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Genetics Flashcards

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1
Q

where is the promotor located

A

5’ to a specific gene
RNA polymerase bdings

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2
Q

differences between southern
northern and western analysis

A

southern - DNA digested - labeled DNA probe
northern - RNA digested - labered DNA probe
western - protein probe

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3
Q

dot blot vs reverse dot blot

A

dot blot: DNA region amplified applied to membrane + probe of single mutation

reverse: allele specific NTs applied to membrane + denatured DNA; hydridization detected

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4
Q

FISH useful for

A

trisomy 13, 18, 21
Prader-willi/Angelman
criduchat
digeorge
miller dieker
williams
4p

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5
Q

comparative genomic hybridization

A

identify number of copies of gene to determine if gain or loss

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6
Q

microarray expression analysis

A

gene over or underexpressed

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7
Q

mutation microarray analysis

A

identify mutations or polymorphisms in gene

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8
Q

targeted mutation analysis

A

detect known sequence of triplet repeat expansion

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9
Q

robertsonian translocation

A

long arms of 2 different chromosomes fuse at centromere and very short arms are lost

can only happen with 13, 14, 15, 21 and 22

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10
Q

MCC robertsonian translocation

A

chr 21 and 14

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11
Q

Lyon hypothesis

A

inactive X forms barr body

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12
Q

AR song

A

alpha beta, PKU
iron, copper, bern-sou
Hartnup glanzmann fanconi
AR yes its true

21OH def, congenital muscular dystrophy
CF
IEM

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13
Q

AD song

A

von von ALS, Rb MEN
Tubes & spheres and &huntingtons
Marfan, Ehler’s Dan
NF1 and 2 don’t FAP too much
Autosomal Dominant yes this song is clutch

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14
Q

XLR

A

the OTC bitsy Hunter’s name was Lesch Fabry
he shot the Menke WASP and G6P
up came Bruton what a Douchey guy
A & B are XL dont forget DI

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15
Q

uniparental disomy

A

loss of function in a gene that requires 1 from each parent

prader willi and angelman due to 15q region

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16
Q

associated with AMA

A

klinefelter
trisomy 13, 18, 21

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17
Q

associated with advanced paternal age

A

achondroplasia
apert
crouzon
NF
OI
thanatophoric dysplasia
klinefelter/tri21

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18
Q

most cardiac lesions occur more in males aside from

A

ASD and PDA

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19
Q

recurrence risk cardiac defect

A

1 child –> 3-4%
2 children –> 10%

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20
Q

recurrence risk cleft lip

A

1 child and 1 unaffected parent - 4-5%
1 child and 1 affected parent - 10%

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21
Q

recurrence risk cleft palate

A

1 child - 2-6%

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22
Q

recurrence risk club foot

A

1 child - 2-5%
1 child and 1 parent - 25%

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23
Q

recurrence risk DDH

A

1 child - 3-4% (0.5% if M, 6% if F)

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24
Q

recurrence risk Hirshsprung

A

1 child 3-5%

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25
recurrence risk NT defect
1 child 3-5 %
26
recurrence risk pyloric stenosis
1 mother- 19% son 7% daughter 1 father- 5.5% son 2.4% daughter 1 child - 3% (4% brother, 2.4% sister)
27
recurrence risk trisomy 21
mother with balanced translocation - 10-15% father with balance translocation - 5% prior child tri21; parents no translocation - 1%
28
Hardy Weinberg
p + q = 1 p^2 + 2pq + q^2 = 1
29
trisomy 8
camptodactyly thick lips deep eyes cupped ears hip dysplasia MR
30
trisomy 13
80% from maternal origin midline defects VSD > PDA cutis aplasia narrow hyperconvex fingernails cleft lip/palate small eyes umbilical/inguinal hernia holoprosencephay fetal HgB increased neutrophils with nuclear projections
31
trisomy 18
95% of maternal origin VSD, PDA clenched hand rocker bottom feet small mouth cryptorchidism
32
trisomy 21
MCC nondisjunction - maternal 75% born to those < 35 due to high reproductive rate endocardial cushion defect hypothyroid hyperflexible upslanting palpebral fissures hypotonia improves with ages
33
cri du chat
del 5p paternal hypertelorism downward palpebral fisssues MR FTT cat like cry - abnormal laryngeal development
34
del 13q
thumb hypoplasia retinoblastoma coloboma microcephaly high nasal bridge cryptorchidism
35
Wolf Hirshorn
del 4p 87% denovo greek warrior helmet broad beaked nose hyperteleroism low ears with preauricular dimble microcephaly seizures
36
Angelman
70% of deletion of 15q maternal origin
37
22q11.2; defect in what arches?
digeorge defect in 4th branchial arch and derivatives of the 3rd and 4th pharyngeal pouch AD
38
what is most common chromosome deletion?
22q11.2
39
prader- willi
75% deletion 15q11-13 of paternal origin
40
testing progression for angelman or prader willi
chromosomal - FISH - polymorphic genetic markers - imprinting center
41
Rubenstein-Taybi
16p13.3 - cAMP regulated enhancer binding protein broad thumbs, broad first toe downward slanting palpebral fissures hypoplastic maxilla narrow palate beaked nose hirsutism/synorphys FTT
42
WAGR
wilms tumor aniridia genitourinary retardation 11p13 del denovo
43
williams
7q11.23 del -- elastin gene -- sporadic supravalvar subaortic stenosis > PPS hypoplastic nails prominent lips, hoarse voice stellate iris
44
achondroplasia
80-90% de novo AD FGFR3 gene trident hands depressed nasal bridge megalocephaly narrow spinal cord normal IQ
45
apert vs crouzon
both = AD, FGFR2 mutations Apert = midface hypoplasia, broad thumb and toe/syndactyly irregular craniosynostosis MR more common Crouzon = maxillary hypoplasia, premature craniosynostosis - coronal/lamboid/sagittal MR less common
46
Beckwith Wiedemann genetics
11p15.5 region 50% hypomethylation of centromeric imprinting center 10% mutation CKN1C
47
Beckwith Wiedemann symptoms
macroglossia linear earlobe fissures exophthalmos macrosomia organ hyperplasia fetal adrenocortical cytomegaly wilms and hepatoblastoma (monitor every 3 months abdominal US until age 7)
48
Marfan symptoms
dilated aorta (yearly echo, beta blockers to reduce risk, abx for dentist) arachnodactyly hyperextensibility scoliosis lens subluxed UP
49
Holt Oram genetics and symptom
AD 12q2 ASD; upper limb defects
50
Marfan genetics
AD fibrillin 15q21.1
51
Noonan genetics
sporadic AD 12q22
52
Noonan symptoms
dysplastic PV pectus webbed neck cryptorchidism abnormal coagulopathy
53
OI inheritance and types
AD type 1 collagen types: 1, sclera blue, fractures, deaf, wormian bones in cranial sutures 2. sclera blue, fractures, short and broad long bones, still born/die early - respiratory failure 3. blue sclera that normalizes, fractures at birth, IUGR, deaf 4. normal/gray sclera, bone deformities, abnormal dentition
54
Stickler genetics and symptoms
AD type II collagen COL2a 12q13.11-q13.2 flat facies myopia deaf spondyloepiphyseal dysplasia mitral valve prolapse
55
thanatophoric dysplasia
AD FGFR3 (4p16.3); extracellular or intracellulary tyrosine kinase domain type 1 - more common, curved long bones, flat vertebral bodies type 2 - straight femoral, tall vertebral bodies, clover leaf skull narrow thorax, short limbs
56
treacher collins
AD TCOF1 chr 5; 1/2 branchial arch lower eyelid coloboma down palpebral fissures mandibular hypoplasia dysmorphic ears malar hypoplasia Conductive hearing loss normal intelligence
57
waardenburg
AD 1. AD PAX3 2q35 lateral displacement of medial canthi, deaf 2. AD, microphthalmia gene 3p12.3-p14.1 normal canthi, deaf 3. AD, upper limb defects 4. AD/AR + Hirschsprung pigmentary abnormalities: white forelock, partial albanism
58
Carpenter
AR polydactyly lateral displacement of inner canthus brachycephaly MR FTT
59
Ellis van-Creveld
AR short distal extremities polydactyly nail/teet short narrow thorax normal IQ
60
Fanconi pancytopenia
AR chromosomal breaks in lymphocytes and AF cells hyperpigmentation radial/thumb hypoplasia pancytopenia
61
Meckel-Gruber
AR 17q21-q24 polydactyly microophthalmia occipital encephalocele cystic kidneys
62
Smith Lemli Optiiz
AR cholesterol synthesis defect --> low cholesterol and elevated 7dehydrocholesterol 2nd and 3rd toe syndactyly anteverted nares hypogenitalia MR FTT high mortality
63
TAR
AR thyrombocytopenia absent radii bilateral thumb present ulnar abnormalities 40% mortality - hemorrhage
64
Fryns Syndrome
AR CDH hirshprung duodenal atresia neuro abnormalities coarse facies
65
Fragile X
XL dominant 80% penetrance in males 30% in females triple repeat of CGG > 60 repeats long face and ears, large testes, MR, cluttered speech hyperextensible fingers
66
Menkes
XLR copper deficiency twisted fractured hair - lose pigmentation at 6 weeks pudgy face progressive cerbral deterioration seizures wormian bones fractures - lateral spur formation early death in infancy
67
Klinefelter
47XYY hypogonadism gynecomastia - atrophy seminiferous tubules behavioral difficulty germ cell tumors
68
turner
45X chromosome deleted is usually paternal cubitus valgus cystic hygroma webbed neck gonadal dysgenesis horseshoe kidney lymphedema gonadoblastoma
69
Cornelia de Lange symptoms
micromelia synorphys thin down turning upper lip long curly eyelashes hypertonicity microbrachycephaly hirsuitism low posterior hairline
70
CHARGE
mutation in chromodomain helicase DNA binding gene 7 (CHD7) chr 8q12 --> altered chromatin AD Coloboma Heart Atresia of choanae Retarded growth Genital hypoplasia Ear
71
Cat-eye
chr 22 extra part 22q11 triplicate/quadruplicate (instead of deletion in digeorge) TAPVR, persistent L SVC down palpebral fissures anal atresia + rectovestibular fistula coloboma of iris
72
triploidy
69XXY large placenta with hydatiform changes IUGR 3rd and 4th syndactyly
73
Cornelia de Lange genetics
mutation in 1 of 3 cohesin genes 1. NIPBL 5p13 2. SMC1L1 - Xp11.22 3. SMC3 - 10q25
74
Mobius
sequence 6th and 7th palsy 4 types: 1. destruction of central brain nuclei 2. hypoplasia or absence of central brain nuclei 3. peripheral nerve 4. myopathy expressionless facies micrognathia talipes equinovarus
75
Goldenhar
unknown 1st and 2nd branchial arch VSD deaf normal IQ hemivertebrae midface hypoplasia
76
klippel feil
unknown, sporadic defect of cervical vertebrae short neck low hairline limited head movement deaf sprengel deformity
77
klippel trenaunay weber
unknown;sporadic asymmetric limb hypertrophy vascular lesions
78
poland sequence
unknown; sporadic proximal subcalvian arterial disruption in utero > poorly developed distal limbs dextrocardia unilateral hypoplasia or absence of pectoralis muscle rib anomalies
79
russell silver
sporadic; chr 7? small triangular facies short asymmetry of skeleton 5th finger clinodactyly excess head and upper trunk sweating late closure of AF
80
VACTERL
vertebral anorectal cardiac (VSD > Tof, CoA) TEf renal limb (U>L, radial > ulnar) - hydrocephalus (aqueductal stenosis)
81
arachnodactyly
homocystinuria marfan
82
camptodactyly
isolated tri 8
83
cleft lip or palate
charge digeorge meckel gruber pierre robin smith lemli opitz tri 13
84
clinodactyly
carpenter cornelia de lange del 13q klinefelter rubenstein taybi trisomy 21 holt oram prader willi
85
coloboma
cat eye - iris charge - retina del 13q treacher collins - eyelid tri 13 -iris
86
cystic hygroma
noonan turner del 13q tri 13, 18, 21
87
ocular hypertelorism
apert cat-eye criduchat crouzon del 13q digeorge noonan tri 8 turner
88
hypotelorism
holoprosencephay meckel gruber williams trisomy 13
89
limb hypertrophy
beckwith klippel tranauney weber
90
lips prominent
tri 8 wagr williams
91
hypogenitalia
carpenter klinefelter prader willi smith lemli opitz
92
macroglossia
beckwith congenital hypothyroid tri 21
93
micrognathia
pierre robin cat eye charge cornelia de lange del 13q digeorge marfan meckel gruber mobius russel silver smith lemli tri 8 and 18 wagr
94
polydactyly
carpenter ellis van creveld isolated meckel gruber tri 13 vacterl
95
radial hypoplasia
fanconi tar vacterl
96
syndactyly
apert carpenter cornelia isolated poland smith lemli tri 21 vacterl
97
rhizomelia
short proximal long bones achondroplasia
98
mesomelia
short distal long bones mesomelic dysplasia
99
micromelia
short proximal and distal long bones achondrogenesis short rib polydactyly diastrophic dysplasia OI type II
100
acromelia
small hands or feet ellis van creveld
101
talipes
foot deformity
102
varus
inward
103
valgus
outward
104
equinus
downward
105
calcaneus
upward with heel downward
106
metatarsus adductus
medial deviation of metatarsal bones c shaped lateral border of foot
107
talipes equinovarus
club foot higher in hispanics inversion and adduction of forefoot + inversion of heel, equinus of ankle, internal rotation
108
calcaneovalgus
flexible down and out appearance of foot, extreme dorsiflexion
109
congenital vertical talus
- rocker bottom foot
110
lethal skeletal dysplasias
- achrondrogenesis type 2: collagen 2 - congenital hypophasphatasia severe type: tissue non specific alk phos - OI type 2: collagen 1 or 2 - short rib dysplasia --ellis van creveld; ellis van creveld genes 1 and 2 -- Jeune = IFT gene - thanatophoric dysplasia = FGFR3
111
nonlethal skeletal dysplasias
- achondroplasia - campomelic dysplasia - chondrodysplasia punctate - stickler
112
what supplement helps PKU
5-Hydroxytryptophan
113
what is deficient in PKU
tyrosine
114
Pfeiffer clinical findings
brachycephaly maxillary hypoplasia hypertelorism prognathism broad thumbs great toes, and syndactyly in both hands of second and third digits
115
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
- XLD - ipsilateral hypoplasia of the limbs, facial hemidysplasia, and hypoplasia of various organ systems - unilateral erythematous scales with clear midline demarcation that tend to improve with age - Stippled calcification of the epiphysis
116
Phocomelia
fully formed hands attached to his trunk at the shoulder and craniofacial defects ESCO2 gene AR
117
Congenital myotonic dystrophy (CMD) genetics
- AD - 3' noncoding DMPK gene - chr 19q13.3 - CTG repeat - splicing of CUG binding protein (CUG-BP) and Musclebind-like protein (MBNL)
118
Smith Lemli Opitz enzyme defect
7-dehydrocholesterol reductase
119
Legius syndrome
AD; SPRED1 gene similar to NF1 without other significant neurocutaneous findings has: * cafe au lait * axillary freckling * macrocephaly * learning disability
120
what is a contiguous gene disorder?
deletion or duplication that affects several genes lying in close proximity to each other i.e. Angelman
121
transient neonatal diabetes mellitus genetics
imprinting defect chr 6`
122
genetic test to confirm uniparental disomy
Single nucleotide polymorphism microarray
123
lactate elevation in NEC causes:
L lactate from tissue hypoxia D lactate from production by enteric bacteria
124
how many de novo single nucleotide variants does each person have?
average 74
125
MC imprinting disorder
Beckwith Wiedemann
126
Jeune a.w which other organs
renal disease pancreatic and hepatic fibrosis hirshprung

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