Chapter 5 Flashcards

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1
Q

A genotype that causes death

A

lethal

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2
Q

causes death before the individual can reproduce

A

lethal genotype

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3
Q

t/f lethal genotypes prevents passage of genes to the next gen

A

t

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4
Q

t/f early-acting lethal alleles causes spontaneous abortion

A

t

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5
Q

t/f a double dose of dominant allele (lethal) cancels the mutation

A

f

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6
Q

t/f an indiv has two alleles for any autosomal gene

A

t

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7
Q

t/f genes cannot have multiple alleles bcz its sequence can deviate in many ways

A

f

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8
Q

t/f multiple alleles are considered carrier testing for cystic fibrosis

A

t

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9
Q

one allele is expressed, while the other is not

A

complete dominance

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10
Q

heterozygous phenotype is between those of the two homozygotes

A

incomplete dominance

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11
Q

different alleles that are both expressed in a heterozygote

A

codominance

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12
Q

alkaptonuria - inability to breakdown ___

A

tyrosine

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13
Q

phenylketonuria - inability to breakdown ____

A

phenylalanine

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14
Q

t/f the three general phenomena that seen to be exceptions to Mendel’s law, but are really not: gene expression, mitochondrial inheritance, linkage

A

t

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15
Q

what type of alleles cause spontaneous abortion

A

early-acting lethal alleles

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16
Q

t/f ABO gene encodes a cell surface protein while ABO blood group is based on the expression of codominant alleles

A

T

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17
Q

it is determined by the patterns of molecules on the surfaces of red blood cells - these molecules are embedded in the plasma membrane with attached sugars that extend from the cell surface

A

blood type

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18
Q

a phenomenon where one gene affects the expression of a second gene; the interaction between different genes, not between the alleles of the same gene

A

epistasis

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19
Q

a gene that affects the expression of another gene

A

modifier gene

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20
Q

In epistasis, the blocked gene is expressed normally, but the product of the modifier gene (activates or inactivates) it, removes a structure needed for it to contribute to the phenotype, or otherwise
counteracts its effects.

A

inactivates

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21
Q

refers to all-or-none expression of a genotype

A

penetrance

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22
Q

refers to the severity or extent

A

expressivity

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23
Q

Genotype is (incompletely or completely) penetrant if some individuals do not express the phenotype

A

incompletely

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24
Q

Phenotype is variably (expressive or inexpressive) if symptoms
vary in intensity among different people

A

expressive

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25
Q

An allele combination that produces a phenotype in everyone who inherits it is (completely or incompletely) penetrant

A

completely

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26
Q

A genotype is (completely or incompletely) penetrant if some individuals do not express the phenotype.

A

incompletely

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27
Q

A single-gene disorder with many symptoms, or a gene that controls several functions or has more than one effect

A

pleiotropy

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28
Q

a part of heme that is routed into the urine instead of being broken down and metabolized in cells

A

porphyrin ring

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29
Q

a disease that results from deficiencies of any of several enzymes required to make heme

A

porphyrias

30
Q

y/n Is Marfan syndrome pleiotropic?

A

y

31
Q

when different genes produce the same phenotype

A

genetic heterogeneity

32
Q

Genetic heterogeneity can occur when genes encode enzymes that (inhibit or catalyze) the same biochemical pathway, or different proteins that are part of the pathway

A

catalyze

33
Q

An environmentally caused trait that appears to be inherited

A

phenocopy

34
Q

revealed that complications to mendelian inheritance are more common than originally thought

A

human genome sequence

34
Q

revealed that complications to mendelian inheritance are more common than originally thought

A

human genome sequence

35
Q

t/f mitochondrion’s mtDNA have 36 genes without noncoding sequences

A

f

36
Q

t/f mitochondrion mutation rate is greater than nuclear dna

A

t

37
Q

t/f mitochondrial genes can be transmitted from mother and father to all of their offspring

A

f

38
Q

t/f mitochondrial genes encode RNA molecules and proteins

A

t

39
Q

how many mitochondrial genes encode proteins that function in cellular respiration

A

13

40
Q

the process that uses energy from digested nutrients to synthesize ATP

A

cellular respiration

41
Q

several mitochondrial disorders result from mutations in ______

A

mtDNA

42
Q

a mutation in a mitochondrial gene that encodes a tRNA or rRNA impairs the organelle’s ability to manufacture ______

A

proteins

43
Q

this technique enable woman to avoid transmitting a mitochondrial disorder

A

ooplasmic transfer

44
Q

condition where the mtDNA sequence is not the same in all copies of the genome

A

heteroplasmy

45
Q

provides a powerful forensic tool to link suspects to crimes, identify war dead, and support or challenge historical records

A

mtDNA

46
Q

these genes are maternally inherited and mutate rapidly

A

mitochondrial genes

47
Q

in this disorder, cells contain mitochondria that have different alleles of a gene

A

heteroplasmy

48
Q

genes that are close on the same chromosome are said to be_____

A

linked

49
Q

refers to the transmission of genes on the same chromosome

A

linkage

50
Q

linked genes (do or do not) assort independently

A

do not

51
Q

linked genes (do or do not) produce mendelian ratios for crosses tracking two o more genes

A

do not

52
Q

an exchange between homologs that mixes up maternal and paternal gene combinations without disturbing the sequence of genes on the chromosome

A

crossing over

53
Q

chromosomes recombine during crossing-over in ________ of meiosis

A

prophase I

54
Q

______ chromosomes have the original configuration while the ________ chromosomes have new combination of alleles

A

parental, recombinant

55
Q

progeny that exhibit this mixing of maternal and paternal alleles on a single chromosome

A

recombinant

56
Q

Two dominant or two recessive alleles are on
each chromosome

A

cis

57
Q

One dominant and one recessive allele are on
each chromosome

A

trans

58
Q

correlation between crossover frequency and gene distance is used to construct ________

A

linkage maps

59
Q

distance is represented using “map units” called ______

A

centimorgans

60
Q

t/f 1 centimorgan equals 1 percent recombination

A

t

61
Q

frequency of recombination is based on the percentage of (meiotic or mitotic) divisions that break the linkage between two parental alleles

A

meiotic

62
Q

DNA sequences that serve as landmarks near
genes of interest; used starting in 1980 in linkage mappings

A

genetic markers

63
Q

DNA sequences that serve as landmarks near
genes of interest; used starting in 1980 in linkage mappings

A

genetic markers

64
Q

scan the genomes of thousands of individuals who have a particular phenotype for DNA sequences that they share, but are much rarer in people who do not have the trait

A

genome-wide association studies

65
Q

tightness of linkage between a marker and a gene of interest

A

logarithm of the odds

66
Q

indicates the likelihood that particular crossover frequency data indicate linkage, rather than the inheritance of 2 alleles by chance

A

LOD score

67
Q

t/f LOD scores of 3 or lesser signifies linkage

A

f

68
Q

set of DNA sequences inherited on one
chromosome due to linkage disequilibrium

A

haplotype

69
Q

set of DNA sequences inherited on one
chromosome due to linkage disequilibrium

A

haplotype

70
Q

t/f The farther apart two genes are on a chromosome, the more likely they are to cross over.

A

t