Quiz 3 Flashcards

1
Q

the inheritance and expression of inherited traits; some alterations may be found as part of a syndrome, or may occur independently (cleft lip and palate)

A

genetics

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2
Q

a distinctive association of signs and symptoms occuring together; some are inherited and others are not

A

syndrome

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3
Q

the genetic composition

A

genotype

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4
Q

the observable appearance; physical, biochemical, and physiological traits of an individual

A

phenotype

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5
Q

the hereditary units transmitted from one generation to another; found on chromosomes, which are located in the nucleus of a cell

A

genes

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6
Q

chromosomes contain ____ which directs the production of amino acids, polypeptides, an proteins by the cell

A

dna

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7
Q

does dna have the ability to duplicate itself?

A

yes

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8
Q

somatic cell division

A

mitosis

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9
Q

makes gametes

A

meiosis

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10
Q

all cells of the body, with exception of ova and spermatozoa

A

somatic cells

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11
Q

the process of cellular division in a somatic cell during a part of the cell’s life span called mitotic cycle

A

mitosis

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12
Q

after each cell division is complete, the cell enters

A

gap 1 phase (g1)

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13
Q

what comes after the gap 1 phase

A

s phase

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14
Q

what phase does replication of dna take place

A

s phase

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15
Q

the ____ phase follows the s phase, and ends when mitotic division takes place

A

gap 2

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16
Q

just before the cell divides, the dna of each chromosome ____

A

replicates(makes a copy of itself)

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17
Q

the chromosomes are lining up toward metaphase

A

prophase

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18
Q

chromosomes at the equatorial plane of the cell; long and short arms are joined at the centromere; each identical half is called a chromatid

A

metaphase

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19
Q

the chromatids are in the process of splitting

A

anaphase

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20
Q

cytokinesis occurs

A

telophase

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21
Q

ends up with the same number of chromosomes in the divided cells

A

mitosis

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22
Q

in meiosis, the primitive germ cells reduce their chromosomes by___ and become mature germ cells

A

half

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23
Q

primitive germ cells have _____ chromosomes for each pair and are called___

A

two; diploid

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24
Q

mature germ cells have ____ the number of chromosomes and are called_____

A

half; haploid

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25
Q

oogonia and spermatogonia

A

primitive germ cells

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26
Q

ova and spermatozoa

A

mature germ cells

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27
Q

the primitive germ cells must ___ their chromosome number of by ______ and then become mature germ cells

A

reduce; half

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28
Q

before the first meiosis, the primitive germ cells will ____ their Dna. This is similar to that observed in the S phase of somatic cells.

A

replicate

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29
Q

then, the chromosome pairs line up to each other in a __________ (this relationship does not occur in mitosis)

A

point by point relationship

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30
Q

the members of each pair of chromosomes line up and exchange segments at contacts known as _____

A

chiasmata

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31
Q

this crossing over achieves the _______ between a chromatid of one chromosome and a chromatid of the other chromosome pair

A

exchange of chromosome segments

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32
Q

the chromosome separates, but no ___ of the centromere occurs

A

splitting

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33
Q

occasionally, both chromosomes that were crossing over do not separate, and both migrate to the same cell

A

nondisjunction

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34
Q

an example of this type of abnormality in which three of chromosome 21 are found

A

down syndrome(trisomy 21)

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35
Q

essentially a mitotic division; each chromosome splits longitudinally

A

second meiosis

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36
Q

is there replication of dna in second meiosis

A

no

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37
Q

if this occurs during the second meiosis, a chromosome does not split, and one daughter cell has a full chromosome, and the other has none

A

nondisjunction

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38
Q

during the early period of embryonic development, the genetic activity of one of the x chromosomes in each cell of a female embryo is inactivated

A

lyon hypothesis

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39
Q

for lyon hypothesis, the inactivated chromosome forms a contracted structure known as a

A

barr body; appears as a dark dot at the periphery of the nucleus

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40
Q

contains the basic code or template that carries all genetic information

A

dna

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41
Q

the bases form chains that are coiled to form the double helix; a sequence of three bases is called

A

codon

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42
Q

a codon codes for

A

an amino acid

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43
Q

the basic unit of dna

A

nucleotide; a/t, g/c

44
Q

mitochondrial dna is ____ inherited; passed from mother to ____ regardless of sex

A

maternally ; offspring

45
Q

the genetic code contained in dna is transcribed into

A

rna

46
Q

is rna single strand?

A

yes

47
Q

t/f. uracil is for dna.

A

false- for RNA

48
Q

carries the message for the dna to ribosomes in the cytoplasm

A

messenger rna(mrna)

49
Q

transfers amino acids from cytoplasm to mrna

A

transfer rna(trna)

50
Q

what carries genetic code for the formation of that protein to the ribosome

A

mrna

51
Q

___ brings amino acids to the ribosomes from the cellular cytoplasm

A

trna

52
Q

the first 22 pairs of chromosomes are called the ____

A

autosomes

53
Q

the 23rd pair of chromosomes is called the

A

sex chromosomes that determine a persons gender

54
Q

the genes that are located at the same level(locus) in homologous chromosomes and that dictate the same functions of characteristics

A

alleles

55
Q

when allelic genes are _____ the person is homozygous for that gene

A

identical

56
Q

when genes are different, the person is ____ for that gene

A

heterozygous

57
Q

if a gene can express its effect clinically with a single dose, as in combination, it is _____

A

dominant

58
Q

if a gene requires a double dose to be expressed, the resulting characteristic or function is

A

recessive

59
Q

occur at dna level
not detectable microscopically
most inherited disorders are at the level of one or both allelic genes

A

molecular abnormalities

60
Q

can be observed in a karotype(a photographic representation of a persons chromosomal constitution

A

gross abnormalities

61
Q

a complete second set of chromosomes

A

euploid

62
Q

three or four complete sets of chromosomes

A

polypoid

63
Q

any extra number of chromosomes that do not represent an exact multiple of the total

A

aneuploid

64
Q

loss of part of chromosome

A

deletion

65
Q

a portion of chromosome attached to another chromosome

A

translocation

66
Q

a portion of a chromosome is upside down

A

inversion

67
Q

a chromosome is larger than normal; the extra segment is identical to a segment of a normal chromosome

A

duplication

68
Q

most frequent trisomy; down syndrome; slanted eyes; more than 30% have heart abnormalities

A

trisomy 21

69
Q

what kind of tongue is seen with downs

A

fissured ; and gingival and periodontal disease has been reported in 90% of individuals

70
Q

does downs have high caries

A

no, but high perio

71
Q

what are some abnormalities with downs associated with teeth

A

hypodontia, abnormally shaped teeth, anomalies in eruption with malposition and crowding of teeth

72
Q

a third chromosome of one type is present

A

trisomy

73
Q

one chromosome of a pair is absent

A

monosomy

74
Q

downs is a trisomy for chromosome ____

A

21

75
Q

characterized by multiple abnormalities in various organs

A

trisomy 13

76
Q

___ percent die within the first 7 mnths of life; nondisjunction of trisomy 13

A

70 percent

77
Q

characteristic facial and clinical finds of trisomy 13 include

A

bilateral cleft lip and palate and microphthalmia or anophthalmia

78
Q

female karyotype; usually only 1 x chromosome

A

turner syndrome

79
Q

turner syndrome – have clinically short stature with a __ of the neck and ___ of the hands and feet

A

webbing; edema

80
Q

with turner syndrome, smears have a lack of

A

barr bodies

81
Q

most cases of turner syndrome are the result of nondisjunction of the __ chromosome in the ___ gamete

A

x; paternal

82
Q

most are from nondisjunction of the X chromosome; got too many chromosomes; xxy or xxxy; male phenotype

A

klinefelter

83
Q

the greater the number of x chromosomes, the more pronounced are the __ __

A

clinical manifestations

84
Q

in which syndrome is the maxilla slightly hypoplastic/underdeveloped

A

klinefelter syndrome

85
Q

what abnormalities are caused by deletions

A

cri du chat

wolf-hirschhorn syndrome

86
Q

a deletion on the short arm of chromosome 5; cat-like cry at birth; mentally retarded

A

cri du chat syndrome

87
Q

a deletion on the short arm of chromosome 4; cleft palate and IQ <30

A

wolf-hirschhorn syndrome

88
Q

transmitted vertically from one generation to the next. males and females are equally affected; lack of penetrance may occur if an individual carries a gene without presenting any clinical manifestation

A

autosomal dominance inheritance

89
Q

refers to the number of individuals affected

A

penetrance

90
Q

pertains to the degree to which an individual is affected

A

expressivity

91
Q

for autosomal dominant inheritance, the risk of having an affected offspring is

A

50%

92
Q

individuals exhibiting an autosomal recessive trait must be homozygous for the gene

A

autosomal recessive

93
Q

a mathematical estimate of the probability of an event occuring

A

risk

94
Q

the chance of having deleterious genes in common increases

A

among close relatives

95
Q

a family relationship

A

consanguinity

96
Q

they may be either heterozygous or homo for a gene that is located on the X chromosome

A

women

97
Q

if a deletrious gene occurs on the x chromosome in a male, the condition or trait will be ____ clinically regardless of the dominant or recessive behavior, since men only have one x chromosome

A

seen

98
Q

if a woman is homozygotic for a dominant x linked condition, what happens

A

all offspring will be affected

99
Q

because the gene is dominant, only ___ of the genes is necessary for the condition to occur

A

one

100
Q

a mother who is a carrier for an x linked recessive trait has a __ risk of having an affected son and ___ risk for having a carrier daughter

A

5o%, 50%

101
Q

one of the x chromosomes in the female is genetically cancelled at an early stage in embryonic development

A

lyon hypothesis and x linked recessive traits

102
Q

the cancellation of the x afects x chromosomes from both maternal and paternal lines

A

lyon hypothesis

103
Q

used when a condition has more than one inheritance pattern as well as differences in the degree of clinical manifestations for each of the inherited varieties

A

genetic heterogeneity

104
Q

the person must be homozygous for the trait to be seen

A

recessive

105
Q

is blood type O recessive

A

yes

106
Q

characteristics or traits that are inherited by the participation of several genes; most physical characteristics are this; sometimes referred to as polygenic traits

A

oligogenic inheritance