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Patho > 4. Genetics > Flashcards

4. Genetics Flashcards

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

A
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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

A
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25
Q

marfan syndrome general

A

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

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26
Q

marfan syndrome symptoms

A

MARFANS
mitral valve prolapse
aortic aneurysm
retinal detachment
FBR1 mutation
Arachinodactyl
n
subluxated lens upward and outward plus scoliosis

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27
Q

familial hypercholestolemia general

A

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
Q

FHC symptoms

A

tendon xanthoma
xanthelasma
cornial arcus
atheroscelerosis

29
Q

autosomal recessive disorders example

A

Cystic fibrosis
storage diseases- alkaptonuiria
- homocysteinuria
- glycogen storage disease
- lipid storage disease - tay sachs disease
-

30
Q

cystic fibrosis general

A

Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene

31
Q

The functions of CFTR are tissue-specific means …?

A

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
Q

CF symptoms

A

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
Q

storage disease example

A

alkaptonuria
homocysteinuria

34
Q

alkaptoneuria (ochronosis)

A

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
Q

alkaptonuria symptoms

A

ochronosis of sclera , ear
brown to black urine
arthritis

36
Q

homocysteinuria general plus symptoms

A

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
Q

glycogen storage disease

A

15 types
but type 1 2 3 5 are autosomal recessive
PAS stain

38
Q

lipid storage disease

A

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
Q

examples of lipid storage diseases

A

tay sachs disease
neimann pick disease
gaucher disease

40
Q

Tay sachs disease general

A

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
Q

tay sachs disease symptoms

A

low muscle tone
seizures
progressive neurodegeneration
motor mental viusal deterioration
cherry red spot in macula densa

42
Q

neimann pick disease general plus symptoms

A

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
Q

gaucher disease general

A

Deficiency of Glucocerebrosidase or glucosylceramidase -Ch1
glucocerebrosidase degrades glucocerebroside
so deficiency causes accumulation in macrophages

44
Q

‘Gaucher cells’

A

macrophages has a characteristic fibrillary or wrinkled tissue paper appearance
in neimann pick faom cells with vacoules

45
Q

gaucher disease symptoms

A

mainly REC so
hepatosplenomegaly
pancytopenia
bone erosions and fractures (like femoral neck fracture)
lymphadenopathy

46
Q

summary of lysosomal storage disease

A

pivtutre slide 34

47
Q

sex linked disorders charachteristics

A

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
Q

x linked dominant and x linked recessive difference

A

pic

49
Q

x linked reccesive disorders example

A
50
Q

Single Gene Disorders With Nonclassic Inheritance

A

some single gene disorders do not follow these classic patterns of inheritance and are classified as having nonclassic inheritance.

51
Q

examples of single gene non classic inheritance

A

Codominant disorders

Diseases Caused by Trinucleotide-Repeat Mutations

mitochondrial DNA disorders

Disorder of imprinting

gonadal mosaisicm

52
Q

why is alpha 1 antitrypsin deficiency called codominant

A

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
Q

alpha 1 anti trypsin general

A

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
Q

genetic anticipation

A

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
Q

Diseases Caused by Trinucleotide-Repeat Mutations

A

Particularly cause neurodegenerative disorders
Trinucleotides usually share the nucleotides G and C
May show genetic anticipation

56
Q

examples of diseases caused by trinucleotide repeat mutations

A

fragile X syndrome

57
Q

fragile x syndrome general

A

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
Q

fragile x chromosome symptoms

A

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
Q

mitochondrial DNA disorders

A

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
Q

heterosplasmy

A

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
Q

Leber hereditary optic neuropathy (LHON)

A

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
Q

Imprinting plus how

A

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
Q

imprinting disorder example

A

prader willi syndrome and angelman syndrome

64
Q

prader willi syndrome and angelman syndrome

A

pic

65
Q

gonadal mosaisicsm general

A

Patho (33 decks)

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