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B3 Clinical Application > B3 SFM > Flashcards

B3 SFM Flashcards

1
Q

klinefelter syndrome

A

47, XXY
male hypogonadism
tall stature
lack of secondary male sex (lack of testosterone), decreased spermatogenesis
elevated LH and FSH

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2
Q

down syndrome

A

trisomy 21
oblique palpebral fissures
flat nasal bridge
low set ear
protrude tongue
epicanthal fold
brushfield spots
simian crease on palm

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3
Q

Edward syndrome

A

Trisomy 18
prominent occiput, receded jaw
mental retard, severe heart defect, clenched fists, rocker bottom feet

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4
Q

patau syndrome

A

Trisomy 13
severe mental retardation, heart,& urogenital defect
microcephaly, polydactyly rocker bottom feet
most die 6 months
increase occurance with increased mom age

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5
Q

xxx syndrome

A

unusually tall, trisomy X
learning difficulty, increase muscle tone, seizure, kidne problem, fertile
non-disjunction, random

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6
Q

xyy syndrome

A

increased growth velocity
normal intelligence & fertility
random, nondisjunction of meiosis II
*their kids can have big problems

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7
Q

turner syndrome

A

45, X primary hypogonadism
develop lymph edema/webbing of neck
streak ovaries (accelerated loss oocyte - amonrrhea)
preductal coarctation of bicupsid aortic valve
SHOX gene gives short stature
decrease estrogen
no breast
lots develop hypothyroid

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8
Q

cri-du-chat syndrome

A

monosomy 5p (terminal deletion)
mental retardation, microcephaly, wide set eyes, cardiac defect (ventricular/atrial septal defect)

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9
Q

DiGeorge syndrome

A

22Q deletion syndrome, autosomal dominant
CATCH 22
Cardiac defect (aortic arch, conotruncal)
Abnormal faces
Thymic hypoplasia (recurrent infections, issue with T cell mediated response)
Cleft lip/palate
Hypocalcemia (defect parathyroid glands)

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10
Q

williams syndrome

A

deletion of 7 chromosome long arm 11.23
hypothyroidism, hypercalcemia, intellectual disability, supravalvar aortic stenosis (cardiac defect)

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11
Q

swyer syndrome

A

46 chromosomes, XY, loss of fxn/deletion mutation of sex determination region
Gonadal dysgenesis
have breast and uterus, no ovaries

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12
Q

leydig cell agenesis

A

46 chromosomes, XY, decreased leutenixing hormone receptors
will have breast, no uterus, no ovaries

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13
Q

androgen insensitive syndrome

A

46 chromosomes, XY,
decreased androgen receptors
will have breast but no uterus, no ovaries

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14
Q

Trisomy 21 associated conditions

A

hypothyroidism
Congenital heart disease (ventricular septal defect)
GI (duodenal atresia)
increase risk leukemia
95% due to trisomy 21 nondisjunction with maternal age

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15
Q

NF1

A

Neurofibromatosis, Type I
mutation in GAP protein (Ras doesn’t get truned off = excess growth)
begnign, fleshy tumors
cafe-au-lait spots
Lisch nodules in iris
100% penetrance, autosomal dominant

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16
Q

FH

A

Familial hypercholesterolemia
LDL receptor deficiency (decreased number or inefficeint ldl remmoval)
autosomal dominant mutation in PCSK9 gene

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17
Q

HD

A

Huntington disease
40% penetrance
both hetero and homo same effect
Autosomal dominant mutation on HTT of chromosome 4
CAG repeat
break down neurons in brain

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18
Q

DM

A

myotonic dystrophy
both hetero and homo same effect
autosomal dominant mutation of DMPK or CNBP genes (cell communication)

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19
Q

MFS

A

Marfan syndrome
autosomal dominant FBN1 mutation on chromosome 15
tall and thin people as issue with connective tissue
100% penetrance

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20
Q

AIP

A

acute intermittent polyphoria
autosomal dominant on HMBS gene of chromosome 11
deficiency of the enzyme porphobilinogen deaminase (also known as hydroxymethylbilane synthase

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21
Q

Ach

A

achondroplasia (dwarfism)
autosomal dominant mutation fibroblast growth factor receptor 3 (FGFR3) gene

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22
Q

SCD

A

sickle cell disease
autosomal recessive mutation HBB gene

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23
Q

CF

A

cystic fibrosis
autosomal recessive mutation CFTR, cause influx Cl- in cell

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24
Q

PKU

A

phenylketonuria
autosomal recessive mutation PAH
prevent processing of phenyllalanine

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25
Q

TSD

A

Tay-Sachs disease
autosomal recessive mutation HEXA gene
prevent breakdown of ganglioside, causing neuro issues

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26
Q

FXS

A

fragile x syndrome
mutation on FMR-1
x link dominant inheritance
more daughters be affected with intellectual disability

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27
Q

RTT

A

Rett syndrome
X link dominant inheritance
mutation MECP2 gene
more daughters affected, delay on devlopment

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28
Q

XLH

A

X link hypophosphotemia
Mutation PHEX gene
x link dominant
low levels of blood phosphate

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29
Q

Xlink recessive

A

more common in males (require 1 copy) female need 2 copy
common skip generations
No male-male

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30
Q

RP

A

Retinitis Pigmentosa
common cause of visual impairment due to photoreceptor degeneration
abnormal retinal pigment distrubtion
can be autosomal dominant, recessive, x link
over 80 loci

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31
Q

EDS

A

Ehlers-Danlos Syndrome
skin and other connective tissues may be excessively elastic or fragile
defect collagen
Autosomal dominant, recessive, or xlink
over 10 loci

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32
Q

CHL

A

congenital hearing loss
autosomal recessive (multiple gees)
autosomal dominant (WFS1)
x link (PRPS1)
over 90 loci

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33
Q

HSCR

A

Hirschsprung disease
mutation of RET gene
encode tyrosine kinase
failure of development of colonic ganglia leading to defective colonic motility and severe chronic constipation
dominant

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34
Q

MEN2A/2B

A

multiple endocrine neoplasia
mutation in RET (tyrosine Kinase)
cancer thyroid & adrenal
dominant

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35
Q

Diseases from x link recessive

A

Obviously - Ornithine transcarbamylas deficiency
a
Female - Fabry disease
Will - Wiskott-Aldrich Syndrome with actin cytoskeleton
Often - Ocular albinism
Give - G6PD deficincy
Her - Hunter syndrome
Boys - Bruton agammaglobulinemia (tyrosine kinase)
Her - Hemophilia A/B
xLink - Lesch Nyhan syndrome
Disorders - Duchenne muscular dystriophy

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36
Q

proband

A

first affected individual

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37
Q

autosomal dominant features

A

multiple generations
doesn’t normally skip
men = female
new dominant mutations have been assoc with increased age father

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38
Q

autosomal recessive features

A

one generation
male = female

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39
Q

x link recessive features

A

more common males
skipped generations
no male-male

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40
Q

x link affected male & normal female

A

all daughters hetero carriers
all sons hemizygous normal

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41
Q

x link normal male & affected female

A

half sons affected
half daughter carriers

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42
Q

x inactivation

A

DNA of x chromosome not transcibed as XIST produces noncoding RNA to surround chromosome
DNA methylation occurs and DNA become heterchromatin
creates inactive genetic cods
can casuse female to express x link recessive (manifesting hetero)

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43
Q

x link dominant features

A

no male-male
hetero females = affected
dominant seen 2x in women
no skipped generations

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44
Q

x link dominant affected male - normal female

A

no sons affected
all daughters have disease

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45
Q

x link dominant normal male - hetero female

A

50% sons affected
50% daughters affected

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46
Q

Holandric/Ylink inheritance features

A

only males affected
affected male gives to all sons, no daughters

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47
Q

pseudoautsomal inherit

A

X & Y chromosomes have regions that can exchange info
shows male-male, mimich autosomal
due to SHOX mutation Xp22 or Yp11, escaping inactivation

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48
Q

pleiotrophy

A

one mutant gene make several different phenotype

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49
Q

CATCH 22

A

Cardiac defect (aortic arch, conotruncal)
Abnormal faces
Thymic hypoplasia (recurrent infections, issue with T cell mediated response)
Cleft lip/palate
Hypocalcemia (defect parathyroid glands)

DiGeorge

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50
Q

mitochondrial DNA encode

A

13 polypeptide Oxidative phosphorylation
22tRNA
rRNA

51
Q

Mitochondrial inheritance

A

maternally inherited
pass only by women
almost all offspring of affected will inherit

52
Q

Leber’s Hereditary Optic neuropathy

A

LHON
bilateral loss vision
point mutation in mitochondrial NADH (COMPLEX I)

53
Q

Myoclonic epilepsy and Ragged Red Fiber Disease

A

MERRF
muscle jerking
abnormal mitochondria shape
mutation gene encode tRNA for Lysine

54
Q

Mitochondrial myopathy, encephalopathy, lactic acidosis & stroke-like episodes syndrome

A

MELAS
point mutation in gene for tRNA Leucine

55
Q

Huntington’s Disease

A

HD
autosomal dominant
CAG repeat in exon 1 of huntingtin gene
jerky, random, uncontrol movement (chorea)

56
Q

Myotonic Dystrophy inheritance

A

DM
autosomal dominant
DM1 is by CTG repeat in 3’UTR of Myotonic Dystrophy Protein Kinase

57
Q

Fragile X syndrome inherit

A

FXS
CGG repeat in 5’UTR of FMR1 gene
x-link dominant as female meiosis can expand repet
abnormal inheritance as genetic anticipation & x link inactivation occur

58
Q

Friedrich Ataxia inheritance

A

FA
Autosomal weakness
GAA triplet repeat first intron of FXN gene
iron-bind protein in mitochondria is silenced by heterochromatin with mutation

59
Q

Prader-willi syndrome

A

deletion of proximal portion of paternal long arm chromosome 15
infant have slow weight gain
child hyperphagia, obese, short stature, hypogonad, learn difficulty

60
Q

angelman syndrome

A

deletion of proximal portion of long arm of maternal chromosome 15
ataxia, speech defecit, psychomotor delay, happy puppet (laugh & flap arm)

61
Q

osteogenesis imperfecta

A

germline mosaicism can cause OI
can be from normal dad and have 2 affected infants with different partners

62
Q

mitochondrial heteroplasmy

A

more than one mitochondrial type cell (mutant & wild)
mom pass on random segregation (some offspring more mild vs severe symptoms)

63
Q

tissues affect by mitochondrial mutations

A

depend on rate ATP consumption
CNS
Heart/skeletal muscle
\renal
endocrine
liveer

64
Q

effects of trinucleotide repeat in protein coding sequences

A

toxin proteins

65
Q

effect of trinucleotide repeat in RNA coding region

A

alter RNA function

66
Q

effect trinucleotide repeat in non-coding region

A

reduced transcription/translation

67
Q

fragile x syndrome characteristics

A

large forehead, large jaw, large ears, large testes
mental retardation
joint laxity
behavior problems

68
Q

freidreich ataxia symptoms

A

muscle weak in extremittisee
loss coordination
visual impair
hearing impair
slur speech
scoliosis

69
Q

Myotonic dystrophy symptoms

A

muscle wasting
inability relax after contract
cardiac & smooth muscle afected
cataract
immunoglobulin abnormal
insulin resistance

70
Q

main mechanism expression modified

A

methylation of DNA
imprint applied to DNA sequences in proces of gametogenesis

71
Q

Uniparental isodisomy

A

error in meiosis II
inherit 2 copy same homolog from one parent

72
Q

uniparental heterodisomy

A

error meiosis I
two different homolog from one parent

73
Q

Sickle cell disease & heterozygote advantage

A

homozygous wild type subject to malaria selection
homozygous mutant type subject to anemia selection
heterozygote have 15% higher fitness than those with normal blood

74
Q

Ellis-van Creveld syndrome & genetic drift

A

found in old order amish
geentic diseases more common small, isolated populations as easier change of gene frequency
short ribs, heart malformation, polydactyly

75
Q

conditions Hardy Weinberg Equilibrium

A

random mating
large population size
equal fertility, no selection
no new mutation
no migration allele into/out

76
Q

Disease HWE apply to (autosomal recessive)

A

PKU, CF, TSD

77
Q

Disease HWE apply to (x link)

A

hemophilia A/B
color blindness

78
Q

heterozygote advantage

A

both homozygous wild type and mutant subject to different issues
heterozygous have neither issue & thus greater fitness

79
Q

founder effect

A

frequency of b is low in normal population
Bb start another population & increases b frequency
due to founder having b

80
Q

What diseases use PCR & ASO

A

sickle cell disease, hematochromatosis, alpha 1 antitrypsin deficiency

81
Q

biochem maifestation Duchenne Muscular dystrophy

A

creatine kinase in carriers are higher

82
Q

linkage phase

A

arrange allele on chromosome for 2+ linked genes

83
Q

disease for presymptomatic diagnosis

A

huntington disease, familial breast cancer, hemochromatosis, adenomatous polyposis

84
Q

most invasive prenatal diagnosis

A

cordocentesis
aminocentesis
chorionic villus sampling

85
Q

ultrasonography indication of chromosomal abnormality

A

greater thickness, more likelyy will be chromosomal abnormality

Nuchal thickening/translucency

86
Q

marternal marker for serum screen of Down syndrome

A

increase of hCG Beta subunit
increase Inhibin A

87
Q

human chorionic gonadotropin (hCG)

A

produced by embryo
increases in down syndrome pregnancy

88
Q

Inhibin A

A

hormone fetus/placenta makes in pregnancy
increases in down syndrome pregnancy

89
Q

What diseases would you treat with in vivi gene therapy

A

Retinitis pigmentosa
non muscle invasive bladder cancer
Hemophilia, A, B, C
Ornithine transcarbamylase
spinal muscular atrophy

90
Q

what disease use ex vivo gene therapy treatment

A

blood related
sickle cell disease
ADA deficiency
Chonic granulomatous disease
lysosomal storage diseases
acute lymphblastic leukemia
lymphoma

91
Q

when are retrovirus used

A

ex vivo GT for CAR T-cellwh

92
Q

when are adeno virus use

A

invivo GT non-muscle invasive bladder cancer

93
Q

retinitis pigmentosa

A

loss of vision
night vlind
trans esters to cis retinol

94
Q

gene therapy retinitis pigmentosa

A

luxturna
in vivo
Adeno associated virus
can increase seeing floaters, pain/swell, pressure
site specific chromosome 19

95
Q

non muscle incasive bladder cancer gene therapy

A

adenovirus
Adstiladrin
In vivo
need to be injected every 3 months

96
Q

Beta thalassemia gene therapy

A

absent beta chain hemoglobin
Zynteglo
Lentiviral vector deliver Hemotopic stem cells
Ex vivo

Can reduce WBC & platelet (infection & no clot)

97
Q

follicular lymphoma gene therapy

A

uncontrollable divide B cell
translocation chromosome 18
Axicabtagene ciloleucel (CAR T)
uses T cell in gamma retrovirus or lentilin virus

cause low RBC & WBC

98
Q

transversion mutation

A

purine base replace by pyrmidine

99
Q

regulatory mutation effect

A

can increase risk of cancer as non regulated growth

100
Q

gene DNA repair enzyme mutate

A

if off, mutation rate increase exponentially

101
Q

transcription factor mutation in Pax 3 causes

A

Klein Waardenburg syndrome
deafness, limb abnormalities

102
Q

mutation splice site effect

A

intron removal become inaccurate
leave unsplices, add nucleotides, delete nucleotide from adjacent exon, delete exon if normal splice used

103
Q

mutation causing B Thalassemia

A

splice defect HBB codes B globin

104
Q

Gaucher disease mutation

A

splice defect in GBA gene
acid Beta glucosidase

105
Q

mutation in Tay Sachs disease

A

splice defect HEXA gene
alpha subunit of B hexosaminidase A

106
Q

huntington disease mutation

A

HTT gene has trinucleotide repeat
in coding region

107
Q

spinobulbar muscular atrophy

A

AR gene trinucleotide repeat
in coding region

108
Q

fragile x syndrome mutation

A

FMR1 gene trinucelotide repeat
in 5’UTR

109
Q

myotonic dystrophy mutation

A

DMPK gene trinucleotide repeat
3’UTR

110
Q

HDR syndrome mutation

A

haploinsufficiency (half normal level gene product make phenotypic effects)
mutation in GATA3
Transcription factor mutation

111
Q

HHT mutation

A

haploinsufficiency (half normal level gene product make phenotypic effects)
mutation in ENG

112
Q

FH mutation

A

familial hypercholesterolemia
haploinsufficiency (half normal level gene product make phenotypic effects)
mutation in LDLR gene/ LDL receptor (Tf)

113
Q

HDR syndrome

A

Hypoparathyroidism, Deafness, Renal disease
bilateral hearing loss
renal dysplasia, hypoplasia, cystic kidney
autosomal dominant

114
Q

HHT syndrome

A

Hereditary hemorrhagic telangiectasia
autosomal dominant vascular dysplasia
small vascular malformations lungs liver & brain especially
endoglin protein mutation (TGF B coreceptor)
only has half normal amount receptor present

115
Q

Osteogenesis imperfecta mutation

A

dominant negative mutation in alpha 1 chain
collagen form trimer

116
Q

dominant negative mutation

A

common in proteins that dimer/multimer
common proteins that bind other proteins/DNA/RNA
mutant gene heterozygous makes loss of protein activity/function as mutant interfere with function normal

117
Q

hyper IgE syndrome mutation

A

dominant negative mutation in STAT3
eczema like rash, recurrent infection, facial abnormal, don’t lose baby teeth
autosomal dominant

118
Q

Charcot Marie Tooth Disease Type 1A

A

gain of function mutation
PMP 22 gene duplication
hammer toes, foot drop,
Cant Move Toes
dominant

119
Q

achondroplasia mutation

A

gain of function mutation
activating in FGFR3
short stature, big forehead, low nose, hyperlordosis
dominant

120
Q

gliomas mutation

A

gain of function mutation
new function gain in IDH1
dominmant

121
Q

acute hemolytic transfusion reaction

A

ABO blood group incompatibile
A donor to O recipient
IgM causes complement cascade & destroy RBC
polymorphism mutation

122
Q

polymorphic mutation

A

2+ alleles at given chromosome site

123
Q

PiZZ mutation

A

polymorphism mutate @ A1AT locus
10-15% of normal A1AT serum level
severe A1AT deficiency
recessive
cause inability inactivate elastase lead to empysema

B3 Clinical Application (5 decks)

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