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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
TSD
Tay-Sachs disease autosomal recessive mutation HEXA gene prevent breakdown of ganglioside, causing neuro issues
26
FXS
fragile x syndrome mutation on FMR-1 x link dominant inheritance more daughters be affected with intellectual disability
27
RTT
Rett syndrome X link dominant inheritance mutation MECP2 gene more daughters affected, delay on devlopment
28
XLH
X link hypophosphotemia Mutation PHEX gene x link dominant low levels of blood phosphate
29
Xlink recessive
more common in males (require 1 copy) female need 2 copy common skip generations No male-male
30
RP
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
31
EDS
Ehlers-Danlos Syndrome skin and other connective tissues may be excessively elastic or fragile defect collagen Autosomal dominant, recessive, or xlink over 10 loci
32
CHL
congenital hearing loss autosomal recessive (multiple gees) autosomal dominant (WFS1) x link (PRPS1) over 90 loci
33
HSCR
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
34
MEN2A/2B
multiple endocrine neoplasia mutation in RET (tyrosine Kinase) cancer thyroid & adrenal dominant
35
Diseases from x link recessive
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
36
proband
first affected individual
37
autosomal dominant features
multiple generations doesn't normally skip men = female new dominant mutations have been assoc with increased age father
38
autosomal recessive features
one generation male = female
39
x link recessive features
more common males skipped generations no male-male
40
x link affected male & normal female
all daughters hetero carriers all sons hemizygous normal
41
x link normal male & affected female
half sons affected half daughter carriers
42
x inactivation
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)
43
x link dominant features
no male-male hetero females = affected dominant seen 2x in women no skipped generations
44
x link dominant affected male - normal female
no sons affected all daughters have disease
45
x link dominant normal male - hetero female
50% sons affected 50% daughters affected
46
Holandric/Ylink inheritance features
only males affected affected male gives to all sons, no daughters
47
pseudoautsomal inherit
X & Y chromosomes have regions that can exchange info shows male-male, mimich autosomal due to SHOX mutation Xp22 or Yp11, escaping inactivation
48
pleiotrophy
one mutant gene make several different phenotype
49
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) DiGeorge
50
mitochondrial DNA encode
13 polypeptide Oxidative phosphorylation 22tRNA rRNA
51
Mitochondrial inheritance
maternally inherited pass only by women almost all offspring of affected will inherit
52
Leber's Hereditary Optic neuropathy
LHON bilateral loss vision point mutation in mitochondrial NADH (COMPLEX I)
53
Myoclonic epilepsy and Ragged Red Fiber Disease
MERRF muscle jerking abnormal mitochondria shape mutation gene encode tRNA for Lysine
54
Mitochondrial myopathy, encephalopathy, lactic acidosis & stroke-like episodes syndrome
MELAS point mutation in gene for tRNA Leucine
55
Huntington's Disease
HD autosomal dominant CAG repeat in exon 1 of huntingtin gene jerky, random, uncontrol movement (chorea)
56
Myotonic Dystrophy inheritance
DM autosomal dominant DM1 is by CTG repeat in 3'UTR of Myotonic Dystrophy Protein Kinase
57
Fragile X syndrome inherit
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
Friedrich Ataxia inheritance
FA Autosomal weakness GAA triplet repeat first intron of FXN gene iron-bind protein in mitochondria is silenced by heterochromatin with mutation
59
Prader-willi syndrome
deletion of proximal portion of paternal long arm chromosome 15 infant have slow weight gain child hyperphagia, obese, short stature, hypogonad, learn difficulty
60
angelman syndrome
deletion of proximal portion of long arm of maternal chromosome 15 ataxia, speech defecit, psychomotor delay, happy puppet (laugh & flap arm)
61
osteogenesis imperfecta
germline mosaicism can cause OI can be from normal dad and have 2 affected infants with different partners
62
mitochondrial heteroplasmy
more than one mitochondrial type cell (mutant & wild) mom pass on random segregation (some offspring more mild vs severe symptoms)
63
tissues affect by mitochondrial mutations
depend on rate ATP consumption CNS Heart/skeletal muscle \renal endocrine liveer
64
effects of trinucleotide repeat in protein coding sequences
toxin proteins
65
effect of trinucleotide repeat in RNA coding region
alter RNA function
66
effect trinucleotide repeat in non-coding region
reduced transcription/translation
67
fragile x syndrome characteristics
large forehead, large jaw, large ears, large testes mental retardation joint laxity behavior problems
68
freidreich ataxia symptoms
muscle weak in extremittisee loss coordination visual impair hearing impair slur speech scoliosis
69
Myotonic dystrophy symptoms
muscle wasting inability relax after contract cardiac & smooth muscle afected cataract immunoglobulin abnormal insulin resistance
70
main mechanism expression modified
methylation of DNA imprint applied to DNA sequences in proces of gametogenesis
71
Uniparental isodisomy
error in meiosis II inherit 2 copy same homolog from one parent
72
uniparental heterodisomy
error meiosis I two different homolog from one parent
73
Sickle cell disease & heterozygote advantage
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
Ellis-van Creveld syndrome & genetic drift
found in old order amish geentic diseases more common small, isolated populations as easier change of gene frequency short ribs, heart malformation, polydactyly
75
conditions Hardy Weinberg Equilibrium
random mating large population size equal fertility, no selection no new mutation no migration allele into/out
76
Disease HWE apply to (autosomal recessive)
PKU, CF, TSD
77
Disease HWE apply to (x link)
hemophilia A/B color blindness
78
heterozygote advantage
both homozygous wild type and mutant subject to different issues heterozygous have neither issue & thus greater fitness
79
founder effect
frequency of b is low in normal population Bb start another population & increases b frequency due to founder having b
80
What diseases use PCR & ASO
sickle cell disease, hematochromatosis, alpha 1 antitrypsin deficiency
81
biochem maifestation Duchenne Muscular dystrophy
creatine kinase in carriers are higher
82
linkage phase
arrange allele on chromosome for 2+ linked genes
83
disease for presymptomatic diagnosis
huntington disease, familial breast cancer, hemochromatosis, adenomatous polyposis
84
most invasive prenatal diagnosis
cordocentesis aminocentesis chorionic villus sampling
85
ultrasonography indication of chromosomal abnormality
greater thickness, more likelyy will be chromosomal abnormality Nuchal thickening/translucency
86
marternal marker for serum screen of Down syndrome
increase of hCG Beta subunit increase Inhibin A
87
human chorionic gonadotropin (hCG)
produced by embryo increases in down syndrome pregnancy
88
Inhibin A
hormone fetus/placenta makes in pregnancy increases in down syndrome pregnancy
89
What diseases would you treat with in vivi gene therapy
Retinitis pigmentosa non muscle invasive bladder cancer Hemophilia, A, B, C Ornithine transcarbamylase spinal muscular atrophy
90
what disease use ex vivo gene therapy treatment
blood related sickle cell disease ADA deficiency Chonic granulomatous disease lysosomal storage diseases acute lymphblastic leukemia lymphoma
91
when are retrovirus used
ex vivo GT for CAR T-cellwh
92
when are adeno virus use
invivo GT non-muscle invasive bladder cancer
93
retinitis pigmentosa
loss of vision night vlind trans esters to cis retinol
94
gene therapy retinitis pigmentosa
luxturna in vivo Adeno associated virus can increase seeing floaters, pain/swell, pressure site specific chromosome 19
95
non muscle incasive bladder cancer gene therapy
adenovirus Adstiladrin In vivo need to be injected every 3 months
96
Beta thalassemia gene therapy
absent beta chain hemoglobin Zynteglo Lentiviral vector deliver Hemotopic stem cells Ex vivo Can reduce WBC & platelet (infection & no clot)
97
follicular lymphoma gene therapy
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
transversion mutation
purine base replace by pyrmidine
99
regulatory mutation effect
can increase risk of cancer as non regulated growth
100
gene DNA repair enzyme mutate
if off, mutation rate increase exponentially
101
transcription factor mutation in Pax 3 causes
Klein Waardenburg syndrome deafness, limb abnormalities
102
mutation splice site effect
intron removal become inaccurate leave unsplices, add nucleotides, delete nucleotide from adjacent exon, delete exon if normal splice used
103
mutation causing B Thalassemia
splice defect HBB codes B globin
104
Gaucher disease mutation
splice defect in GBA gene acid Beta glucosidase
105
mutation in Tay Sachs disease
splice defect HEXA gene alpha subunit of B hexosaminidase A
106
huntington disease mutation
HTT gene has trinucleotide repeat in coding region
107
spinobulbar muscular atrophy
AR gene trinucleotide repeat in coding region
108
fragile x syndrome mutation
FMR1 gene trinucelotide repeat in 5'UTR
109
myotonic dystrophy mutation
DMPK gene trinucleotide repeat 3'UTR
110
HDR syndrome mutation
haploinsufficiency (half normal level gene product make phenotypic effects) mutation in GATA3 Transcription factor mutation
111
HHT mutation
haploinsufficiency (half normal level gene product make phenotypic effects) mutation in ENG
112
FH mutation
familial hypercholesterolemia haploinsufficiency (half normal level gene product make phenotypic effects) mutation in LDLR gene/ LDL receptor (Tf)
113
HDR syndrome
Hypoparathyroidism, Deafness, Renal disease bilateral hearing loss renal dysplasia, hypoplasia, cystic kidney autosomal dominant
114
HHT syndrome
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
Osteogenesis imperfecta mutation
dominant negative mutation in alpha 1 chain collagen form trimer
116
dominant negative mutation
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
hyper IgE syndrome mutation
dominant negative mutation in STAT3 eczema like rash, recurrent infection, facial abnormal, don't lose baby teeth autosomal dominant
118
Charcot Marie Tooth Disease Type 1A
gain of function mutation PMP 22 gene duplication hammer toes, foot drop, Cant Move Toes dominant
119
achondroplasia mutation
gain of function mutation activating in FGFR3 short stature, big forehead, low nose, hyperlordosis dominant
120
gliomas mutation
gain of function mutation new function gain in IDH1 dominmant
121
acute hemolytic transfusion reaction
ABO blood group incompatibile A donor to O recipient IgM causes complement cascade & destroy RBC polymorphism mutation
122
polymorphic mutation
2+ alleles at given chromosome site
123
PiZZ mutation
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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