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MOD Exam2 > Genetics - Martin > Flashcards

Genetics - Martin Flashcards

1
Q

Missense

A

change 1 base = different protein

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2
Q

Nonsense

A

change 1 base = stop codon

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3
Q

CF is what type of d and how are heterozygote carriers in risk of things

A

Autosomal recessive

- in risk of pulmonary or pancratic

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4
Q

CF genes mutations that are not the actual gene mutation for CFTR can cause

A
  • in risk of pulmonary or neonatal meconium ileus (thick hard to pass)
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5
Q

PKU common in

A

scandinavian

NOT AA or jews

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6
Q

PKU deficiency in
causing
when do sx start

A

Phenylalanine hydroxylase (PAH) deficiency = hyperphenalaniemia
X tyrosin
at 6mo

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7
Q

PKU sx

A

intellectual disability
hypopigmentation hair, skin, eczema
musty odor

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8
Q

2 X linked DZ

A
  1. G6PD deficiency

2. Fragile X syndrome

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9
Q

autosomal dominant

A
  1. HD
  2. neurofibromatosis
  3. marfan syndrome
  4. Ehlers-Danlos syndrome
  5. Osteogenesis imperfecta
  6. Familial hypercholesterolemia
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10
Q

autosomal recessive 2 DZ

A
  1. CF

2. PKU

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11
Q

Galactosemia

A

X galactose-1-phosphate uridyltransferase = accumulation of galactose

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12
Q

albinism

A

low TRY = X melanin

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13
Q

Lesch-Nyhan

A

high intermediate product that breaks down to toxic product

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14
Q

a-antitrypsin deficiency

A

X neutrophil elastase in lung = emphysema

* avoid smoking

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15
Q

reason for a-antitrypsin deficiency

A

mutated PIZZ

- in risk of emphysema, hepatocellular carcinoma = liver transplant

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16
Q

Thalassemia

A

effects amount of globin chains made for Hb

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17
Q

drugs and enzyme deficiency

A

some drugs can unmark a deficient enzyme in a person

= Antimalarial primaquine = severe hemolytic anemia (from G6PD deficiency)

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18
Q

Marfan Syndrome defected gene and chr

A

FBN1 = X fibrillin-1 (ECM glycoprotein)

chr 15q21.1

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19
Q

X fibrillin leads to

A
  1. loss of structural support

2. excessive activation of TGF-B

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20
Q

high TGF-B SX

A
  1. bony overgrowth, myxoid changes in mitral valve

2. inflammation, vascualr SM, high MMPs (metalloproteases)

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21
Q

Marfan Syndrome SX

A
  1. congential contractural arachnodactyly
  2. tall, long extremities
  3. double jointed, hyperextension
  4. Dolicocephalic (long- headed), frontal bossing,
    prominant supraorbtial ridges
  5. pectus excavatum (depressed sternum)
  6. ectopic lentis (lens dislocation)*
  7. mitral valve prolapse, dialted distended ascending aorta = aortic dissection
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22
Q

Ehlers- Danlos Syndromes (EDS) reason

A

defect in collagen synthesis

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23
Q

Ehlers- Danlos Syndromes (EDS) SX

A
  1. hyperextensive skin, hypermobile joints
  2. fragile skin brusing
  3. gaping defects (hard to heal surgery)
  4. colon or Large As rupture,
  5. rupture of cornea, retinal detachment
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24
Q

classic EDS

A

diaphragmatic hernia

= AD

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25
Q

vascular EDS

A

colon or Large As rupture,

=AD

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26
Q

Kyphoscolisis EDS

A

rupture of cornea, retinal detachment
= AR
= PLODI gene

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27
Q

Dermatosparaxis EDS

A

= ADAMTS2 gene

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28
Q

Familal Hypercholestrolemia

due to

A
  1. mutated LDL Receptor
  2. ApoB problem (ligand)
  3. PCSK9 problem : remove LDL form liver
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29
Q

Familal Hypercholestrolemia heterozygoze

A

2-3 X higher cholesterol + CAD

= Tendinous xanthomas

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30
Q

Familal Hypercholestrolemia homozygous

A

5-6X higher plasma cholesterol

= skin xanthomas, coronary , cerebral atherosclerosis , MI before 20yo

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31
Q

Lysosomal Storage Disease : Gaucher Disease in risk of getting

A

Parkinsion’s D

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32
Q

Lysosomal Storage Disease : Niemann- Pick type C in risk of getting

A

Alzheimer’s D

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33
Q

Autophagy

A

turnover dysfunctional mitochondria = mitophagy

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34
Q

impaired autophagy gives rise to

A

2ndaryt accumulation of lysosomes = neurodegenerative link

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35
Q

primary accumulation of lysosomes =

A

large lysosomes stuffed, due to enzyme not present

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36
Q

TX of lysosomal diseases

A
  1. enzyme replacement therapy
  2. “substrate reduction therapy: reduce substate unable to get degraded
  3. molecular chaperone therapy: a misfolded enzyme when bound to competitive inhibitor can cause proper folding of it to occur
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37
Q

Gaucher cell looks

A

crumpled tissue paper

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38
Q

Globoid cells seen in

A

Krabbe’s disease

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39
Q

Niemann-Pick disease cells

A
  1. Zebra bodies

2. Foam cells (bubble appearence)

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40
Q

Tay-Sach’s disease cells

A

onion skin whorled lysosomal membranes in EM

lipid vacuoles also in neurons

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41
Q

Lysosomal diseases 4

A
  1. Tay-Sachs
  2. Gaucher
  3. Niemann pick
  4. MPSs (Hurler)
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42
Q

Tay-Sachs reason and most likely to get it

A

X Hexosaminidase A (HEXA) from mutation of chr 15

Jews, east euopeans

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43
Q

Tay-Sachs causes

A

gangliosidosis GM2

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44
Q

Tay-Sachs SX

A

at 6mo
motor and mental disorientation, flacciditym blind, dementia
= average age is 2-3 yo

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45
Q

Tay-Sachs on eye

A

Cherry-red spot on macula

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46
Q

Tay-Sachs accumulation of

A

ganglioside in neurons, eye, heart, liver , spleen

= fat stains oil red O+ Sudan black B

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47
Q

Niemann- Pick DZ reason

common in

A

X sphingomyelinase
= accumulation of sphingomyelin in lysosomes
(Chr 11p15.4)
Jews

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48
Q

Niemann- Pick Type A :

A

severe infantile, COMPLETE x spingomyelinase

  • neuro issues
  • a lot of accumulation
  • death before 3yo, sx by 6mo
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49
Q

Niemann- Pick Type B :

A

least severe

  • organomegaly
  • NORMAL CNS
  • live to adult
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50
Q

Niemann- Pick type C :

A

intermediate severe, most common

  • NPC1 mutation,
  • progressive CNS change
  • ataxia, palsy, dystonia
51
Q

zebra bodies are

A

lysosomes with concentric lamellations

52
Q

Niemann- Pick eye and 2 other special things you see

A
  1. Cherry red retinal spot -type A
  2. massive splenomegally
  3. lipid accumulation in cerebellum
53
Q

Gaucher Disease reason

A

X Glucocerebrosidase = accumulation of glucocerebroside in phagocytes (involves BM) or CNS
= M ACTIVATION - IL1, IL6, TNF

54
Q

Gaucher Disease Type 1 :

A

least severe

  • chronic nonneronpathic
  • NORMAL CNS
  • spleenomegally
  • bone sx
  • jews
55
Q

Gaucher Disease Type 2 :

A

most severe

  • acute neuropathic
  • infantile cerebral pattern, progressive CNS problems
  • early death
  • hepatospleenomegally
  • NOT JEWS
56
Q

Gaucher Disease Type 3 :

A

intermediate

  • progressive CNS
  • begins at adolescence or early adulthood
57
Q

Gaucher Disease special things you see 4

A
  1. 10Kg spleen
  2. BM erosion , bone sx
  3. pancytopenia
  4. thrombocytopenia
58
Q

Gaucher cells

A

distended phagocytic cells

59
Q

Gaucher Disease TX

A

allogenic hematopoietic stem cells transplant

60
Q

Mucopolysaccharidoses (MPS)

reason and 2 types

A

X glycosaminoglycas
= a lot of ground substance of CT
1. Hurler
2. Hunter

61
Q

Mucopolysaccharidoses (MPS) SX

A

coarse facial features, clouding of cornea, stiff joints, intellectually problems
Hepatospleenomegaly, valvular leasions, brain lesions

62
Q

Hurler specific SX:

A 
MPS I-H :  X a-L-iduronidase, 
-normal at birth 
-hepatopleenomegaly by 6-24mo
- death at 6-10yo (cardiac problems, coronary deposits)
- corneal clouding 
(AR)
63
Q

Hunters specific SX:

A

MPS II: X iduronate-2-sulfatase
- NORMAL cornea
- milder then hurlers
(X-linked)

64
Q

Mucopolysaccharidoses (MPS) are

A

mononuclear phagocytic cells

65
Q

Mucopolysaccharidoses (MPS) cells and histology

A
  1. lamellated Zebra bodies also

2. balloon cells : clear cytoplasm, many vacuoles = swollen lysosomes —-> PAS +

66
Q

Mucopolysaccharidoses (MPS) most common cause of death

A

MI, cardiac decomposition

67
Q

Glycogenoses, Glycogen storage disease usually involves what organs

A

liver or muscle

68
Q

Glycogenoses : Hepatic form

A

VON- Gierke

high glycogen storage in liver = hypoglycemia

69
Q

VON- Gierke

A

X Glucose-phosphatase , no release of glucose from the liver

70
Q

Glycogenoses : Myopathic form

A

McArdle
high glycogen storage in muscles
muscle weakness, cramps after exercise
(* NO blood lactate after exercise)

71
Q

McArdle

A

X Phosphofructokinase (PFK) , phospholylase in muscles

72
Q

Glycogenoses : Miscellaneous

A 
Pompe
1. X acid a-glucosidase (acid maltase)
2. X branching enzymes
= cant store glycogen 
- early death
73
Q

Pompe

A

X acid maltase (acid a-glucosidase)

= cardiomegaly

74
Q

low amounts of :
in Von Gierke
in McArdle

A

low glucose in blood (hypoglycemia)

low energy output

75
Q

Pompe cells

A

glycogen filled cardiac cells

76
Q

most common cause of congenital malformation

A

environment enhancing genetic problems

= range of severity of disorder due to environment and many factors involved

77
Q

reducing neural tube defects can be done by

A

ADD FOLIC ACID in diet of mother

78
Q

Euploid

A

exact multiple of haploid 23 number

79
Q

Aneuploid

A

chr not multiple of 23

  • nondisjunction : +/- 1 chr
  • anaphase lag : during meiosis or mitosis, one chr lags behind and left out = 1 normal cell and 1 monosomy cell
80
Q

Monosomy

A

too much loss of DNA to have live birth except some trisomies that still do

81
Q

Mosaicism

A

mitotic errors in early development = 2 or more populations of cells with different chromosomal complement

82
Q

Mosaicism usually effect

A

sex chr

83
Q

ring chr

A

break at both ends of chr + fusion of damaged ends = 46XY, r(14)

84
Q

Inversion

A

rearrangement involving 2 breaks in 1 chr + inverted intervening segments

85
Q

isochromosome :

A

1 arm of chr is lost, remaining arm is duplicated

= chr has 2 long arms or chr has 2 short arms

86
Q

Balanced reciprocal translocation

A

1 break in 2 chr, exchange in material + no loss in material

87
Q

Roberstsonian translocation

A

translocation between 2 acrocentric chr (closer to centromere
=** transfer of 1 very large chr + 1 very small chr
= small one usually lost
= normal phenotype
= 1 in 1000 normal people

88
Q

trisomy 21 Roberstsonian translocation

A

3-4%*

  • q arm of chr 21 is translocated to another chr
  • fetus has 46chr with 3 copies of chr 21 long arm **
89
Q

SX of Trisomy 21

A
  1. epicanthal folds, slanted palpebral fissures, flat face
  2. brushfield spots on iris
  3. simian crease + clinodactyly on hands
  4. gap between big toe
  5. small hypoplastic ears
  6. fissured tongue
90
Q

Trisomy 21 Down syndrome

A

47chr

- huge maternal age factor (1/1550 under 20yo, 1 in 25 in over 45yo), since extra chr is maternal origin

91
Q

Trisomy 21 Down syndrome RISKS

A
  1. congenital heart D (40%), AVSD,**
  2. acute myeloid leukemia 500X chance, 20X chance acute B lymphoblastic leukemia
  3. Alzheimers (at 40yo almost all)
  4. serious lung or thyroid infections
92
Q

chr 21 is usually coding for

A

mitochondria functions -ROS, apoptosis
amyloid proteins - alzheimers
IncRNAs

93
Q

how to screen for congential malformations

A

maternal blood, which has 5-10% fetal blood

94
Q

Trisomy 18

A

Edwards

  • congenital heart problems
  • horse shoe kidney
  • intellectual problems
95
Q

Trisomy 13

A

Patau

  • cleft lip
  • microphthalmia
  • cardiac defects
  • renal defects
  • intellectual disability
96
Q

Chr 22q11.2 Deletion Syndrome

A
  1. DiGeorge Syndrome

2. Velocardiofacial syndrome

97
Q
  1. DiGeorges Syndrome : SX
A
  • thymic hypoplasia = T-cell immunodeficiency *
  • parathyroid hypoplasia = hypocalcemia*, cardiac malformation
  • allergic rhinitis, thrombocytopenia can be seen
  • Cleft palate
98
Q
  1. Velocardiofacial syndrome : SX
A
  • facial dysmorphism (prominent nose, retroganathia, long face, pear nose), cleft palate,
  • cardiovascular anomalies
  • learning disabilities
99
Q

Lyonization

A

inactivation of all except 1 X chr

100
Q

Lyon hypothesis

A

1 X is active

all others –> heteropyknosis, inactivate (random) = Barr body

101
Q

Barr body genes

A

most are inactive, some escape inactivation

102
Q

Klinefelter syndrome SX

A

47 XXY -> male
hypogonadism
dx after puberty
long legs, small testes, small penis, X secondary male characteristics, low spermatogenesis, gynecomastia

103
Q

Klinefelter syndrome risk for

A
  1. T2D, metabolic syndrome
  2. mitral valve prolapse
  3. germ cell tumors, teratomas
  4. breast cancer
  5. SLE
104
Q

Turner’s syndrome

A 
45 X female
Webbing of neck* + low posterior neck line*
broad chest
Streak fibrotic ovaries *
amenorrhea most common cause*
hypogonadism, short
partial monosomy
105
Q

Turners syndrome risks

A
  • some have there X chr with Y-chr genes = gonadoblastoma
  • Cystic hygroma : edema infant from lymph stasis in neck
  • Congenital heart disease (LEFT), coarctation
  • Hypothyroidism *
  • glucose intolerance, obesity, insulin resistance (few)
106
Q

Turners syndrome TX

A

estradiol given

107
Q

true hermaphrodite

A

both ovarian and testicular tissue are present

108
Q

pseudohermaphrodite

A

disagreement of phenotypic and gonadal sex

  • female pseudohermaphrodite : ovaries + male external genitalia
  • male pseudohermaphrodite : testicular tissue + female- type genitalia
109
Q

trinuclear repeats usually cause

A 
neurodegenerative disorders (usually G or C) 
= accumulation of aggragated mutant proteins in large intranuclear inclusions****
110
Q
  1. loss of function trinuclear repeat
A

Fragile X

111
Q

Toxic gain of function trinuclear repeat

A

HD

112
Q

Toxic gain of function mediated by mRNA trinucelar repeat

A

Fragile X tremor-ataxia syndrome

113
Q

Fragile X syndrome mutation in and reason it happens

A

mutated FMR1 gene trinuclear mutation with MANY CGG repeats that expand during oogenesis = loss of function

114
Q

Fragile X syndrome SX

A

-intellectual disability, aggressive, autism, anxiety, hyperactive, long face, large mandible, large up ears, large testicles (macro-orchidism), hyperflexy, mitral valve prolapse, pectus excavatum
BIG BALLS*

115
Q

Fragile X syndrome inheritance

A

gets worse in SX and starts earlier each generation (* esp when passed on from female) = anticipation

116
Q

Fragile X syndrome who is effected

A

males

females can be effected (Intellectually low)

117
Q

fragile X- associated primary ovarian failure

A

from gain of function FMR1

premature ovarian failure

118
Q

fragile X-associated tremor/ataxia

A

in 6th decade they get this from FMR1 amplification

119
Q

HD SX

A

AD
dementia, progressive movement disorder, striatal neurons degenerate , chorea,
- HTT (polyglutamine trinucleaotide repeat) *
= accumulated huntingtin
= during spermatogensis
= anticipation

120
Q

LHON (Leber hereditary optic neuropathy)

A

defect in mitochondria DNA passed from mother

  • progressive bilateral X central vision (age 15-35) = blindness
  • cardiac conduction defects
121
Q

mt diseases

A
  • threshold effect for any disorder to happen

- heteroplasmy : both normal and mutant DNA

122
Q

Prader Willi syndrome

A

intellectual problems, short, obese (cant stop eating, hypotonia, hypogonadism
CHR 15 deleted = paternally

123
Q

Angelman syndrome

A

intellectual problems, ataxia happy walk, seizures, inappropriate laughter = happy puppets
CHR 15 deleted = maternally

124
Q

imprinting can cause what 3 things

A
  1. Deletion of a chr : like chr 15
  2. Uniparental disomy : 2 chr from same parent (chr 15 both from mom - Prader willi syndrome)
  3. Defective imprinting : the maternal chr carries the paternal chr = X mom chr, or paternal carries the maternal chr = X dad chr

MOD Exam2 (8 decks)

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