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genetic disease Flashcards

1
Q

how many chromosomes are in the human body

A

22 pairs of autosomes

1 pair of sex chromsomes

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2
Q

how many genes encode Pr

A

20,000 protein encoding genes

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3
Q

what is the roll of non protein encodeing genes

A

Control of the protein-encoding genes

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4
Q

what is it when 1 chromsome is different from the other

A

Heterozygous

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5
Q

when both chromosomes are affected at a given locus

A

Homozygous

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6
Q

what is a mutation

A

a permant change in the DNA

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7
Q

what happens if a mutation is in a germ cell

A

Can be inherited

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8
Q

what happens if a mutation affects somatic cells

A

Results in tumor or developmental abnormality

- can be cancerous, death, sublethal, or change the cell

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9
Q

what is a point mutation

A

Single base substituted

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10
Q

what is a frameshift mutation

A

Insertion/deletion of 1-2 base pairs

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11
Q

what is a trinucleotide repeat

A

amplification of a 3 nucleotide sequence

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12
Q

what kind of mutation is a Fragile X syndrom

A

Trinucleotide repeat

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13
Q

what is the ultimate result of a frame shift mutation

A

change in the reading frame

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14
Q

what kind of mutation is sickle cell anemia

A

Point mutation (missense mutation)

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15
Q

what are the types of polymorphisms

A

SNPS

Copy number variation

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16
Q

what is the most common type of Polymorphism

A

SNPs

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17
Q

where are most SNPs found

A

within exons, introns, or intergenic regions

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18
Q

what can SNPs be markers for

A

Multigenic complex disease

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19
Q

what is a copy number variation

A

Different number of large cont. stretch of DNA

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20
Q

where is copy number variation found

A

1/2 gene-coding sequences

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21
Q

what is the effect of copy number cariation being involed in gene coding sequences

A

Account for phenotypic variation

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22
Q

what aside from mutations can inmpact Protein-coding gene function

A

Polymorphisms
Epigenetic
changes
Alterations in non-coding RNAs

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23
Q

what are epigenetic changes

A

Modulation of gene expression without altering DNA sequence

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24
Q

when are epigenetic changes important

A

Development

Homeostasis

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25
Q

what are epigenetic changes that occur to alter protein coding genes

A

methylation of promoter region makes inaccessible to RNA polymerase, ruducing PR synth

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26
Q

what is the action of MiRNA’s

A

Inhibit translation of their target messenger RNAs into corresponding Proteins
- via suppression/ destruction

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27
Q

what are some alterations in non-coing RNA;s

A

microRNAs

Long non-coding RNAs (IncRNA)

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28
Q

what are the actions of Lon non-coding RNAs

A

Control/repression/regulate DNA expression

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29
Q

what cleaves PRe-miRNA to 2 miRNA

A

Dicer

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30
Q

what does miRNA bind to after being cleaved

A

Silencing Complex

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31
Q

what happens if there is an imperfect match between miRNA and mRNA

A

represses by decreasing transcription

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32
Q

what happens if there is a perfect match between miRNA and mRNA

A

mRNA is cleaved leading to silencing

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33
Q

what are the types of Mendelian disorders

A

Autosomal Dominany
Autosomal Recessive
Sex-linked (x linked) disorder

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34
Q

what are the types of Genetic disorders

A

mendelian
Multifactoral (polygenic)
Cytogenetic (Chromsomal aberrations)

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35
Q

how many genes are affect in medelian disorders

A

Single gene

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36
Q

what do genes do

A

Contain info to produce proteins that perform specific functions

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37
Q

what does mutation lead to

A

Production of abnormal protein

- may alter phenotype

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38
Q

does each mutation lead to a different phenotype

A

nope, may lead to the same phenotypic alteration

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39
Q

what chromsomes are affected in autosomal dominant disorders

A

one of the autosomes

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40
Q

what is the inheritance of autosomal dominant disordrs

A

Heterozygous state

  • one parent affected
  • half the offspring get disease
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41
Q

when does Autosomal dominant disorders show themsleves

A

outward physical change

- delayed age of onset

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42
Q

what kind of disorder is huntingtons diseaes

A

Autosomal dominant

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43
Q

what is reduced or incomplete penetrace

A

Person has a mutant gene, but doesn’t or only partially expresses it phenotypically

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44
Q

what is variable expressivity

A

trait seen phenotypically in all individuals ahving the mutant gene
- differntly expressed in individuals

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45
Q

what is a de novo mutation

A

affected individuals may not have affected parents because disease arose from new mutation

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46
Q

what kind of disease in Neurofibromatosis

A

AD disease

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47
Q

how often does Neurofibromatosis show it self

A

100% penetrance

variable expressivity

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48
Q

Commonness of neurofibromatosis

A

1/3000 live births

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49
Q

what is the largest group of mendelian disorders

A

Autosomal recessive disorders

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50
Q

what is the inheritance of autosomal recessive disorders

A

Homozygous

  • parents usually appear unaffected
  • 25% offspring affected
  • 50% offspring carriers
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51
Q

what happens if the recessive gene is rare in a population

A

disorder may be a result of being from the same blood line (incest)

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52
Q

what does an autosomal recessive disorder do to the proteins

A

Enzyme defect, leading to metabolic dysfuntion

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53
Q

what is the effect of an autosomal recessive disorder on a carrier

A

Unaffected clinically, but may have reduced but adequate leaves of normal functional enzyme

54
Q

how does autosomal disorders show themselves

A

early in life
complete penetrance
little variability

55
Q

what chromosome are sex-linked disorders found on

A

All on the X chromsome

56
Q

what is the only important gene on the Y chromsosme

A

SRY - sex determining region

- also hairy ears possibly

57
Q

do X-linked diseases tend to be dominant or recessive

A

Dominant

58
Q

why might heterozygous females show X-linked diseases

A

Unfavorable lyonization

59
Q

when do X-linked diseases tend to express themselves

A

Earlier

60
Q

what is Lyonization

A

either X chromosome may be inactivated at 16 days after conception. all progeny of that cell will have the same inactivated X chromosome.

61
Q

what does the inactivated chromosome in females become

A

Barr body

62
Q

who and when was lyonization found

A

mary lyon in 1962

63
Q

what is unfavorable lyonization

A

inactivation of an abnormally high percentage of normal X chrosomes leading to clinical evidence of recessive disease in a heterozygous females

64
Q

what is the heritability of margan syndrome

A

Autosomal Dominant dissorder

65
Q

what does margan syndrome do

A

Connective tissue disorder of FBN1 gene leading to abrnoaml fibrilin

66
Q

what is the use of fibrillin

A

Glycoprotein needed for elastic fiber production

67
Q

commonness of marfan syndrom

A

1:5000

68
Q

what are the clinical signs of marfan sydrome

A

Thin, tall body habitus with abnormally long legs, arms, and fingers (arachnodactyl)
Dislocation of lens of eyes

69
Q

what is the problem with marfan syndrome

A

Aortic aneurysm/dissection leading to heart failure and aortic ruption
blood vessels lack strength

70
Q

what are the types of EHlers-Danlos syndromes

A

6 clinical types with dominant and recessive forms

71
Q

what is the problem caused by Ehlers-danlos syndromes

A

problem with collagen synthesis

72
Q

clinical signs of ehlers-Danlos syndromes

A 
Hyperextensible skin and hypermobile joints
Skin fragility and delayed wound healing
Rupture of colon, large arteries
Hernias
 - problem with wound healing
73
Q

commonness of Familial hypercholesterolemia

A

1:500 (Common)

74
Q

what mutation causes Failial hypercholesterolemia

A

LDL receptor mutation

75
Q

what does the LDL receptor mutation in familial hypercholesterolemia lead to

A

impaired metabolism and increased LDL cholesterol in the plasma

  • xanthomas of skin
  • premaure atherosclerosis
76
Q

hertability of Familial hypercholesterolemia

A

heterozygous: 2-3x more cholesterol level
Homozygous: 5x more cholesterol
- autosomal dominant

77
Q

what is used to treat Familial hypercholesterolemia homozygous individuals

A

lomitapide

78
Q

what are xanthomas

A

yellow papulomas at joints

79
Q

what is the problem with homozygoud familial hypercholesterolemia

A

Leads to heart attacks at 20 years old

80
Q

what is the problem with cysteic fibrosis

A

Chloride channel protein

81
Q

heritability of phenylketonuria

A

Autosomal recessive

82
Q

how prevelant is phenylketonuria

A

1:10,000 caucasian babies

83
Q

what enzyme is affect from phenylketonuria

A

lack of phenylaninine

84
Q

what does phenylketonuria lead to

A

Hyperphenylalanimia

PKU

85
Q

how does Phenylketonuria manifest during life

A
  • Infants are normal at birth
  • elevated phenylalanine impair brain development
  • metal retardation at 6months
86
Q

who do we prevent phenylketonuria in the USA

A

screen newborns at birth is mandated
restrict diet of phenylalanine
- will live a normal life then

87
Q

how are storage disease transmitted

A

Autosomal recessive

88
Q

who is affected by storage disease

A

Infants and young children

89
Q

what does a storage disease lead to

A

Accumulation of large insoluble molecules (sphingolipids, mucopolysaccharides) in macrophages
- leads to hepatosplenomegaly

90
Q

what system may get affected by storage disease

A

CNS

91
Q

CNS involvement in storage disease leads to what

A

neuronal damage
mental retardation
early death

92
Q

what are types of lysosomal storage disease

A

Tay-sachs disease
Niemann-Pick disease
Gaucher disease
Mucopolysaccharidoses

93
Q

what is the hertability of mucopolysaccharides storage disease

A

Autosomal recessive (mostly)

94
Q

what causes Mucopolysaccharide storage disease

A

Lack of any one of the enzymes needed to degrade mucopolysaccharides

95
Q

what is the clinical signs of mucopolysaccharide storage disease

A

coarse facial features
clouding of cornea
Joint stiffness
mental retardation

96
Q

how is Hurler disease (MPS type 1) transmitted

A

Autosomal recessive

97
Q

what causes Hurler Disease (MPS type I)

A

Deficiency of alpha-L-iduronidase (Iaronidase)

98
Q

how long can you live with Hurler disease (MPS type I) if untreated

A

6-10 years

99
Q

how to treat hurler disease (MPS type I)

A

bone marrow transplant
enzyme replacement
- won’t fix all of the disease

100
Q

cost of enzyme for Hurler disease(MPS type I)

A

greater than 300k

101
Q

how is Hunter sdnrome passed down

A

X-linked

102
Q

what cuases Hunter syndrome

A

deficiency of L-iduronate sulfatase

103
Q

what are the symptoms of hunter syndrome

A

Absence of corneal clouding and milder clinical course

similar to Hurler syndrome

104
Q

what are multifactorial (polygenic) disorders

A

2+ genes respondible

environmental also

105
Q

what disease do multifactorial disorders tend to cause

A 
Diabetes
hypertension
gout
schizophrenia
bipolar...
106
Q

what is found in a normal karyotype

A

22 autosome pairs
1 sex chromosome pair
46 total

107
Q

how common is a chromosomal abnormality

A

1:200

108
Q

how often does chromosomes cause 1st trimetster spontaneous abortions

A

50%

109
Q

what is a normal chrosomsal count

A

euploid

110
Q

what is an increase in the number of chromosomes by multiple of the number normally seen (i.e 23x3 or 23x4)

A

polyploidy

111
Q

what does polyploidy lead to

A

Spontaneous abortion

112
Q

any number of chromosomes that is not a multiple of the normal chrosome

A

Aneuploidy

113
Q

extra chromosome

A

Trisomy

114
Q

absence of a chromsome

A

Monosomy

115
Q

what do structural abnormalities often result from

A

when chromosome breakage is followed by a loss or rearrangement of material

116
Q

what is the transfer of a part of one chromsome to another nonhomologous chromosome

A

Translocation

117
Q

when fragments are exchnaged between 2 chromosome

A

reciprocal translocation

118
Q

loss of a part of a chromosome

A

deletion

119
Q

when a chromosome breaks in two points, then the release fragment is reunited after a complete turnaround

A

Inversion

120
Q

what disease does trisomy 21 causes

A

Down sydnrome

121
Q

what is the most common chromosomal disorder

A

trisomy 21

122
Q

what causes downs to increase

A

advanced maternal age
<20 1:1550
>45: 1:25

123
Q

what causes trisomy 21

A

meiotic non-disjunction of chromosome 21 during ovum formation

124
Q

clinical signs of trisomy 21

A

mental retardation
epicanthic folds
flat facial profile
cardiac malformations
increased susceptibility to infection (including severe periodontal disease in children)
large tongue
increased prevalence of acute leukemia(10-20 times more likely)

125
Q

what is klinefelter syndrome

A

Male hypogonadism when there are at least 2 X chromosomes and Y+ you chromosome (47 XXY)

126
Q

what is turner syndrome

A

Female hypogonadism partial or complete absence of one of the X chromosomes (45, X)

127
Q

are klinefelter patients phenotypically male or female

A

Male

128
Q

clinically how does klinefleter affect people

A

Increased length of lower limbs
reduced body hair
gynecomastia
Hpogonadism (most common cause of male sterility)

129
Q

how does klinefleter affect dental

A

Taurodontism ( enlarged tooth pulps)

130
Q

clinical sings of turner syndrome

A

Markedly short stature
webbing of neck
low posterior hairline
shield like chest
high-arched palate
variety of congenital cardiovascular malformations
failure to develop secondary sex characteristics; primary amenorrhea

131
Q

when should you do prenatal genetic analysis

A

mother’s age greater than 34 years
parent is a carrier of a chromosomal translacation of X linked disorder
History of a perivous child with chromosmal abnormality

132
Q

when should you do a postnatal genetic analysis

A 
Multiple congenital anomalies
unexplained mental retardation and/developmental delay
suspected aneuploidy 
suspected sex chromosomal abnromality
infertility
multiple spontaneous abortions

general path (16 decks)

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