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Genetics > Block 3 > Flashcards

Block 3 Flashcards

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1
Q

what reciprocal translocation causes chronic myelogenous leukemia

A

t(9;22)

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2
Q

what reciprocal translocation causes acute myelogenous leukemia

A

t(15;17)

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3
Q

what reciprocal translocation causes follicular lymphomas

A

t(14;18)

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4
Q

what reciprocal translocation causes Burkitt lymphoma

A

t(8;14)

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5
Q

what reciprocal translocation causes mantle cell lymphoma

A

t(11;14)

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6
Q

what is the deletion seen in Cri-du-chat

A

del5(p)

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7
Q

what is the microdeletion seen in DiGeorge’s syndrome

A

chromosome 22

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8
Q

what is the microdeletion seen in Wilms tumor

A

chromosome 11

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9
Q

what is the microdeletion seen in Williams syndrome

A

chromosome 7 (elastin gene)

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10
Q

what is the microdeletion seen in Prader-Willi and Angelman

A

chromosome 15

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11
Q

what are the symptoms of DiGeorge’s syndrome

A

Cardiac abnormality
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypocalcemia

*CATCH 22

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12
Q

what is the main symptoms of Wilms tumor

A

aniridia (absence of iris)

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13
Q

what is the main symptom of Williams syndrome

A

elfin facies

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14
Q

what is prevalence

A

the proportion of the population with the disease

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15
Q

what 4 factors increase recurrence risk

A

increase in the number of affected individuals
increase in severity of disease
increase in prevalence
less commonly affected gender displays the disease

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16
Q

what causes a decrease in prevalence

A

increased pedigree chart distance from the affected relative

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17
Q

monozygotic twin studies measure the concordance between __ and __

A

phenotype and environment

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18
Q

dizygotic twin studies measure the concordance between __ and __

A

genotype and environment

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19
Q

a larger difference between monozygotic and dizygotic concordance values indicates genetics or the environment plays a larger role in the trait

A

genetic

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20
Q

a smaller difference between monozygotic and dizygotic concordance values indicates genetics or the environment plays a larger role in the trait

A

environment

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21
Q

the recessive allele for blood type (i) has what type of mutation

A

frameshift (single base deletion)

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22
Q

is the antigen or the antibodies produced the same as the blood type

A

antigen

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23
Q

with blood typing, if coagulation occurs, what does this tell us

A

antigens are present for that antibody

ex: coagulation in the anti-A reaction indicated the blood type A proteins are present

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24
Q

what blood type is the universal donor

A

O-

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25
Q

what blood type is the universal acceptor

A

AB+

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26
Q

what is the genotype for blood type O

A

ii

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27
Q

what is the genotype for blood type A

A

IAIA or IAi

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28
Q

what is the genotype for blood type B

A

IBIB or IBi

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29
Q

what is the genotype for blood type AB

A

IAIB

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30
Q

what causes erythroblastosis fetalis

A

incorrect Rh factor exposure between fetus and mother

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31
Q

in what stage of the cell cycle does crossing over occur

A

prophase I of meiosis

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32
Q

is crossing over more likely or less likely when the distance between the genes is greater

A

greater distance between genes= higher frequency of crossing over

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33
Q

how do you determine percent recombination mathematically

A

(number of new recombinant gametes/total number of gametes) x 100

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34
Q

does crossing over only occur on linked or unlinked genes

A

linked

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35
Q

unlinked genes appear to have what percent recombination

A

50%

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36
Q

alleles that are linked and very far apart show __% recombination and appear to be unlinked

A

50

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37
Q

alleles that are linked and close (ex: 10cM) show __ recombination

A

10

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38
Q

alleles that are linked and very close (ex: 0.1cM) show __ recombination

A

1

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39
Q

from 2 heterozygous parents with unlinked genes, what is the probability that their offspring will be homozygous recessive for both traits

A

0.0625 (1/16)

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40
Q

from 2 heterozygous parents with linked genes, what is the probability that their offspring will be homozygous recessive for both traits

A

0.2025

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41
Q

if log of the odds (LOD) > 3.00, the alleles are linked or unlinked

A

linked

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42
Q

if log of the odds (LOD) < -2.00, the alleles are linked or unlinked

A

unlinked

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43
Q

direct genetic diagnosis involves determination of ___ while indirect involves use of __

A

sequence of a gene
genetic markers

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44
Q

what is epistasis

A

many genes lead to one effect

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45
Q

what are probes in direct genetic diagnosis used for

A

they’re complementary to the normal or mutant allele sequence so will bind when either is present

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46
Q

what chromosome number are alpha and alpha globin like genes on

A

16

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47
Q

what chromosome number are beta and beta globin like genes on

A

11

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48
Q

hemoglobin is always a __

A

tetramer

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49
Q

major adult hemoglobin (HbA) is made of what globin chains

A

2 alpha, 2 beta

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50
Q

fetal hemoglobin is made of what globin chains

A

2 alpha, 2 gamma

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51
Q

minor adult hemoglobin (HbA2) is made of what globin chains

A

2 alpha, 2 delta

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52
Q

what are the 3 hemoglobins that make up hemoglobin in the embryonic period

A

gower 1
gower 2
portland

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53
Q

what is an example of ordered regulation of developmental gene expression

A

globin switching

54
Q

during the first few weeks of development, hemoglobin is synthesized by what embryonic structure

A

yolk sac

55
Q

when in development is embryonic hemoglobin replaced by fetal hemoglobin

A

5th week of gestation

56
Q

at birth, HbF comprises __% of all hemoglobin in the term newborn

A

60-80

57
Q

HbF is synthesized in what organs

A

liver and spleen

58
Q

adult hemoglobin is synthesized where

A

bone marrow

59
Q

at __m gestation beta globin starts to increase, __ after birth beta still continues

A

6-8
6-8

60
Q

at approximately what age is HbF replaced by HbA

A

1 year

61
Q

what causes the gamma globin chain of HbF to decrease

A

increase in beta chain of HbA

62
Q

does HbF have a high or lower oxygen affinity for oxygen than HbA

A

higher

63
Q

HbA synthesis starts in the bone marrow at about __ months of pregnancy

A

8

64
Q

how does HbA1c differ from HbA

A

glucose attached to N-terminal valine of alpha globin chain

65
Q

hemoglobinopathies are characterized by __ or __

A

structural defects
quantity defects

66
Q

what type of inheritance is sickle cell anemia

A

autosomal recessive

67
Q

sickle cell anemia is caused by a __ mutation in what hemoglobin chain

A

missense (point)
beta

68
Q

sickle cell anemia occurs most commonly in what populations

A

african american

69
Q

what does it mean to say an individual has a sickle cell trait

A

they’re heterozygotes with one normal and one sickle cell gene (HbA and HbS)

70
Q

when do patients start showing symptoms of sickle cell anemia

A

when HbF has been replaced by HbS

71
Q

what is the amino acid substitution in HbS beta chain

A

glutamate (GAG) –> valine(GTG)

72
Q

what is the arrangement of sickle cell hemoglobin as opposed to normal hemoglobin

A

sickle cell shows clumped hemoglobin due to the change in amino acid type from hydrophilic to hydrophobic

73
Q

with sickle cell, the mutation seen in DNA is __–>__
with sickle cell, the mutation seen in RNA is __–>__

A

DNA= GAG–>GTG
RNA= GAG–>GUG

74
Q

what is a disorder that represents novel property mutation

A

sickle cell anemia

75
Q

what is the effect of sickle cells on blood flow

A

blocks the flow of blood in narrow capillaries

76
Q

what is the effect of decreased blood flow as a result of sickle RBC cells

A

anoxia (oxygen deprivation) in tissues–>pain

77
Q

what is the effect of the fragile structure of sickle cells

A

anemia (can break apart easily and die)

78
Q

what are 7 symptoms of sickle cell anemia

A

crises (episodes of pain due to blood flow blockage)
hemolytic anemia
hyperbilirubinemia
jaundice (increased hemolysis of RBC)
frequent infections (damage to spleen)
priapism (penis remains erect)
dactylitis

79
Q

what is the most common cause of priapism

A

sickle cell disease

80
Q

what is the treatment for sickle cell

A

bone marrow transplant

81
Q

what are the 2 main ways to treat symptoms of sickle cell

A

antibiotics to fight frequent infections
hydroxyurea to increase HbF which decreases RBC sickling

82
Q

heterozygotes for sickle cell are less susceptible to __ due to __

A

malaria
shorter half life

83
Q

what test can be used to diagnose sickle cell disease

A

gel electrophoresis

84
Q

besides gel electrophoresis, what other test can be performed to test for sickle cell disease using chorionic villus biopsy

A

restriction fragment length polymorphism

85
Q

what is the difference in the amino acid substitution in HbC as compared to HbS

A

HbC= glutamate–>lysine
HbS= glutamate–>valine

86
Q

patients homozygous for hemoglobin C generally have what kind of anemia symptoms

A

mild, chronic hemolytic anemia

87
Q

the change in amino acid for sickle cell (HbS) or chronic hemolytic anemia (HbC) is present on chromosome __ at position __

A

chromosome 11, position 6

88
Q

oxygen is carried by Fe in the __+ form (2+ or 3+)

A

2+

89
Q

in methemoglobinemias, Fe2+ is converted to Fe3+ which results in what effect on oxygen carrying

A

Fe3+ can’t bind oxygen

90
Q

what enzyme converts Fe3+ back to Fe2+

A

hemoglobin reductase

91
Q

what colored blood is seen with methemoglobinemia

A

chocolate-colored
accumulation of Fe3+–>oxygen deficiency for RBC

92
Q

what is the treatment for methemoglobinemias

A

methylene blue

93
Q

what causes HbE

A

impaired RNA splicing

94
Q

the HbE mutation creates what kind of splice site

A

abnormal cryptic

95
Q

what is thalassemia

A

inherited blood disorder that causes an imbalance of globin chains

96
Q

what type of interaction causes the sickle cell shape in sickle cell anemia due to the change in amino acid

A

hydrophobic

97
Q

beta thalassemia occurs due to absence or decrease in synthesis of what hemoglobin chain

A

beta

98
Q

beta thalassemia is what inheritance pattern

A

autosomal recessive

99
Q

what type of mutation is most common in beta thalassemia

A

point mutation in promotor region or splice site

100
Q

a splice site mutation is found in what 3 diseases

A

Gaucher
Tay-Sachs
beta thalassemia

101
Q

each chromosome has how many alpha and how many beta globin genes

A

2 alpha
1 beta

102
Q

since we have 2 copies of chromosome 11, how many alpha and how many beta genes do we have

A

4 alpha
2 beta

103
Q

another name for thalassemia minor is __

A

trait

104
Q

another name for beta thalassemia major is __

A

Cooley anemia

105
Q

beta thalassemia trait (beta thalassemia minor) occurs if how many beta globin genes are defective

A

one

106
Q

beta thalassemia major (Cooley anemia) occurs if how many beta globin gene are defective

A

2 (both)

107
Q

what is the Hb electrophoresis finding for someone with beta thalassemia minor/trait/carrier

A

increased HbA2 (2 alpha, 2 delta)

108
Q

what hemoglobin is increased and decreased in beta thalassemia major

A

increased= HbF and HbA2

no HbA

109
Q

what are the 5 main pathophysiology findings for beta thalassemia major

A

jaundice
hypoxia
enlargement of liver, spleen, and bones (increased erythropoiesis= hair end appearance on skull X-ray)
anemia/pallor (pale appearance)
chipmunk facies due to enlarged bone growth

110
Q

when is beta thalassemia major visible, why

A

approximately 6 months after birth

beta globin genes are not expressed until late fetal life

111
Q

what is the presentation progression for someone with beta thalassemia major

A

healthy at birth but become severly anemic

112
Q

what is the Hb electrophoresis results for someone with beta thalassemia major

A

decreased HbA
increased HbF and HbA2

113
Q

what is the difference between beta0 and beta+

A

beta-knot (beta0)= no HbA production

beta+= HbA is reduced

114
Q

what is the respresentation of beta thalassemia minor vs intermedia vs major

(beta/beta format)

A

minor= B/B+ or B/B0= heterozygous

intermedia= B+/B+ or B+/B0

major= B0/B0

115
Q

alpha thalassemias occur when there is a defect in what chain

A

alpha

116
Q

what type of inheritance pattern in alpha thalassemia

A

autosomal recessive

117
Q

what type of “mutation” is responsible for alpha thalassemia

A

large segment deletion with loss of function mutation due to unequal crossing over in prophase I of meiosis

118
Q

in terms of number of normal alpha globin genes, what is the difference between carrier, minor, hemoglobin H disease, and major

A

carrier= -1 alpha globin gene
minor= -2 alpha globin genes
hemoglobin H= -3 alpha globin genes
major= -4 alpha globin genes

119
Q

what is another name for alpha thalassemia major

A

hydrops fetalis

120
Q

what diagnosis is alphaalpha/alpha-

A

silent carrier

121
Q

what diagnosis is alpha-/alpha- or alphaalpha/- -

A

alpha thalassemia carrier (minor/trait)

122
Q

what diagnosis is alpha-/- -

A

hemoglobin H disease

123
Q

what diagnosis is –/– in terms of alpha thalassemias

A

alpha thalassemia major (hydrops fetalis)

124
Q

what causes hemoglobin H disease

A

only 1/4 alpha globin genes are present so there aren’t enough alpha globin chains to combine with beta globin chains

this results in excess beta-globin chains combining to form beta4 tetramers

125
Q

what causes Hb Bart

A

all 4 alpha-globin genes are defective, leading to a tetramer with only gamma globins (found in HbF)

126
Q

how does hemoglobin H differ from Hb Bart

A

in hemoglobin H there is a tetramer of beta globin

in Hb Barts there is a tetramer of gamma globin

127
Q

what is the alpha thalassemia which is incompatible with life

A

Hb Barts (alpha-thalassemia major/hydrops fetalis)

128
Q

what is the main symptom of hemoglobin H and Hb Barts

A

hypoxia

129
Q

mutations in beta globin gene affects __% of the beta chain

mutations in alpha globin gene affects __% of the alpha chain

A

beta= 50% (we have 2 beta)
alpha= 25% (we have 4 alpha)

130
Q

are alpha or beta thalassemias more severe

A

alpha

Genetics (4 decks)

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