multiple choice Flashcards

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1
Q

define recessive genetic disorders.

A

when the individual is homozygous recessive for the trait.

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2
Q

what is the cause of cystic fibrosis?

A

-gene that code for a membrane’s protein is defective.
-caused by recessive allel.

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3
Q

what does cystic fibrosis affect?

A

-excessive mucus production.
-digestive and respiratory failure.

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4
Q

what happens to chloride ions of a person with cystic fibrosis? what happens to the mucus if there is no sufficient chloride ions?

A

-not absorbed but excreted in sweat
-thick mucus is secreted

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5
Q

what is the cause of albinism?

A

caused by multiple genes, resulting in the absence of skin pigment melanin in hair and eyes.

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6
Q

characteristics of person with albinism.

A

-white hair
-very plae skin
-pink pupils

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7
Q

what is the cause of tay-sachs disease?

A

caused by the absence of the enzymes responsible for breaking down fatty acids.

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8
Q

what do you call the enzymes that are responsible for breaking down fatty acids?

A

gangliosides.

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9
Q

what is galactosemia?

A

recessive genetic disorder characterized by the inability of the body to digest galactose.

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10
Q

what are the other affect of albinism?

A

-skin suspectible for UV damage.
-vision problems

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11
Q

what are the affects of galactosemia?

A

-mental disabilities
-enlarged liver
-kidney failure

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12
Q

what are the affects of tay-sachs disease?

A

-buildup of fatty deposits in the brain
-mental disabilities

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13
Q

what are the cure/treatment for cystic fibrosis?

A

-no cure
-daily cleaning of mucus from the lungs
-mucus-thinning drugs
-pancreatic enzyme supplements

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14
Q

what are the cure/treatment for albinism?

A

-no cure
-protect skin from the sun and other environmental factors
-visual rehabilitation

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15
Q

what are the cure/treatment for galactosemia?

A

-no cure
-restriction of lactose/galactose in the diet

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16
Q

what are the cure/treatment for tay-sachs disease?

A

-no cure
-death by age 5

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17
Q

what are the two dominant genetic disorders?

A

-huntington’s disease
-achondroplasia

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18
Q

what is the cause of huntington’s diseae?

A

gene affecting neurological function is defective.

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19
Q

what is the cause of achondroplasia?

A

-gene that affects bone growth is abnormal.

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20
Q

what are the affects of huntington’s disease?

A

-decline of mental and neurological functions
-ability to move deteriorates.

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21
Q

what are the affect of achondroplasia?

A

-short arms and legs
-large head

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22
Q

what are the cure/treatment for the two dominant genetic disorders?

A

-both of them does not have cure nor treatment

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23
Q

define pedigrees?

A

diagram that traces the inheritance of a particular trait through several generations.

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24
Q

define incomplete dominance.

A

heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes.

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25
Q

in incomplete dominance, there are no dominant or recessive alleles. Uppercase letters are not used to represent alleles. Instead, it is used in..?

A

superscripts

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26
Q

define codominance.

A

both alleles are expressed in the heterozygous condition.

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27
Q

what disease is an example of codominance?

A

sickle-cell disease

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28
Q

what is sickle-cell disease?

A

-changes in hemoglobin cause red blood cells to change to a sickle-shaped cells

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29
Q

define multiple alleles.

A

blood groups in humans (ABO blood groups have three forms of alleles)

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30
Q

in coat color of rabbits what is demonstrated in their heirarchy of dominance.

A

multiple alleles.

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31
Q

what are the four alleles code for coat color?

A

C>C^ch>c^h>c

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32
Q

what is epistasis?

A

variety of result of one allele hiding the effects of another allele.

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33
Q

what is sex determination?

A

sex chromosomes determine an individual’s gender.

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34
Q

what chromosome carries a variety of genes that are necessary for the development of both females and males?

A

X chromosome

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35
Q

one chromosome is inactived in each cell and that inactivated chromosome is visible in stained cells as a barr body.

A

X chromosome in females.

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36
Q

Y chromosome mainly has genes that relate to the development of what gender characteristics?

A

male

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37
Q

define polygenic traits.

A

-it arise from the interaction of multiple pairs of genes.

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38
Q

how many genes are controlling the traits?

A

two or more

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39
Q

an additive effect of two or more gene loci on a what?

A

single phenotypic character.

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40
Q

what are the environmental influences of an organism’s phenotype?

A

-diet and exercise
-sunlight and water
-temperature

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41
Q

gene expression can be influenced by?

A

-the activity of other genes
-the environment both inside (hormone changes associated with adulthood) and outside (enable organism to adjust to environmental changes) the organism

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42
Q

in twin studies, traits that appear frequently in identical twins are atleast partially controlled by?

A

heredity

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43
Q

in twin studies, traits expressed differently in identical twins are strongly influenced by?

A

environment

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44
Q

what is karyotype/karyotyping?

A

-micrograph in which the paurs of homologous chromosomes are arranged in decreasing size.

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45
Q

images of chromosomes stained during?

A

metaphase

46
Q

chromosomes are arranged decreasing sized to produce?

A

micrograph

47
Q

what is telomeres?

A

serves a protective function for the structure of the chromosome

48
Q

telomere caps are consist of?

A

DNA associated with proteins

49
Q

what is non-disjunction?

A

cell division in which sister chromatids failed to separate.

50
Q

what is the chromosome theory of inheritance?

A

genes (material of inheritance) are carried by the chromosomes.

51
Q

what is linked genes?

A

genes that are on the same chromosomes

52
Q

the only way that genes on the same chromosomes do not get inherited together is because of…

A

gene recombination during crossing-over (prophase I) of meiosis

53
Q

what is genetic recombination??

A

shuffling of genes into new combinations by crossing over

54
Q

what is recombinant?

A

an organism or chromosome with a recombined set of genes

55
Q

what is genetic map?

A

an ordered list of genes along a particular chromosome

56
Q

what is genetic mapping?

A

locating genes on chromosomes (locate these genes by studying recombination)

57
Q

how many autosomes we have?

A

22 pairs of autosomes (44)

58
Q

what is sex chromosomes?

A

sex determining chromosomes

59
Q

what is sex-linked genes?

A

genes found on the X or Y chromosome

60
Q

what is sex-linked traits?

A

traits that are determined by the sex chromosomes

61
Q

the genes for sex linked traits are carried on..

A

the X chromosome

62
Q

any gene on the X chromosome of a male is expressed in the…

A

phenotype of the offspring

63
Q

in males, where does the X chromosome comes from?

A

their mother

64
Q

what is colour blindness?

A

sex-linked disorder; inability to distinguish between certain colors.

65
Q

what chromosome is the genes for color vision is from?

A

X chromosome

66
Q

red-green color blindness results from…

A

recessive gene only found in the X chromosome.

67
Q

what sex-linked disorder is where males cannot be a carrier even he is diagnosed or not?

A

Hemophilia

68
Q

what is hemophilia?

A

when blood does not clot properly that causes excessive bleeding even after a minor injury

69
Q

hemophilia is also called as?

A

royal’s disease

70
Q

hemophilia is caused by?

A

a recessive gene located on the X chromosome

71
Q

females inherit X-linked traits from?

A

both parents

72
Q

define autosomal traits.

A

traits that are expressed in only one sex

73
Q

define sex-limited genes.

A

carried by both male and female but are activated by the hormones of one sex.

74
Q

sex-limited traits caused the..

A

development of male and female sexual structures and characteristics.

75
Q

traits are expressed in both sexes, but they are expressed differently.

A

sex-influenced traits

76
Q

this chromosomal disorder is the result of an extra chromosome 21.

A

down syndrome (trisomy 21)

77
Q

characteristics of person with down syndrome

A

-almond-shaped eyes
-enlarged tongues
-bodies are short and stocky
-muscle development and coordination are often poor
-prone to heart defects

78
Q

common cause of trisomy 21?

A

age of the mother

79
Q

this chromosomal disorder is also a trisomy condition and extra X chromosome in male.

A

Klinefelter syndrome (XXY)

80
Q

charactristics of person with Klinefelter syndrome

A

-underdeveloped testes, usually sterile, fail to develop normal characteristics.
-may cause feminine characteristics (breasts, body shape)
-long arms and legs, and below average intelligence

81
Q

frequency correlation of Klinefelter syndrome

A

1/2000 live births

82
Q

this chromosomal disorder is when only one X chromosome and no other sex chromosome (45 chromosomes)

A

Turner syndrome (monoosomy x)

83
Q

turner syndrome is classified as…

A

female

84
Q

characteristics of person with turner syndrome.

A

-fail to develop sexually and are sterile (no functional ovaries)
-females (XO) have normal intelligence, short and stature and webs of skin from neck and shoulders

85
Q

how many people are diagnosed with turner’s in live birth.

A

1/5000

86
Q

this disorders are when a lethal gene causes death

A

genetic syndrome

87
Q

this genetic disorder is common in mostly african-american

A

sickle cell anemia

88
Q

sickle cell anemia occurs when…

A

oxygen supply of red blood cells is low (blood cannot carry enough oxygen)

89
Q

what is the treatment for sickle cell anemia?

A

chemicals for red blood cells to return to normal shape

90
Q

people with ______ traits are carriers.

A

heterozygous

91
Q

galactosemia is caused by

A

recessive allele

92
Q

PKU (PHENYLKETENURIA) is caused by…

A

recessive allele

93
Q

what does PKU builds up and causes?

A

brain damage

94
Q

how is PKU detected and prevented?

A

detected through urine test and can be prevented by special diet early in life

95
Q

tay-sachs is common in

A

central european ancestry

96
Q

death in tay-sachs is usually by age?

A

2 or 3

97
Q

cystic fibrosis is common in..

A

caucasians

98
Q

when cystic fibrosis is untreated, the person is most likely to die at age??

A

5 or before age 5

99
Q

in what age does the symptoms for huntington’s disease appear?

A

40

100
Q

the death of a person diagnosed with huntington’s is within how many years after diagnosis?

A

20

101
Q

huntington’s disease is caused by..

A

gene on chromosome 4

102
Q

what is lethal dominant alleles?

A

often the result of new mutations in a gene of the gamete that subsequently kill the developing offspring.

103
Q

what is lethal recessive alleles?

A

passed from generation to generation by the reproduction of heterozygous carriers who have normal phenotypes.

104
Q

what are the causes of mutations?

A

chemicals and radiation

105
Q

what is mutagens?

A

substances that cause mutations

106
Q

what is ultrasonography?

A

-sound waves echo from various tissues
-reflected sound waves create video image of fetus
-fetal position and anatomy are seen

107
Q

what is amniocentesis?

A

-fluid analyzed for the presence/absence of certain chemicals to detect genetic diseases
-chromosomes mutations detected by creating karyotypes of chromosomes

108
Q

what are the ethical issues surrounding amniocentesis?

A

-risk of injuring fetus
-causes miscarriage,send into false labor
diagnosis of diseases or disorders might have some parents considering abortion

109
Q

what is fetoscopy?

A

direct observation of the fetus surrounding tissues

110
Q

what is inserted through a small incision in mother’s abdomen?

A

endoscope