetic counselors to help advise

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16
Q

pedigree symbols

A

square - male
circle - female
line between male and female - mating
if there is a ^ then dizygotic twins
if there is a triangle then monozygotic twins
colored in shapes - affected individuals
half colored in shaped - heterozygous
colored circle within a normal circle - carrier of sex-linked recessive gene

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17
Q

x-linked inheritance

A

inheritance related to sex of parent carrying mutant allele

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18
Q

maternal effect

A

phenotypica traits are determined by the genotype of the mother rather than the zygotic genome
example - snails shell coiling

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19
Q

lethal mutations

A

can be recessive or dominant
if organism hase both affected genes then they die early in development

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20
Q

mitochondrial inheritance

A

shows strict maternal pattern of inheritance

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21
Q

autosomal chromosomes

A

22 pairs
contain autosomal traits

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22
Q

sex chromosomes

A

X and Y
last two pair of chromosomes

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23
Q

genoetypic sex determination

A

sex determination dependent on sex chromosomes

24
Q

genic sex determination

A

organism doesnt have sex chromosomes, rather differnt alleles at one or a few loci in the genome define sex or “mating type”

25
Q

non-chromosomal mechanisms

A

temperature dependency in some reptiles

26
Q

embryonic development

A

if SRY on the y chromosome - wolffian ducts form the vas deferns and the gonads into testes
if no SRY region or the y chromosome - mullerian duct will mature into the oviducr and promote ovary development of the gonad

27
Q

gynandromorphs and chromosomal sex determination

A

in flies sex of each cell is determined by the X:A ratio, so somatic nondisjunction can result in flies that are mosaic for male and female
loss of an x chromosome

28
Q

barr bodies

A

inactivated X chromosome against the nuclear envelope
XXY males have a barr body
XXX females have two barr bodies

29
Q

Barr body formation is _________ process, inactivating either the ______ or _______ X

A

Random, maternal, paternal
The result in the adult is a mosaic of tissues - adult is patchy
can have phenotypic consequences

30
Q

androgen insensitivity syndrome

A

the primary determinant of sex
(testis determing factor on the y chromosome)
Development of the rest of the body depends strongly on systemic hormones
Example: express female externally but internally they lack the mullerian duct derivatives and have undesended testes

31
Q

turner syndrome females

A

only have 1 X chromosome
result of nondiscjunction
most die in embryonic development but the ones that survive live normal lives
common problems include decreased fertility, high miscarriage rate

32
Q

Klinefelter syndrome males

A

XXY
result of nondisjunction
underdeveloped testes
some degree of breast development

33
Q

y-linked traits

A

“holandric” inheritance
every son of an affected male will show the trait
females should never show the trait

34
Q

Eu
Aneu
nulli

A

True
Not true
no

35
Q

Euploid

A

normal
diploid state
(2N)

36
Q

aneuploidy

A

not normal
missing 1 or more chromosomes
nullisomic (2N-2)
monosomic (2N-1)
doubly monosomic (2N - 1 - 1)
trisomic (2N+1)
tetrasomic (2N + 2)
doubly tetrasomic (2N + 2 + 2)

37
Q

monoploidy

A

only one set of chromosomes (N)

38
Q

Polyploidy

A

more than the normal number sets of chromosomes

39
Q

allopolyploidy

A

sets from different species-hybridization

40
Q

autopolyploidy

A

addition of extra chromosomes from the same species

41
Q

types of diseases that happen when there is extra number of chromosomes

A

trisomy 21: down syndrome
trisomy 13: pata u syndrome
trisomy 18: edwards syndrome

42
Q

deletion

A

loss of a part or all of a chromosome

43
Q

duplication

A

doubling of part or all of a chromosome

44
Q

inversion

A

break and repair that results in flippin garound part of a chromosome

45
Q

translocation

A

putting a piece of chromosome somewhere it is not normally found

46
Q

Cri-du-chat syndrome

A

partial monosomy due to a major deletion on 5p

47
Q

angelman or prader-willi syndrome

A

chromosome 15q deletion

48
Q

Dicentric bridge

A

caused by an attempt to segregate, will fragment

49
Q

acentric bridge

A

portion that does not have a centromere and could be lost

50
Q

example of deletion

A

ABCDE centromere FGH
ABCE centromere FGH

51
Q

examples of duplication

A

ABCDE centromere FGH
ABCBCDE centromere FGH tandem
ABCCBDE centromere FGH reverse tandem
ABABCDE centromere FGH terminal tandem

52
Q

examples of inversions

A

ABCDE centromere FGH
ADCBE centromere FGH paracentric inversion
ABCF centromere EDGH pericentric inversion

53
Q

examples of translocations

A

ABCDE centromere FGH
ADE centromere FBCGH nonreciprocal intrachromosomal translocation
if two ABCDE centromere FGH and MNOPQ centromere R
ADE centromere FGH and MNBCOPQ centromere R nonreciprocal interchromosomal translocation
MNOCDE centromere FGH and ABPQ centromere R recirpocal interchromosomal translocation

54
Q

translocations between chr 9 and chr 22 causes

A

a chromosome called the “phiadelphia chromosome”
the gene fusion makes the ABL protien function to be constitutively active and makes it an oncogene
oncogenes promote tumor development
90% if chronic myelogenous leukemia patients

55
Q

robertsonian translocation

A

caused by a reciprocal translocation typically joins the long arm of chr 21 with the long arm of chr 14 or chr 15
carrier is normall but meiotic segregation products can form an embryo with 3 copies of 21q leading to the down syndrome phenotype

56
Q

fragile sites

A

areas where the chromosome are prone to breakage during replication stress