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N DMD 5246 > Genetic Disorders-Bickmen > Flashcards

Genetic Disorders-Bickmen Flashcards

1
Q

Somatic cells

A

contain 46 chromosomes

23 pairs

diploid

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2
Q

Gametes

A

contain 23 chromosomes

haploid

one member of each chromosome pair

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3
Q

Meiosis

A

formation of hapliod celld from diplios cells

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4
Q

Autosomes

A

the first 22 of the 23 pairs of chromosomes

the two members of each pair are idetical (homologus)

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5
Q

sex chromosomes

A

remaining pair of chromosomes

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6
Q

karyotype

A

ordered display of chromosome

(Picture )

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7
Q

chromosomes mutations def

A

any inheritied alteration of genetic material

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8
Q

types of mutations

A

base pair subsitiution

frame shift mutation

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9
Q

base pair mutation

A

one base pair is substituted for another

  1. silent
  2. missense
  3. nonsense
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10
Q

frame shift mutation

A

insertion or deletion of one or more base pairs

causes a change in the readin frame

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11
Q

Non-mutation chromosomal alterations

A
  1. Polymorphisms
  2. Epigenetic changes
  3. Alterations in non-coding RNAs
  4. Translocation (leukemia, philly chomosome)
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12
Q

polymorphisms

A

Non-mutation alteration

  1. abnormal number of copeis of one or more sections of DNA
  2. single nucleotide polymorphisms (SNP)
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13
Q

what is the difference between an SNP and point mutation

A

point mutation occurs in less than 1% of the population

SNP occurs in more that 1% of the population- common varation in single mucletotide

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14
Q

epigenetics

A

non muation alteration

non DNA changes

alterations in gene or protein expression

environmental

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15
Q

alterations in Non-coding RNAs

A

non-mutatoin alteration

regulating genes that do not code for proteins

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16
Q

translocation

A
  1. non mutation alteration
  2. interchanging of material between non homologous chromosomes
  3. when two chomosomes beak and the segments are rejoined in an abnormal arrangement
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17
Q

Euploid Cells

A
  • Has the normal number of chromosomes
  • Different for hapliod vs. diploid
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18
Q

Polyploid cell

A

cell has a multiple of 23

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19
Q

examples of polyploid

A
  • Triploidy: three copies of each chromosome (69= 3x23)
  • Tetraploidy: four copies of each chromosome (92=4x23)

both are embryonic lethal (10% of miscarriges)

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20
Q

Aneuploidy

A

a somatic cell that does not contain a multiople of 23 chromosomes

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21
Q

types of aneuploidy

A
  • trisomy: 3 copies of one chromosome is thrisomic
  • monosomy: 1 copy of any chromosome in monosomic

monosomy is usually lethal

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22
Q
A
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23
Q

better to have …

A

too many than too few chromosomes

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24
Q

disjunction

A

normal separation of chromosomes during cell division

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25
Q

Nondisjunction

A
  • usally in aneuploidy
  • failure of the homologous chromosomes or sister chromatids to separate in meiosis or mitosis
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26
Q

chromosome aberrations

A
  1. Nondisjunction
  2. aneuploidy
  3. polyploid
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27
Q

If a human fetus has 45 chromosomes in it’s cell it would be called a___ and would be a result of _____

A

Aneuploidy

Monosomy

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28
Q

Types of autosomal aneuploidy

A
  1. Trisomy 13, 18, 21
    2.
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29
Q

Trisomy 13

A

Autosomal Aneuploidy

Patau Syndrome

  • Polydactyly
  • Mental retardation
  • microcephaly
  • usually leathal early in life due to heart deformities
  • Dental Features: celft lip and palate
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30
Q

Trisomy 18

A

Autosomal Aneuploidy

Edwards Syndrome

  • Kidney malformation
  • protruding intestines
  • mental retardation
  • small size
  • Usually leathal early on due to heart defects
  • Dental features: Micrognathia
31
Q

Trisomy 21

A

Autosomal Aneuploidy

Down Syndrome

  1. Risk increases with parental age
  2. Maxillary retrognathia (depressed mand)
  3. enamel hypoplasia
  4. irregular placement of teeth
  5. severe periodontal disease
  6. delayed eruption
32
Q

Trisomy X

A

Sex chromosome Aneuploidy

  • Lyonization: little physical manifestation
  • variable symptoms: sterility, menstrual irregularity, mental retardation
  • symptoms worsen with each additional X

XXX→ usually no symtoms, only one X is active

33
Q

Turner Syndrome

A

Sex Chromosome Aneupliody

  • Only one X chromosome →XO Female
    • underdeveloped ovaries (removed bc they are cancerous)
    • Short
    • webbing of the neck
    • Edema
    • shield chest
    • out-turned arms
    • low hairline at back of the neck
34
Q

Klinefelter Syndrome

A

Sex chromosome aneuploidy

  • At least two X and one Y chomosome →XXY
  • abnormalities increase with each X → XXXY, XXXXY
    • Male appearance
    • can be fertile
    • at puberity, breast and hip development
    • underdeveloped male genitals
    • long limbs
35
Q

Klinefelter syndrome

dental feature

A

Taurodontism-conditon of molars wherein the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots

36
Q

Which of the following is an example of trisomy? Is it sex chromosome or autosomal ?

A. Fragile X

B. Turner Syndrome

C. Klinefelter Syndrome

D. Cri du chat Syndrome

A

klinefelter

Sex chromosome

37
Q

Normal, Genetics

A

Does not have a disease gene and not a carrier, phenotypically normal

Recessive Disease= AA

Dominant Disease= aa

38
Q

Carrier

A

Has disease gene and is phenotypically normal, not affected by it

Recessive disease=Aa

39
Q

Affected

A

Has a disease gene and is phenotypically affected

Recessive Disease= aa

Dominant Disease= Aa/ AA

40
Q

For a person to demonstrate a recessive disease the

A

pair of recessive genes must be inherited

41
Q

Genetic Pedigrees

A

used to study specific geneitic disorders within families

(female=circle and male=square)

42
Q

Risk of occurance

A

the prob of having a child with a genetic disease

43
Q

Autosomal Dominant

A
  • abnormal allele is Dominant
  • normal allel is recessive
  • two sexes exhibit the trait in equal proportions
  • no generation skipping

Normal and Affected

44
Q

Autosomal Recessive

A
  • Abnormal allele is recessive
  • homozygous for abnormal trait to express disease
  • Affects genders equally
  • May skip generations

Carrier, Normal, and Affected

45
Q

Sex-linked Dominant

A

Abnormal allele is Dominant

sex matters

normal and affected

46
Q

Sex linked recessive

A

abnormal allele is recessive

sex matters

carrier, normal, affected

47
Q

Achondroplasia

A

most common form of dwarfism

autosomal disorder

48
Q

Marfan Syndrome

A

Autosomal Dominant Disorder

  • Abnormality of fibrillin 1 (elastic fibers)
  • Disorder of connective tissue
  • tall with long extremities
  • bilateral subluxation of the eye lens (ectopica lentis)
  • Cardiovascular Lesions: mitral valve prolapse
  • Dental: increased risk of caries and cleft palate
49
Q

Ehlers-Danlos Syndrome

A

Autosomal Dominant

defects in collagen

  • skin and joint hypermobility
  • easy bruising
  • Gorlin’s Sign
50
Q

Treacher Collins Syndrome

A

Autosomal Dominant

abnormal dev. of 1st and 2nd branchial araches

  • underdeveloped mandible
  • downward slanting palpebral fissures
  • Deformed ears
  • possible cleft palate
51
Q

Penetrance

A

% of individuals with a specific genotype who also ecpress the expected phenotype

52
Q

Incomplete penetrance

A

Autosomal

Individual who has the gene for a disease but does not express the disease

53
Q

example of incomplete penetrance

A

Retinoblastoma (eye tumor in children)

demonstrates incomplete penetrance (90%)

54
Q

Expressivity

A

variation in a phenotype associated with a cetain genotype

55
Q

Examples of Expressivity

A

Autosomal Dominant

Neurofibromatosis (von Recklinghausen disease)

  • varies from dark spots on the skin to malignant neurofibromas, scoliosis, gliomas, neuromas, etc.
56
Q

Autosomal recessive disorder occurence risk

A

when two parents are carriers of an autosomal recessive disease

(risk 25%)

58
Q

Autosomal recessive Disorder genotypes

A

normal: DD

Carrier: Dd

affect: dd

59
Q

increase risk of autosomal recessive disorder

A

consanguinity (insest)

60
Q

Autosomal recessive disorders storage diseases

A

Lysosomal

Glycogen

61
Q

Lysosomal Storage Diseases

A

Autosomal Recessive

  1. Gaucher’s
  2. Tay-Sachs
  3. Niemann-Pick

deficiency of a particular lysosomal enzyme or protein resulting in an accumulation of a metabolite

62
Q

Gaucher’s disease

Deficient enzyme:

Accumulating Metabolite:

Cell Affected:

A

Austosomal Recessive- Storage Diseases

  • Deficient enzyme: Glucocerebrosidase
  • Accumulating Metabolite: Glucocerebroside
  • Cell Affected: Macropage

Enlarged macrophage in the spleen

63
Q

Tay-sachs

Deficient enzyme:

Accumulating Metabolite:

Cell Affected:

A

Autosomal Recessive- storage diseases

  1. Deficient Enzyme: Hexosaminidase A
  2. Accumulating Metabolite: G Ganglioside
  3. Cells affected: Neurons

leads to motor and mental deficits, blindness, dementia

enlarged pale neurons

64
Q

Niemann-Pick disease

A

Autosomal Recessive lysosomal storage disease

  • Deficient enzyme: Sphingomyelinase
  • Accumulating Metabolite: Sphingomyelin
  • Cell Affected: Neurons and phagocytes

Kupffer cells have foamy appearance

65
Q

Storage Disease-Glycogen

autosomal recessive disorder

A
  1. von Gierke’s disease (type I)
  2. Pompe’s disease (type II)
  3. Cori’s disease (type III)
  4. Brancher Glycogenosis (type IV)
  5. McArdle’s syndrome (type V)

alteration in enzymes responsible for glycogen metabolism

66
Q

von Gierke’s

A

Autosomal Recessive Glycogen storage

Type I

deficient enzyme: Glucose 6-phosphatase

Tissue affected: Liver and kidney

foamy hepatacytes

67
Q

Pompe’s disease

A

autosomal recessive storage glycogen

Type II

Deficient Enzyme: Lysosomal glucosidase

Tissue affected: Heat

Large vacuales in cardiomyocytes

68
Q

Cori’s disease

A

Autosomal recessive glycogen storage disease

Type III

Deficient enzyme: debranching enzyme

Tissue affected: Heart, liver, skeletal muscle

enlarged hepatocytes

69
Q

Brancher Glycogenosis

A

Autosomal Recessive glycogen storage disease

Type IV

Deficient Enzyme: Branching Enzyme

Tissue affected: Heart, liver, skeletal muscle, brain

enlarged hepatocytes

70
Q

McArdle’s Syndrome

A

Autosomal recessive glycogen storage disorder

Type V

Deficient Enzyme: Muscle phosphorylase

Tissue Affected: Skeletal Muscle

Large vacuales in myocytes

71
Q

Chediak-Higashi Syndrome

A

Autosomal recessive Disorder

mutation of lysosomal trafficking regulator gene (LYST)

  • Partial albinism
  • Photophobia
  • Compromised immunity
  • neuropathy

Fusion of lysosomal granules

72
Q

X-linked disorders

A
  • Recessive
  • affected males cannot transmit the genes to sons but will to ALL daughters
  • sons of female carriers have a 50% risk of being affected
73
Q

Sex-linked disorders examples

A

Hemophilia A

Hemophilia B

Duchenne Muscle Dystrophy

color blindess

74
Q

what would be the occurrence risk for color blindness in the daughter of a female carrier and a normal father?

N DMD 5246 (6 decks)

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