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Genetics > Exam 3 > Flashcards

Exam 3 Flashcards

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1
Q

will predicting polygenic trait will ever be 100%

A

No

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2
Q

Mendel’s 1st law of segregation

A

individuals possess two alleles and a parent passes only one allele to their offspring

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3
Q

Mendel’s 2nd law of independent assortment

A

the inheritance of one pair of particles (genes) is independent of the inheritance of the other pair

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4
Q

chromosome theory of inheritance

A

chromosomes are the carriers of genetic heredity and genes are situated on the chromosomes

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5
Q

genetic linkage

A

when two genes are located on the same chromosomes they exhibit linkage

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6
Q

recombination

A

a process by which pieces of DNA are broken and recombined to produce new cominations of alleles

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7
Q

complete linkage

A

when the genes are located close to one another on the same chromosomes and no recombinants are produced

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8
Q

incomplete linkage

A

when genes are on the same chromosomes but are far enough apart that some recombination occurs, but they do not assort independently

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9
Q

test cross

A

when a heterozygous individual is bred with a homozygous recessive individual

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10
Q

parental “non recombinant” gametes

A

the progeny of a cross (or genotypes of the gametes) that have combinations of alleles that are like or the other of the parents

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11
Q

non parental “recombinants” gametes

A

the progeny of a cross (or genotypes of the gametes) that have non parental combinations of alleles that result from processes of genetic recombination

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12
Q

t/f if two genes are completely linked they will not assort independently

A

true

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13
Q

t/f if two genes are not linked they will not assort independently

A

false

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14
Q

crossing over

A

the physical process of reciprocal exchange of chromosome segments at corresponding positions along homologous chormosomes

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15
Q

chisma

A

a point of contact between two homologous chromosomes during meiosis which results in a crossover event

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16
Q

no crossing over

A

alleles of linked genes do not assort independently and genes that segregate together they are the same as the parents

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17
Q

formula for recombination frequency percentage

A

number of recombinant progeny divided by total number of progeny multiplied by 100

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18
Q

coupling

A

two wild type alleles are on one homologous chromosome and the mutant alleles are on the other

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19
Q

repulsion

A

is each chromosomes has one normal type allele and one mutant allele

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20
Q

a coupling phase of linkage

A

when like alleles, dominant, or recessive, are linked

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21
Q

t/f coupling has similar alleles on the same chromosome

A

true

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22
Q

a repulsion phase of linkage

A

when dissimilar alleles are linked

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23
Q

t/f with coupling the highest number of progenies are non recombinants

A

true

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24
Q

goodness of fit

A

theoretical relation based on expected progeny ratio that when calculating degrees of freedom no parameters are estimated

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25
Q

independence

A

based on only observed progeny ratio

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26
Q

t/f a chi square test can not be used to determine if genes are linked

A

false

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27
Q

genetic map

A

a representation of the genetic distance separating nonallelic genes in a linkage structure

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28
Q

genetic mapping

A

the process of determining the relative positions of nonallelic genes on the chromosomes of a species using genetic crosses to locate genes on chromosmoes relative to one another

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29
Q

are non recombinants always the most frequent when there is linkage?

A

yes

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30
Q

are recombinants least frequent with linkage?

A

yes

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31
Q

3 point testcross

A

involves 3 linked genes in a small region of the chromosome results in a trihybrid

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32
Q

coefficient of coincidence

A

the number of expected double crossovers divided by the observed number of double cross overs based on single cross over frequencies

33
Q

interference

A

degree with which a single crossover can inhibit other crossover events

34
Q

steps of genetic linkage mapping process

A

find sets of related patients, assemble patients into pedigrees, genotype patients and other family members, find genotypes that are inherited with the disease, and identify the region where they are located

35
Q

logarithm of odds (LOD)

A

the probability of obtaining the observed results under a specified degree of recombination diveded by the probability of the observed results under the assumption the genes are independently sorting

36
Q

Genome wide association

A

the nonrandom association between a trait and alleles at many loci throughout the genome

37
Q

haplotype

A

a specific set of linked alleles along a chromosome

38
Q

linkage disequilibrium

A

the nonrandom association between haplotypes of two or more loci in a general population

39
Q

single nucleotide polymorphism (SNP)

A

positions in the genome where a single nucleotide varies across individuals

40
Q

what does linkage disequilibrium do?

A

determins the extent to which association mapping can be used in a species

41
Q

t/f population origins matter when associating alleles with traits in regards to GWAS

A

true

42
Q

pedigree

A

a pictorial diagram of the family history that outlines the inheritance of one or more traits

43
Q

proband

A

the first person to report their families genetic history to a genetic counselor

44
Q

autosomal dominant traits

A

appears in both sexes w/ equal frequency, both sexes transmit the trait to their offspring, affected individuals usually have an affected parent, if one affected parent is heterozygous and the other parent is unaffected 1/2 of the offspring will be affected, and unaffected parents dont transmit the trait

45
Q

autosomal recessive

A

usually appears in both sexes with equal frequency, tends to skip generations, affected individuals are usually born to unaffected parents, if both parents are heterozygous then about 1/4 of the offspring will be affected, and more frequent occurrence with consanguinous marriages

46
Q

human autosomal recessive diseases

A

cystic fibrosis, gauchers disease, hemochromatosis, phenylketonuria, tay sachs, talasemias, sickle cell

47
Q

consanguineous

A

denoting people descending from the same ancestor (inbreeding)

48
Q

x linked recessive inheritance

A

usually more males than females are affected, affected sons usually born to unaffected mothers thus skipping a generation, approximately half of a carrier mothers sons are affected, never passed from father to son, and all daughters of affected father are carriers

49
Q

x linked dominant inheritance

A

both males and females are usually affected often more females than males, affected male parent passes the trait to all daughters and no sons, does not skip generations, and affected mothers if heterozygous pass the trait to half the sons and half the daughters

50
Q

y linked traits

A

always transmitted from father to son, only males affected, and does not skip generations

51
Q

genetic mosaicism

A

individuals whose cells hold different genetic constitutions

52
Q

dizygotic (fraternal)

A

twins arise when two different eggs are fertilized by two different sperm

53
Q

monozygotic (identical)

A

twins arise when one egg fertilized by one sperm splits in early development into two embryos

54
Q

concordance

A

the percentage of twin pairs that are concordant (both twin pairs have the trait) for a trait

55
Q

give one example where adoption studies could be useful and why

A

BMI because it is easily observed that in a home where the parents are obese it is likely that the biological children are as well but in a home where the child is adopted there is no correlation

56
Q

how many genetic diseases does a child have to be tested for nation wide

A

29

57
Q

how many genetic diseases does Missouri require a child to be tested for

A

70

58
Q

genetic counseling

A

a process of communication where patients are provided info relevant to the transmission of heritable disorders

59
Q

give one very important reasons to seek a genetic counselor

A

inbreeding

60
Q

name two genetic testing methods that are invasive

A

amniocentesis and chronic villus sampling

61
Q

name two methods genetic testing that are noninvasive

A

maternal blood screening and non invasive prenatal screening

62
Q

what is the chance of finding a genetic disease and being able to clinicly treating it

A

30-40%

63
Q

t/f interpreting genetic tests is complicated by the presence of multiple causative mutations, incomplete penetrance, and influence of environmental factors

A

true

64
Q

genetic information nondiscrimination act

A

a law that prohibits health care insurers from using genetic information in making decisions about providing health care coverage and rates

65
Q

t/f estimated recombination frequencies are very similar across speces

A

false; different

66
Q

t/f in a 3 point test cross, double crossovers are as frequent as a single crossover between genes

A

false; a 2 point test cross

67
Q

t/f if a number of observed progeny shows a 50% recombiation frequency for a test of linkage between two genes we can conclude the genes are linked

A

false; not linked

68
Q

t/f crossing over can break up the alleles of the halotype

A

true

69
Q

t/f the coeffiecient of coincidence value is first estimated prior to determining the extent of cross over interference

A

true

70
Q

t/f a 3 point test cross is experimentally similar to a 2 point test cross for mapping genes except you start with a dihybrid parent

A

false; homologous parent

71
Q

t/f in complete linkage assuming coupling all progenies are recombinants

A

false; nonrecombinants

72
Q

t/f Barbara McClintock and Harrlet Creighton provided the first definitive evidence that recombination was the physcial exchange between chromosomes using corn

A

true

73
Q

t/f for single crossovers the frequency of recombinant gametes is half the frequency of crossing over because each crossover takes place between only two of the four chromosomes of a homologous pair

A

true

74
Q

in regards to cancer concordance percentage in monozygotic and dizygotic twins what is one factor that is less likely to influences cancer occurrence

A

genetic factors

75
Q

a male coworker with an x linked blood disorder asks you what portion of his children will inherit this gene if his fiance is unaffected

A

all daughters and no sons

76
Q

discribe the relationship between recombination rate and the measurments used for map distances

A

a recombination rate of 12 = 12 mapping units

77
Q

the major difference between the study design approach used for GWAS and family linkage studies is what

A

testing unrelated versus related individuals

78
Q

a 2 point testcross shows genes a and b have a 20% recombination frequency this shows that a and b are what

A

linked on the same chromosome

79
Q

in adoption studeis on the influence of genes and enviornment it is shown that adopted individuals dont share what factor with their biological parents

A

environment

Genetics (6 decks)

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