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aa Orgo > 344 chapter 6 and 11 > Flashcards

344 chapter 6 and 11 Flashcards

1
Q

refers to different forms or DNA sequences that a gene may have in a population

A

allele

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2
Q

single gene defects follow the ___ pattern of inheritance

A

mendelian

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3
Q

when a person inherits a dominant mutant gene but fails to express it, the trait is described as having reduced

A

penetrance

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4
Q

autosomal dominant disorders also can display variable ___, meaning that they can be expressed differently by different people

A

variability

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5
Q

genetic disorder can be caused by a single gene (aka ___) or multiple genes (aka ___)

A

mendelian

polygenic

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6
Q

in single gene disorders the defective gene may by on an autosome or on the __ chromosome

A

autosome or X chromosome

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7
Q

single gene disorders may be expressed as a __ or __ trait

A

dominant or recessive

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8
Q

In an __ dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring

A

autosomal

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9
Q

In an autosomal dominant disorder, a single mutant allele from an affected parent is transmitted to an offspring regardless of

A

sex

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10
Q

In an autosomal dominant disorder, the affected parent has a __ % change of passing it to each child

A

50%

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11
Q

autosomal ___ disorders are manifested only when both members of the gene pair are affected

A

recessive

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12
Q

in autosomal ___ disorders, usually both parents are unaffected but are carries of the defective gene

A

recessive

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13
Q

in autosomal recessive disorders the chances of passing it to the child are

A

25%

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14
Q

sex linked disorders are associated with the __ chromosome

A

X

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15
Q

sex-linked disorders are those in which an unaffected mother carries one normal and one ___ allele on the X chromosome

A

mutant

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16
Q

in sex-linked disorders the mother has a 50% change of passing it to her sons and daughters. The sons are affected and the daughters are

A

carriers

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17
Q

an inherited form of mental retardation that results from a repeating sequence of 3 nucleotides

A

fragile X

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18
Q

because they have a high need for energy, the nervous system, heart, and muscles are effected in this disorder

A

mitochondrial DNA disorders

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19
Q

cleft lip is a m___ inheritance disorder

A

multifactorial

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20
Q

chromosomal disorders result from a change during

A

meiosis

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21
Q

a change in chromosome number

A

aneuploidy

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22
Q

the presence of only one member of a chromosome pair

A

monosomy

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23
Q

syndrome where there is monosomy in the X chromosome in a female

A

Turner Syndrome

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24
Q

refers to the presence of more than 2 chromosomes in a set, as occurs in Klinefelter Syndrome

A

polysomy

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25
Q

An example of Trisomy 21, which is the most common disorder of the autosomal chromosome

A

Down Syndrome

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26
Q

the baby’s most vulnerable time is 15 to __ days after conception

A

60

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27
Q

a deficiency in __ __ can contribute to neural tube defects

A

folic acid

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28
Q

deficiency in __ can cause congenital hypothyroidism and impaired neuro development

A

iodine

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29
Q

impaired neuro development is aka

A

cretinism

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30
Q

prenatal test, used for determining fetal size and position and for the presence of structural abnormalities

A

ultrasound

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31
Q

test used to assess down syndrome and neural tube defects

A

maternal blood screening

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32
Q

procedure used to obtain specimens for study

A

amniocentesis, chorionic villus sampling, precutaneous umbical blood sampling

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33
Q

the hematopoietic system consists of the different types of blood cells generated from the __ stem cells

A

pluripotent

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34
Q

the pluripotent stem cells in the __ marrow

A

bone marrow

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35
Q

the development of the different kinds of blood cells is supported by growth factors, chemical mediators, and __ __ factors

A

colony stimulating factors

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36
Q

WBC arise from m___ stem cells

A

myeloid

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37
Q

the paracortex (area between the medullary and outer superficial cortices) of the lymph node contains

A

t cells

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38
Q

b cells are in which part of the lymph node

A

cortex

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39
Q

the __ follicles in lymph nodes have active germinal centers

A

secondary

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40
Q

neoplastic disorders of hematopoietic and lymphoid origin include the leukemias, lymphomas, and multiple ___

A

myeloma

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41
Q

a malignant neoplasm arising from the transformation of a single blood cell line

A

leukemia

42
Q

leukemia involves hematopoietic stem cells in the __ __

A

bone marrow

43
Q

because leukemic cells are immature and poorly differentiated, they multiply quickly and have a __ life span

A

long

44
Q

messed up kind of cell that interferes with the maturation of normal blood cells, cross the BBB, and infiltrate organs

A

leukemic cells

45
Q

leukemias are classified according to their cell type, ___ or ___ and according to whether it’s acute or chronic

A

lymphocytic or myelocytic

46
Q

The ___ leukemias involve immature lymphocytes and their progenitors that originate in the bone marrow but infiltrate other tissue

A

lymphocytic leukemias

47
Q

The ___ leukemias involve the pluripotent myeloid stem cells in the bone marrow and interfere with the maturation of all blood cells

A

myelogenous

48
Q

__ leukemias have a sudden and stormy onset

A

acute leukemias

49
Q

symptoms of depressed bone marrow function, bone pain, splenomegaly, hepatomegaly

A

acute leukemias

50
Q

__ leukemia, mostly affects adults and has an insidious onset

A

chronic

51
Q

malignant neoplasms that arise in the peripheral lymphoid tissues

A

non-hodgkin and hodgkin lymphoma

52
Q

lymphoma that originates in the lymph nodes, is multicentric in origin and spread early to various tissue (esp liver, spleen, and bone marrow)

A

non-hodgkin lymphoma

53
Q

a group of cancers characterized by Reed-Sternberg cells that begins as a malignancy in a single lymph node and then spreads to contiguous lymph nodes

A

hodgkin lymphoma

54
Q

both types of lymphomas are characterized by manifestations related to uncontrolled lymph node and lymphoid tissue growth, bone marrow involvement, fever, fatigue, weight loss

A

hodgkin and non-hodgkin

55
Q

a plasma cell dyscrasia characterized by expansion of a single clone of Ig-producing plasma cells and a resultant increase in serum levels of a single monoclonol Ig

A

multiple myeloma

56
Q

the main sites involved in multiple myeloma are the __ and bone marrow

A

bone

57
Q

in multiple myeloma, in addition to the abnormal proliferation of marrow plasma cells, there is activation of __ which leads to bone reabsorption

A

osteoclasts

58
Q

because of increased osteoclast activity, there’s increased risk for fractures and hypercalcium in this disease

A

multiple myeloma

59
Q

in this disease, you can have hyperviscosity causing heart failure and neuropathy

A

multiple myeloma

60
Q

Marfan syndrome is what type of disorder

A

autosomal dominant

61
Q

syndrome where the fibers of the heart valves and blood vessels are impaired

A

Marfan syndrome

62
Q

myopia, skeletal deformities (chest and spine) long arms, hyper flexible, heart valve/blood vessel problems

A

marfan syndrome

63
Q

neurofibromatosis is what type of disorder

A

autosomal dominant

64
Q

disorder where tumors arise is schwann cells and the rest of the peripheral nervous system

A

neurofibromatosis

65
Q

subcutaneous lesions, large tumors, cafe au lait spots, scoliosis, facial disfigurement, overgrowth of a limb, learning disability, abnormal speech

A

neurofibromatosis

66
Q

phenylketonuria (PKU) is what kind of disorder

A

autosomal recessive

67
Q

Tay-Sachs disease is what kind of disorder

A

autosomal recessive

68
Q

disease where the lysosomes don’t work properly

A

tay-sachs

69
Q

signs of impaired brain, seizures, decreased pigment, eczema, retardation

A

PKU

70
Q

progressive destruction of neurons in the brain and retina

A

tay-sachs

71
Q

infants have progressive weakness, decreased mental function, seizures, poor vision, death at 4 to 5 years old

A

tay-sachs

72
Q

analysis of blood for the enzyme hexosamidase can show that someone is a genetic carrier for this disease (if they are low in the enzyme)

A

tay-sachs

73
Q

intellectual disability, large face, mitral valve prolapse

A

fragile x syndrome

74
Q

cleft palate is what kind of disorder

A

multifactorial inheritance

75
Q

mitotic errors during cleavage of the fertilized ovum or in somatic cells give rise to 2 or more cell lines characterized by distinctive kryoptypes

A

mosaicism

76
Q

women: short stature but normal body proportions, no ovaries or secondary sex characteristics, heart problems, neck web

A

Turner syndrome

77
Q

men: testicular dysgenesis, extra X chromosome, tall, feminine traits

A

klinefelter syndrome

78
Q

a decrease in the absolute number of leukocytes in the blood

A

leukopenia

79
Q

in __ anemia, all the myeloid stem cells are affected, resulting in anemia, lack of thrombocytes, lack of neutrophils

A

aplastic anemia

80
Q

severe congenital neutropenia

A

kostmann syndrome

81
Q

primary pathogen-fighting cells

A

Neutrophils

82
Q

help control allergic responses; fight parasites

A

Eosinophils

83
Q

release heparin, histamine, and other inflammatory mediators

A

Basophils

84
Q

Mutation of myeloid cell line results in ___ ___

A

Myelocytic Leukemias

85
Q

Overproduction of abnormal monocytes or granulocytes is associated with ___ Leukemias

A

Myelocytic Leukemias

86
Q

in Hodgkin lymphoma, Malignant _ cells invade lymphoid organs

A

B

87
Q

Myeloma is characterized by abnormal __ cells that can form tumors

A

B

88
Q

X or Y chromosome

A

sex-linked

89
Q

Other chromosomes besides X or Y

A

autosomal

90
Q

In this disorder a single mutant allele from an affected parent is transmitted to an offspring regardless of sex

A

Autosomal Dominant

91
Q

If all your copies of a gene (alleles) are alike, you are

A

homozygous

92
Q

If your copies of a gene (alleles) are different you are

A

heterozygous

93
Q

If you have only one copy of a gene, you are

A

hemizygous

94
Q

If you have the allele with intermediate penetrance for a trait, do you display the trait?

A

sometimes

95
Q

chromosomal damage, occurs when there are simultaneous breaks in 2 chromosomes from different pairs, with exchanging of chromosome parts.

A

translocation

96
Q

chromosomal damage, occurs when the chromosome separates horizontally instead of vertically

A

isochromosome

97
Q

the only type of chromosome damage where the child is still normal because no DNA was actually lost

A

translocation

98
Q

a chance in the number of chromosomes

A

aneuploidy

99
Q

the presence of only 1 member of a pair of chromosomes

A

monosomy

100
Q

fragile x syndrome involves ___ disability

A

intellectual

101
Q

the mitochondrial myopathies are often associated with the so called __ __ fibers

A

ragged red

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