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Patho > 4. Genetics > Flashcards

4. Genetics Flashcards

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1
Q

Hcuc

A
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2
Q

Structural chromosomal abnormalities Plus examples

A

Results from chromosome breakage followed by loss or rearrangement of material
Can we both AutoSome or sex chromosomes

Translocation
Isochromosomes
deletion
inversion
ring chromosome

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3
Q

Translocation plus example

A

Chronic myelogenous leukemia t(9:22)

Burkitt lymphoma t(8:14)

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4
Q

robertsonian translocation

A

May results Down’s syndrome t(14:21)

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5
Q

deletion

A

Cri du chat syndrome(del 5p or 5p-)

13q 14 (Retinoblastoma)
11p 13 (WAGR complex [Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation] ) .
22q11.2 Deletion Syndrome(DiGeorge syndrome and velocardiofacial syndrome

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6
Q

isochromosome translocation

A

Turner’s Syndrome (isochromosome of the
long arm of the X chromosome).

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7
Q

ring and inversion

A

not severe

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8
Q

Cri du chat

A

Congenital deletion on short arm of chromosome 5 (46,XX or XY, 5p−).

symptoms
microcephaly, moderate to severe intellectual disability, high-pitched crying/meowing, epicanthal folds, cardiac abnormalities (VSD).

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9
Q

Numerical Chromosomal Abnormalities

A

Is caused by a loss or a gain of chromosomes, resulting in a karyotype known as aneuploidy.

Instead of the normal diploid number of chromosomes, the karyotype may be hyperdiploid (2n+1, 2n+2, etc.) or hypodiploid (2n-1, 2n-2, etc.)

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10
Q

numbers

A

monosomy (2n-1)
trisomy (2n+1)
nullisomy (2n-2) if same chromosome
double monosomy (2n-1-1) if d/t chromosomes
tetrasomy (2n+2)
double trisomy (2n+1+1)

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11
Q

causes of aneuploidy

A

non disjunction
anaphase lag
mosaisicm

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12
Q

Trisomy 21 (Down’s Syndrome)

A

Pathogenesis
95% of maternal origin often in older women
96% nondisjunction and
4% Robertsonian translocation (e.g., 22 or 14)

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13
Q

symptoms of down syndrome

A
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14
Q

Diseases that seen with high frequency in down syndrome
hematologic-
Neurological

A

abnormal transient myelopoieis (transient leukemia) < 3 months

acute leukemia types
ALL-acute lymphoblastic leukemia > 5 years

AML-acute myeloid < 5 years

alzheimers because b amyloid precursor gene is from chromosome 21 so early alzheimers

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15
Q

trisomy 18 symptoms

A
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16
Q

trisomy 13 symptoms

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17
Q

numerical abnormality in sex chromosome

A

turnner and kleinflider

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18
Q

turner syndrome

A

1 X chromosome 45 chrom
A common cause of female hypogonadism
These women never experience puberty and do not develop secondary sex characteristics
Infertility is the norm( the second X chromosome is necessary for oogenesis and normal development of the ovary)
Isochromosome of the X chromosome 15%

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19
Q

turner syndromes list

A
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20
Q

Klinefelter’s Syndrome

A

A common cause of male hypogonadism
80% are 47,XXY
20% 48,XXXY, 49,XXXXY, or mosaic 47,XXY/46, XY
Caused by meiotic nondisjunction

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21
Q

single gene mutation part

A

tree pic

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22
Q

difference between autosomal dominant and recessive

A

tree

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23
Q

Reduced penetrance refers to

A

Reduced penetrance refers to the situation where an individual inherits a genetic mutation that causes an autosomal dominant disorder, but does not show any symptoms or signs of the disease.

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24
Q

examples of autosomal dominant

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25
marfan syndrome general
Mutation of FBN1 gene (ch15) results in defective fibrillin, a glycoprotein that forms a sheath around elastin. This protein acts like a glue in connective tissues. fibrillin also reduces TGF-B (Tissue growth factor) so no fibrillin means over production of tissue
26
marfan syndrome symptoms
MARFANS mitral valve prolapse aortic aneurysm retinal detachment FBR1 mutation Arachinodactyl n subluxated lens upward and outward plus scoliosis
27
familial hypercholestolemia general
Mutation in the low density lipoprotein (LDL) receptor gene on chromosome 19 The cholesterol levels in the blood remain high, even though the HMG-CoA reductase enzyme is inhibited by the cholesterol. This leads to a loss of feedback inhibition of HMG-CoA reductase and an increased synthesis of cholesterol. and increased phagocytosis of LDL by macrophages.
28
FHC symptoms
tendon xanthoma xanthelasma cornial arcus atheroscelerosis
29
autosomal recessive disorders example
Cystic fibrosis storage diseases- alkaptonuiria - homocysteinuria - glycogen storage disease - lipid storage disease - tay sachs disease -
30
cystic fibrosis general
Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene
31
The functions of CFTR are tissue-specific means ...?
CFTR codes for chloride and na channels so no CFTR gene means no channels in sweat glands no re absorption of na and cl to the lumen so sweat is salty in git and respa no Na and Cl secretion to the lumen so GI stuff very viscous and mucuous very viscous
32
CF symptoms
respa recurrent pnemonia (pseudomonas aergunosa) chronic bronchitis lung abscess blocked airway thick mucus GI meconeum ileus in infants malabsorption pancreatitis liver dieases secondary to bilary duct obstruction others salty sweat obstruction of vas deferens
33
storage disease example
alkaptonuria homocysteinuria
34
alkaptoneuria (ochronosis)
Deficiency of homogentisic acid oxidase (Ch 3q21-q23) results in the accumulation of homogentisic acid HA + oxygen ~ black One of the most distinctive features of alkaptonuria is darkening of the urine, which occurs due to the presence of HGA. Over time, HGA can also accumulate in the body's connective tissues, such as cartilage and tendons, leading to a condition called ochronosis. Ochronosis can cause joint pain and stiffness, as well as skin discoloration.
35
alkaptonuria symptoms
ochronosis of sclera , ear brown to black urine arthritis
36
homocysteinuria general plus symptoms
Due to deficiency of cystathionine synthetase (Ch 21q22) marfan syndrome symptoms plus mental retardation and lens downward and inward homocystein accumulate leading to atheroscelerosis
37
glycogen storage disease
15 types but type 1 2 3 5 are autosomal recessive PAS stain
38
lipid storage disease
Disorders of lipid metabolism are due to a missing lysosomal enzyme. They are a component of lysosomal storage diseases. Lipid can be stained by oil red O or Sudan Black B.
39
examples of lipid storage diseases
tay sachs disease neimann pick disease gaucher disease
40
Tay sachs disease general
lipid storage disease mutation in chromosome 15 which codes for hex A enzyme which degrades GM2 gangliosides defect in the enzyme results in the accumulation in nerve and cns
41
tay sachs disease symptoms
low muscle tone seizures progressive neurodegeneration motor mental viusal deterioration cherry red spot in macula densa
42
neimann pick disease general plus symptoms
type a and b deficiency in sphingomylinase sphingomylin accumulate in macropages and form foam cells Like Tay-Sachs disease involves the retina (cherry red spot) and central nervous system. Un like Tay-Sachs involve reticuloendothelial system (hepatosplenomegaly, lymphadenopathy, and bone marrow involvement) type c ataxia, dysarthria and psychomotor regression and increases the risk for Alzheimer disease
43
gaucher disease general
Deficiency of Glucocerebrosidase or glucosylceramidase -Ch1 glucocerebrosidase degrades glucocerebroside so deficiency causes accumulation in macrophages
44
‘Gaucher cells’
macrophages has a characteristic fibrillary or wrinkled tissue paper appearance in neimann pick faom cells with vacoules
45
gaucher disease symptoms
mainly REC so hepatosplenomegaly pancytopenia bone erosions and fractures (like femoral neck fracture) lymphadenopathy
46
summary of lysosomal storage disease
pivtutre slide 34
47
sex linked disorders charachteristics
All sex-linked disorders are X-linked and almost all are recessive No Y-linked diseases are known (males with mutations affecting the Y-linked genes are usually infertile) In males many recessive genes of the X chromosome will be expressed as if they were dominant Heterozygous females rarely express the complete phenotype (normal allele inactivation) of the disease as they have the paired normal allele An affected male does not transmit the disease to his sons, but all his daughters are carriers
48
x linked dominant and x linked recessive difference
pic
49
x linked reccesive disorders example
50
Single Gene Disorders With Nonclassic Inheritance
some single gene disorders do not follow these classic patterns of inheritance and are classified as having nonclassic inheritance.
51
examples of single gene non classic inheritance
Codominant disorders Diseases Caused by Trinucleotide-Repeat Mutations mitochondrial DNA disorders Disorder of imprinting gonadal mosaisicm
52
why is alpha 1 antitrypsin deficiency called codominant
both gene from parents should be mutated if both genes normal 100% effective anti trypsin (pM) if 1 gene deffective onely 50%+10% effective which is enough to lead normal life (pS) if both genes are mutated only 20% effective so leads to deficiency (pZ)
53
alpha 1 anti trypsin general
anti trypsin is an enzyme which reduces the activity of proteases neutrophils produce proteases to degrade infection but also in lungs they eat the elastase whic leads to panacinar emphesema anti trypsin avoids this also defected AAT builds up in liver because its produced there so causes cirrohsis chromosome 14
54
genetic anticipation
Genetic anticipation is a phenomenon in which the severity and/or age of onset of a genetic disorder tends to worsen or occur at an earlier age in subsequent generations within a family.
55
Diseases Caused by Trinucleotide-Repeat Mutations
Particularly cause neurodegenerative disorders Trinucleotides usually share the nucleotides G and C May show genetic anticipation
56
examples of diseases caused by trinucleotide repeat mutations
fragile X syndrome
57
fragile x syndrome general
mutation in FMR1 gene (fragile mental retardation gene) in that gene CGG repeats which leads to its methylation so inactivation so condensation X chromosome looks fragile in karyotype affects male mostly iq 20-60
58
fragile x chromosome symptoms
Post pubertal macroorchidism long face with a large jaw large everted ear autism mitral valve prolapse hypermobile joints (become more obvious with age) "Big testes, big face, big ears, autism, prolapsed valve, and joints that are hypermobile."
59
mitochondrial DNA disorders
Principally affect tissues with high energy requirements (e.g., the central nervous system, heart, and skeletal muscle) Transmitted only through the mother. All offspring of affected females may show signs of disease. Variable expression in a population or even within a family due to heteroplasmy
60
heterosplasmy
Heteroplasmy refers to the presence of two or more different types of mitochondrial DNA (mtDNA) within a single cell or individual. This can occur due to mutations in mtDNA that are present in some, but not all, mitochondria within a cell or tissue.
61
Leber hereditary optic neuropathy (LHON)
It is caused by mutations in mitochondrial DNA (mtDNA) that lead to a loss of function in the mitochondria within cells in the optic nerve, which can lead to optic nerve atrophy and vision loss. first noted between ages 15 and 35 also cardiac problems seen
62
Imprinting plus how
Imprinting is epigenetic process selectively inactivates either the maternal or the paternal allele of some genes. by methylation at CG nucleotide histone deacetylation methylation
63
imprinting disorder example
prader willi syndrome and angelman syndrome
64
prader willi syndrome and angelman syndrome
pic
65
gonadal mosaisicsm general

Patho (33 decks)

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