Heredity Flashcards

1
Q

Condensed DNA allowing genetic code to be passed down to generations

A

chromosomes

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2
Q

unit of genetic material encoding a trait

A

gene

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3
Q

alternative forms of a gene

A

allele

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4
Q

the physical location on the chromosome where the gene resides

A

locus

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5
Q

containing two complete sets of chromosomes

A

diploid

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6
Q

containing one complete set of chromosomes

A

haploid

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7
Q

diploid, non reproductive cells; mutations not passed to offspring

A

somatic cells

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8
Q

located in testes and ovaries, and undergo meiosis to produce gametes; are diploid and mutations are passed to offspring

A

germ cell

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9
Q

sex cells that are haploid and combine to form diploid zygotes; mutations are passed to offspring

A

gamete

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10
Q

genetic component of inheritance; combination of both alleles from parents

A

genetic component of inheritance

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11
Q

physical trait displayed arising from genetic component

A

phenotype

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12
Q

A trait that is expressed no matter what the other trait is

A

dominant allele

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13
Q

Only expressed if there is no dominant allele is present

A

recessive allele

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14
Q

Same allele type from father and mother

A

homozygous

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15
Q

different alleles from father and mother

A

heterozygous

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16
Q

having only a single copy of a gene instead of two; usuall y in males due to one x and one y chromosome

A

hemizygous

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17
Q

says that the gametes of an organism will only carry one allele for each gene

A

law of segregation

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18
Q

says that different homologous chromosome pairs separate independently of one another; results in very diverse offspring

A

law of independent assortment

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19
Q

says that a dominant allele masks the effect of a recessive allele

A

law of dominance

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20
Q

The parental generation is usually a ___ __ crossed against a ___ __, or a __ ___ cross, which results in all heterozygous offspring

A

homozygous dominant, homozygous recessive, true breeding

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21
Q

The ______ generation is the first generation of offspring and is the result of breeding parental organisms. It usually guarantees all ___ offspring or ____

A

F1, heterozygous, monohybrids

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22
Q

The ___ is the second generation of offspring and usually comes from crossing the F1 generation with itself. usually the ratio is ______

A

F2, 1:2:1

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23
Q

Cross between heterozygotes for 2 particular traits

A

dihybrid cross

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23
Q

Test cross of heterozygotes used to look at inheritance of one set of alleles

A

monohybrid cross

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24
Q

To make a dihybrid cross, first two ___ __ parents must be bred. Then the resulting ____ offspring are bred together. The dihybrid cross confirmed the law of __ ___

A

true breeding, heterozygous, independent assortment

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25
Q

The phenotypic ratio for a 2 heterozygous parents offspring is

A

9:3:3:1

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26
Q

when an organism with an unknown genotype is crossed with a homozygous recessive organism

A

test cross

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26
Q

When there is more than one dominant allele, and a heterozygous individual will show a blend between the phenotypes of the homozygotes

A

incomplete dominance

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27
Q

When both inherited dominant alleles are completely expressed

A

codominance

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28
Q

When there are more than two possible alleles for a genes (e.g. blood type, eye colour)

A

multiple alleles

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29
Q

When one gene’s expression affects the phenotypic expression of another

A

epistasis

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30
Q

When a single gene affects multiple phenotypic traits

A

pleiotropy

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31
Q

The interaction of many genes that shapes one phenotype; tends to be traits that are on a spectrum (e.g. skin colour and height) and are often in a bell curve distribution in the population

A

polygenic inheritance

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32
Q

genes that are on autosomal genes (e.g. gene for sickle cell anemia)

A

autosomal gene

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33
Q

Gene that is carried on the X or Y chromosome

A

sex linked genes

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34
Q

Most chromosomes are located on the ___ chromosome, for example for ____. Men only have one x chromosome, so they will express the gene with only one __ ___. __ ___ gene resides on the y chromosome

A

X, colourblindness, affected allele, webbed toes

35
Q

Someone that is heterozygous for a recessive allele

A

carrier

36
Q

Men cannot be ___ for X linked diseases, and must have inherited from their ___

A

carriers, mothers

37
Q

When expression is influenced by the sex of the individual carrying the trait; ex. baldness gene

A

sex influenced gene

38
Q

When allele expression is affected by which parent it came from; affects autosomal chromosomes; turning off or on of selective genes

A

genomic imprinting

39
Q

The probability that an organism with a specific genotype will express the corresponding phenotype

A

penetrance

40
Q

Describes the variation of a phenotype of a specific genotype; the amount of expression

A

expressivity

41
Q

a female phenomenon in which one of the two x chromosomes is condensed into a barr body that is not expressed; random

A

x inactivation

42
Q

Turner’s syndrome is due to a complete or partial absence of a ___ ___. This disease occurs because not all genes on the __ __ are inactive. Some are kept active and without those, the individual cannot function. ____ between chromosomes are necessary for healthy functioning

A

x chromosome, barr body, interactions

43
Q

When the heterozygous genotype has a higher relative fitness than homozygous dominant or recessive individuals (ex. sickle cell disease and malaria resistance)

A

heterozygote advantage

44
Q

When two or more genes reside physically close to one another and are inherited together

A

linked genes

45
Q

linked genes manifest in the __ __ that occurs during __ __. The closer the genes are physically on the chromosomes, the __ likely they are to be separated by crossing over. Gene linkage determines whether or not different genes on the same chromosome will end up going to __ ___

A

crossing over, meiosis I, less, different gametes

46
Q

The likelihood that two genes will be separated by crossing over; the closer the genes, the lower the likelihood

A

recombination frequency

47
Q

The highest recombination frequency of two genes is ____%

A

50

48
Q

Diagram that represents a family tree to show the occurrence of heritable traits over multiple generations

A

pedigree

49
Q

Unaffected parents having an affected offspring is indicative of a ___ allele

A

recessive

50
Q

Autosomal dominant pedigree charts do not ____ generations, but the affected parents can be ____ offspring, if both are ___. Males and females are __ __. An example is ___ ___

A

skip, unaffected, heterozygotes, equally effected, huntington’s disease

51
Q

Autosomal recessive pedigree charts can ___ generations, and 2 unaffected parents can have __ ___. Males and females are both equally affected, and an example is __ ___

A

skip, affected offspring, cystic fibrosis

52
Q

X linked dominant pedigree charts will never have two unaffected parents having ___ offspring. The trait is never passed from the __ to ___. All ___ of an affected father will get the trait. Sons of an affected____ may or may not have the trait. The gene is dominant so males and females are __ ___

A

affected, father, son, daughters, mothers, equally affected

53
Q

In X linked recessive pedigree charts, the trait can only be passed on from __ to ___ but never __ to ___. A normal father will never have an affected ____, but affected mothers will always have affected ___. It can __ generations, and ___ are more frequently affected. Examples include ___ __ and ___

A

mother, son, father, son, daughter, sons, skip, males, colour blindness, hemophilia

54
Q

When close relatives mate together, it results in ___ pedigree charts, and increase in the likelihood of a _ ___ appearing. __ ___ line indicate inbreeding

A

consanguinity, recessive conditions, double line

55
Q

Problems that can be caused by mutations, environmental factors, or other damage to chromosomes

A

genetic defects

56
Q

A mutation that occurs at the level of a single nucleotide

A

point mutation

57
Q

point mutation that results in a shift of the reading of the codon

A

frameshift mutation

58
Q

point mutation that results in the shift of a purine for another purine or pyramidine for another pyramindine

A

transition mutation

59
Q

mutation in which purine nucleotide is converted to a pyramidine or vice versa

A

transversion mutation

60
Q

mutation that changes a wild type allele to mutant allele

A

forward mutation

61
Q

mutation that changes a mutant allele back to a wild type allele

A

backward mutation

62
Q

when chromosomes do not separate during mitosis or meiosis

A

non disjunction

63
Q

___ can occur in cells that undergo mitotic nondisjunction during __ ___. This is when a fraction of the body cells have __ or __ chromosomes. this can also occur as a result of __ ___

A

mosaicism, mitotic nondisjunction, embryonic development, extra, missing, nucleotide mutations

64
Q

Meiotic non disjunction results in gametes with __ or extra chromosomes. _______ is when there are 3 copies of a chromosome and ____ causes down syndrome. ___ is when there is only one copy of the chromosome. This nondisjunction can occur in ___ or ___

A

missing, trisomy, trisomy-21, monosomy, meiosis I, meiosis II

65
Q

When an organism has extra or missing chromosomes

A

aneuploidy

66
Q

___ is the process of visually examining the full set of an organism’s chromosomes to evaluate ___. it is performed during the ___ of the cell cycle and allows you to identify the __, __ and __ of the chromosomes. ___ and _______ syndromes can be detected from this

A

karyotyping, abnormalities, metaphase, number, size, shape, down, turner’s

67
Q

When two chromosomes swap segments; resulting in different sizes and banding patterns

A

translocations

68
Q

when a chromosome segment is repeated on the same chromosome resulting in a longer chromosome

A

duplication

69
Q

when a chromosome segment is rearranged in the reverse of its original orientation

A

inversions

70
Q

when part of one chromosome is moved to a different chromosome

A

substitution

71
Q

when part of one chromosome is lost and the chromosome is shorter

A

deletion

72
Q

the physical break in chromosomes that can result in deletions, rearrangements, translocations, etc.

A

chromosomal breakage

73
Q

Normally, __ stimulate normal growth, but if mutated becomes a ____, which cause cancer. One example is the ___ gene

A

proto-oncogenes, oncogenes, ras

74
Q

_____ genes prevent cells that dividing excessively. If mutated to __ activity, it can contribute to cancer formation. An example is the ___

A

tumor-suppressor, decrease, p53

75
Q

Viruses can also cause cancer by ___ with the host genome. This can disrupt the genes responsible for regulating __ ___, and disruption of the __ __

A

integrating, normal growth, cell cycle

76
Q

Substances that cause cancer

A

mutagenic agents

77
Q

Mutagenic agents include ____ rays, ___ rays, ___, chemicals like ____, ___ smoke, ____ ___and _ ___, as well as ___ ____ and ____.

A

cosmic, x, nitrate, cigarette, mustard gas, benzoyl peroxide, human paillomavirus, helicobacter pylori

78
Q

__ prevents unregulated cell growth by preventing the stabilization of _____ ____ during cell division. _____ drugs kill off rapidly dividing cells

A

cholchicine, mitotic spindles, chemotherapeutic

79
Q

Autosomal dominant conditions include ___ disease (NS degeneration), _____ (dwarfism), and ____ (excess cholesterol in the blood that progresses to heart disease)

A

huntington’s, achondroplasia, hypercholesterolemia

80
Q

Autosomal recessive conditions include _____ (phenylalanine breakdown instability) ___ ___ (fluid buildup in respiratory tracts), __ disorder (inability to breakdown lipids, affecting brain function), _____ ____(defective hemoglobin), and _____ (inability to breakdown galactose)

A

phenylketonuria, cystic fibrosis, tay-sachs, sickle-cell anemia, galactosemia

81
Q

Sex linked recessive conditions include ____ (abnormal blood clotting), __ ___, and ___ __ __ (a progressive loss of muscle)

A

hemophilia, colour blindness, duchenne’s muscular dystrophy

82
Q

Aneuploidy disorders include __ syndrome (extra 21 chromosome), ___ syndrome (missing X chromosome), ____ syndrome (extra X chromosome), ___ _ ___ syndrome (piece of chromosome 5 missing)

A

down, turner, klinefelter’s, cri du chat

83
Q

___ ___ is due to the fact that genes exist outside the nucleus in eukaryotes in the __ and ___. Defects in mitochondrial DNA can reduce a cell’s ___ production and all of the defects are ___ inherited

A

extranuclear inheritance, mitochondria, chloroplasts, ATP, maternally

84
Q

Genes that prevents the survival of an organism

A

lethal allele

85
Q

Gene that when mutated in the mother, results in a mutant phenotype in the offspring regardless of the offspring’s genotype

A

maternal effect gene

86
Q

Maternal effect genes result because of maternal defective products in the __ such as ___ or ___.

A

egg, mRNA, proteins