Block 3 Flashcards
(130 cards)
1
Q
what reciprocal translocation causes chronic myelogenous leukemia
A
t(9;22)
2
Q
what reciprocal translocation causes acute myelogenous leukemia
A
t(15;17)
3
Q
what reciprocal translocation causes follicular lymphomas
A
t(14;18)
4
Q
what reciprocal translocation causes Burkitt lymphoma
A
t(8;14)
5
Q
what reciprocal translocation causes mantle cell lymphoma
A
t(11;14)
6
Q
what is the deletion seen in Cri-du-chat
A
del5(p)
7
Q
what is the microdeletion seen in DiGeorge’s syndrome
A
chromosome 22
8
Q
what is the microdeletion seen in Wilms tumor
A
chromosome 11
9
Q
what is the microdeletion seen in Williams syndrome
A
chromosome 7 (elastin gene)
10
Q
what is the microdeletion seen in Prader-Willi and Angelman
A
chromosome 15
11
Q
what are the symptoms of DiGeorge’s syndrome
A
Cardiac abnormality
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypocalcemia
*CATCH 22
12
Q
what is the main symptoms of Wilms tumor
A
aniridia (absence of iris)
13
Q
what is the main symptom of Williams syndrome
A
elfin facies
14
Q
what is prevalence
A
the proportion of the population with the disease
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
16
Q
what causes a decrease in prevalence
A
increased pedigree chart distance from the affected relative
17
Q
monozygotic twin studies measure the concordance between __ and __
A
phenotype and environment
18
Q
dizygotic twin studies measure the concordance between __ and __
A
genotype and environment
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
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
21
Q
the recessive allele for blood type (i) has what type of mutation
A
frameshift (single base deletion)
22
Q
is the antigen or the antibodies produced the same as the blood type
A
antigen
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
24
Q
what blood type is the universal donor
A
O-
25
what blood type is the universal acceptor
AB+
26
what is the genotype for blood type O
ii
27
what is the genotype for blood type A
IAIA or IAi
28
what is the genotype for blood type B
IBIB or IBi
29
what is the genotype for blood type AB
IAIB
30
what causes erythroblastosis fetalis
incorrect Rh factor exposure between fetus and mother
31
in what stage of the cell cycle does crossing over occur
prophase I of meiosis
32
is crossing over more likely or less likely when the distance between the genes is greater
greater distance between genes= higher frequency of crossing over
33
how do you determine percent recombination mathematically
(number of new recombinant gametes/total number of gametes) x 100
34
does crossing over only occur on linked or unlinked genes
linked
35
unlinked genes appear to have what percent recombination
50%
36
alleles that are linked and very far apart show __% recombination and appear to be unlinked
50
37
alleles that are linked and close (ex: 10cM) show __ recombination
10
38
alleles that are linked and very close (ex: 0.1cM) show __ recombination
1
39
from 2 heterozygous parents with unlinked genes, what is the probability that their offspring will be homozygous recessive for both traits
0.0625 (1/16)
40
from 2 heterozygous parents with linked genes, what is the probability that their offspring will be homozygous recessive for both traits
0.2025
41
if log of the odds (LOD) > 3.00, the alleles are linked or unlinked
linked
42
if log of the odds (LOD) < -2.00, the alleles are linked or unlinked
unlinked
43
direct genetic diagnosis involves determination of ___ while indirect involves use of __
sequence of a gene
genetic markers
44
what is epistasis
many genes lead to one effect
45
what are probes in direct genetic diagnosis used for
they're complementary to the normal or mutant allele sequence so will bind when either is present
46
what chromosome number are alpha and alpha globin like genes on
16
47
what chromosome number are beta and beta globin like genes on
11
48
hemoglobin is always a __
tetramer
49
major adult hemoglobin (HbA) is made of what globin chains
2 alpha, 2 beta
50
fetal hemoglobin is made of what globin chains
2 alpha, 2 gamma
51
minor adult hemoglobin (HbA2) is made of what globin chains
2 alpha, 2 delta
52
what are the 3 hemoglobins that make up hemoglobin in the embryonic period
gower 1
gower 2
portland
53
what is an example of ordered regulation of developmental gene expression
globin switching
54
during the first few weeks of development, hemoglobin is synthesized by what embryonic structure
yolk sac
55
when in development is embryonic hemoglobin replaced by fetal hemoglobin
5th week of gestation
56
at birth, HbF comprises __% of all hemoglobin in the term newborn
60-80
57
HbF is synthesized in what organs
liver and spleen
58
adult hemoglobin is synthesized where
bone marrow
59
at __m gestation beta globin starts to increase, __ after birth beta still continues
6-8
6-8
60
at approximately what age is HbF replaced by HbA
1 year
61
what causes the gamma globin chain of HbF to decrease
increase in beta chain of HbA
62
does HbF have a high or lower oxygen affinity for oxygen than HbA
higher
63
HbA synthesis starts in the bone marrow at about __ months of pregnancy
8
64
how does HbA1c differ from HbA
glucose attached to N-terminal valine of alpha globin chain
65
hemoglobinopathies are characterized by __ or __
structural defects
quantity defects
66
what type of inheritance is sickle cell anemia
autosomal recessive
67
sickle cell anemia is caused by a __ mutation in what hemoglobin chain
missense (point)
beta
68
sickle cell anemia occurs most commonly in what populations
african american
69
what does it mean to say an individual has a sickle cell trait
they're heterozygotes with one normal and one sickle cell gene (HbA and HbS)
70
when do patients start showing symptoms of sickle cell anemia
when HbF has been replaced by HbS
71
what is the amino acid substitution in HbS beta chain
glutamate (GAG) --> valine(GTG)
72
what is the arrangement of sickle cell hemoglobin as opposed to normal hemoglobin
sickle cell shows clumped hemoglobin due to the change in amino acid type from hydrophilic to hydrophobic
73
with sickle cell, the mutation seen in DNA is __-->__
with sickle cell, the mutation seen in RNA is __-->__
DNA= GAG-->GTG
RNA= GAG-->GUG
74
what is a disorder that represents novel property mutation
sickle cell anemia
75
what is the effect of sickle cells on blood flow
blocks the flow of blood in narrow capillaries
76
what is the effect of decreased blood flow as a result of sickle RBC cells
anoxia (oxygen deprivation) in tissues-->pain
77
what is the effect of the fragile structure of sickle cells
anemia (can break apart easily and die)
78
what are 7 symptoms of sickle cell anemia
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
what is the most common cause of priapism
sickle cell disease
80
what is the treatment for sickle cell
bone marrow transplant
81
what are the 2 main ways to treat symptoms of sickle cell
antibiotics to fight frequent infections
hydroxyurea to increase HbF which decreases RBC sickling
82
heterozygotes for sickle cell are less susceptible to __ due to __
malaria
shorter half life
83
what test can be used to diagnose sickle cell disease
gel electrophoresis
84
besides gel electrophoresis, what other test can be performed to test for sickle cell disease using chorionic villus biopsy
restriction fragment length polymorphism
85
what is the difference in the amino acid substitution in HbC as compared to HbS
HbC= glutamate-->lysine
HbS= glutamate-->valine
86
patients homozygous for hemoglobin C generally have what kind of anemia symptoms
mild, chronic hemolytic anemia
87
the change in amino acid for sickle cell (HbS) or chronic hemolytic anemia (HbC) is present on chromosome __ at position __
chromosome 11, position 6
88
oxygen is carried by Fe in the __+ form (2+ or 3+)
2+
89
in methemoglobinemias, Fe2+ is converted to Fe3+ which results in what effect on oxygen carrying
Fe3+ can't bind oxygen
90
what enzyme converts Fe3+ back to Fe2+
hemoglobin reductase
91
what colored blood is seen with methemoglobinemia
chocolate-colored
accumulation of Fe3+-->oxygen deficiency for RBC
92
what is the treatment for methemoglobinemias
methylene blue
93
what causes HbE
impaired RNA splicing
94
the HbE mutation creates what kind of splice site
abnormal cryptic
95
what is thalassemia
inherited blood disorder that causes an imbalance of globin chains
96
what type of interaction causes the sickle cell shape in sickle cell anemia due to the change in amino acid
hydrophobic
97
beta thalassemia occurs due to absence or decrease in synthesis of what hemoglobin chain
beta
98
beta thalassemia is what inheritance pattern
autosomal recessive
99
what type of mutation is most common in beta thalassemia
point mutation in promotor region or splice site
100
a splice site mutation is found in what 3 diseases
Gaucher
Tay-Sachs
beta thalassemia
101
each chromosome has how many alpha and how many beta globin genes
2 alpha
1 beta
102
since we have 2 copies of chromosome 11, how many alpha and how many beta genes do we have
4 alpha
2 beta
103
another name for thalassemia minor is __
trait
104
another name for beta thalassemia major is __
Cooley anemia
105
beta thalassemia trait (beta thalassemia minor) occurs if how many beta globin genes are defective
one
106
beta thalassemia major (Cooley anemia) occurs if how many beta globin gene are defective
2 (both)
107
what is the Hb electrophoresis finding for someone with beta thalassemia minor/trait/carrier
increased HbA2 (2 alpha, 2 delta)
108
what hemoglobin is increased and decreased in beta thalassemia major
increased= HbF and HbA2
no HbA
109
what are the 5 main pathophysiology findings for beta thalassemia major
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
when is beta thalassemia major visible, why
approximately 6 months after birth
beta globin genes are not expressed until late fetal life
111
what is the presentation progression for someone with beta thalassemia major
healthy at birth but become severly anemic
112
what is the Hb electrophoresis results for someone with beta thalassemia major
decreased HbA
increased HbF and HbA2
113
what is the difference between beta0 and beta+
beta-knot (beta0)= no HbA production
beta+= HbA is reduced
114
what is the respresentation of beta thalassemia minor vs intermedia vs major
(beta/beta format)
minor= B/B+ or B/B0= heterozygous
intermedia= B+/B+ or B+/B0
major= B0/B0
115
alpha thalassemias occur when there is a defect in what chain
alpha
116
what type of inheritance pattern in alpha thalassemia
autosomal recessive
117
what type of "mutation" is responsible for alpha thalassemia
large segment deletion with loss of function mutation due to unequal crossing over in prophase I of meiosis
118
in terms of number of normal alpha globin genes, what is the difference between carrier, minor, hemoglobin H disease, and major
carrier= -1 alpha globin gene
minor= -2 alpha globin genes
hemoglobin H= -3 alpha globin genes
major= -4 alpha globin genes
119
what is another name for alpha thalassemia major
hydrops fetalis
120
what diagnosis is alphaalpha/alpha-
silent carrier
121
what diagnosis is alpha-/alpha- or alphaalpha/- -
alpha thalassemia carrier (minor/trait)
122
what diagnosis is alpha-/- -
hemoglobin H disease
123
what diagnosis is --/-- in terms of alpha thalassemias
alpha thalassemia major (hydrops fetalis)
124
what causes hemoglobin H disease
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
what causes Hb Bart
all 4 alpha-globin genes are defective, leading to a tetramer with only gamma globins (found in HbF)
126
how does hemoglobin H differ from Hb Bart
in hemoglobin H there is a tetramer of beta globin
in Hb Barts there is a tetramer of gamma globin
127
what is the alpha thalassemia which is incompatible with life
Hb Barts (alpha-thalassemia major/hydrops fetalis)
128
what is the main symptom of hemoglobin H and Hb Barts
hypoxia
129
mutations in beta globin gene affects __% of the beta chain
mutations in alpha globin gene affects __% of the alpha chain
beta= 50% (we have 2 beta)
alpha= 25% (we have 4 alpha)
130
are alpha or beta thalassemias more severe
alpha
