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Pathophysiology > ch 2&3: genetic diseases > Flashcards

ch 2&3: genetic diseases Flashcards

1
Q

what are the 3 main categories with genetic disease?

A
  • chromosomal abnormalities
  • mutations
  • epigenetic modifications
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2
Q

what is chromosomal abnormality? what phase does this occur in?

A
  • prophase
  • non-dividing DNA formation
  • chromatin attaches to histone proteins
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3
Q

what is a nucleosome? what makes it up?

A

DNA (chromatin) + histone

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4
Q

what is the histone’s role? what is a histone?

A
  • protein

- organize chromatin, condense, and make chromatids

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5
Q

what is a chromatid? what makes it up?

A
  • chromosome

- 2 chromatids + centromere

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6
Q

what are autosomes? what does homologous mean?

A
  • first 22 pairs out of 23

- two members are virtually identical

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7
Q

what are sex chromosomes? in females? males?

A
  • 23rd pair
  • homologous pair (XX)
  • non-homologous pair (XY)
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8
Q

what is an euploid cell? what are gametes? somatic cells?

A
  • normal number of chromosomes
  • haploid
  • diploid
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9
Q

what is a disjunction?

A

failure of sister chromatids to separate normally

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10
Q

what is the main cause of chromosomal abnormalities?

A

disjunction

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11
Q

what can a disjunction cause?

A
  • polyploid

- aneuploidy

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12
Q

what is a polyploid cell? triploidy? tetraploidy? what % end in miscarriages?

A
  • when an euploid cell has more than the diploid number
  • zygote having 3 copies of each chromosome (3n=69)
  • four copies of each (4n=92)
  • 10%
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13
Q

what an aneuploidy cell? trisomy? partial trisomy? monosomy?

A
  • a somatic cell that does not contain a multiple of 23 chromosomes
  • cell contains 3 copies of a chromosome
  • cell contains only portions of the chromosomes are copied
  • only one copy of any chromosome
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14
Q

is monosomy lethal?

A
  • can be

- depends on the certain chromosome

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15
Q

is the loss of chromosomes more serious than the duplication of chromosomes?

A

yes

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16
Q

what is autosomal aneuploidy? sex aneuploidy?

A
  • somatic cell doesn’t have a euploid formation somewhere from chromosomal pairing 1-22 (serious)
  • disorder where the 23rd pair doesn’t have euploid formation (less serious)
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17
Q

what is down syndrome AKA? what type of aneuploidy is it? how often does it occur? what are the s&s? what age does the risk go up for this?

A
  • trisomy 21
  • autosomal
  • 1:800 live births
  • mental retardation (IQ 20-70), low nasal bridge, epicanthal folds, protruding tongue, poor muscle tone, and cardiovascular problems
  • > age 35
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18
Q

who does turner syndrome occur with? what type of aneuploidy is it? what are the s&s? how is it treated?

A
  • female with only 1 X chromosome
  • sex chromosome aneuploidy
  • no ovaries (sterile), short, small boobs, wide nipples, neck webbing, and edema
  • treat with GH and estrogen
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19
Q

who does klinefelter syndrome occur with? what type of aneuploidy is it? what are the s&s? what increases the risk?

A
  • individuals with at least 2 Xs and 1 Y chromosome
  • sex chromosome aneuploidy
  • male appearance, develop female breasts, small testes, sparse body hair, long limbs
  • older age
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20
Q

what happens with chromosomal breakage? what does the telomere relationship turn to?

A
  • physiologic mechanisms usually repair the break but heals in a way of altering the structure of the chromosome
  • apoptosis and cancer
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21
Q

what disease happens with material is deleted? which chromosome is deleted? what are the s&s?

A
  • cry of the cat
  • chromosome 5
  • low birth weight, mental retardation, and microcephaly
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22
Q

is it better to have more or less genetic material?

A

more

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23
Q

what is an inversion? what is this from?

A
  • two breaks of a chromosome

- from a break that gets reversed when being repaired

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24
Q

what are translocations? what is reciprocal translocation? what is robertsonian translocation?

A
  • interchanging of material between non-homologous chromosomes
  • two chromosomes break and rejoin at an abnormal location
  • when fusion occurs at the centromere, creating a single chromosome
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25
Q

what are fragile sites? what can they cause? example of this?

A
  • areas that develop distinctive breaks or gaps when cells are cultured
  • inheritable mutations
  • fragile x syndrome
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26
Q

what is fragile x syndrome? s&s? who is it most common in?

A
  • fragile site on the x chromosome
  • large forehead and ears with an intellectual disability
  • males
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27
Q

what is a single gene disorder? what does this lead to? why is this very serious?

A
  • mutations
  • inheritable alterations to the DNA that can occur during mitosis or meiosis
  • lead to changes in amino acids sequences and therefore proteins functionality
  • serious because of homeostatic life functions of cellular replications, cellular division, transcription, and translation
28
Q

what are the 3 types of mutations?

A
  • base pair substitutions: one base pair is substituted for another
  • frameshift mutation: insertion or deletion of one or more base pairs
  • chromosome aberrations
29
Q

what is genetic inheritance determined by?

A

-mendelian genetics:; predictable patterns of inherited with garden peas

30
Q

what is the locus? allele?

A
  • locus is the position the gene has on the chromosome

- allele is the nucleotide sequence for each locus

31
Q

what is a genotype? phenotype?

A
  • “what they have”

- “what they demonstrate”

32
Q

what is dominant? recessive?

A
  • D: allele that is observable

- r: allele that is hidden

33
Q

what is a homozygous dominant? heterozygote? homozygous recessive?

A
  • RR
  • Rr
  • rr
34
Q

what is huntington disease? when does it effect someone? which chromosome is effected? what are the s&s?

A
  • autosomal dominant
  • delayed age onset (40 years old)
  • chromosome 4
  • neurologic disorder, progressive dementia, uncontrolled limb movements, and seizures
35
Q

what is retinoblastoma? where does it effect someone? which chromosome is effected? what are the s&s?

A
  • autosomal dominant
  • incomplete penetrance
  • malignant eye tumor in children
  • chromosome 13: tumor suppressor
  • pupil leukocoria, decreased vision, irritation, redness, and strabismus
36
Q

what is neurofibromatosis? where does it effect someone? which chromosome is effected? what are the s&s?

A
  • autosomal dominant
  • demonstrates expressively variations
  • chromosome 17: tumor suppressant
  • cafe-au-spots, neurofibromas, scoliosis, seizures, neuromas, hypertension, learning disorders
37
Q

what is cystic fibrosis? where does it effect someone? which chromosome is effected? what are the s&s?

A
  • autosomal recessive
  • chromosome 7: defective transport of chloride ions
  • respiratory problems, malnutrition
  • death from lung disease or heart failure by 30 years old in half of cases
38
Q

what is phenylketonuria? where does it effect someone? which chromosome is effected? what are the s&s?

A
  • autosomal recessive
  • 1 out of 15,000 births
  • chromosome 12: liver enzymes
  • untreated leads to mental retardation, microcephaly, and delayed speech
  • diet must be restricted
  • routinely screened in newborns
39
Q

who are sex x linked disorder more common in? is this dominant or recessive? can males transmit this to sons?

A
  • males
  • recessive
  • no
40
Q

what is duchenne muscular dystrophy? what is it caused by? what are the s&s?

A
  • x-linked recessive disorder
  • 1 out of 3500 males
  • dysfunction of protein dystrophin
  • caused by frameshift deletion
  • unable to walk by 10-12 years old
  • death by respiratory or cardiac failure by 20
41
Q

what is epigenetic?

A

chemical modifications altering the expression of genes

42
Q

what diseases are related to epigenetic mutations?

A
  • fragile x syndrome
  • cancer
  • muscular dystrophy
43
Q

what are some congenital disorders?

A
  • cleft lip or palate
  • clubfoot
  • congenital heart disease
  • pyloric stenosis
44
Q

what are some diseases that may occur later in life?

A
  • cancer
  • diabetes
  • hypertension
  • schizophrenia
  • coronary artery disease
45
Q

what mutation is responsible for insertion or deletion of one or more base pairs?

A

frameshift

46
Q

which type of mutation alters a single amino acid and is considered a silent mutation?

A

missense

47
Q

how many chromosomes do somatic cells contains?

A
  • 46 chromosomes

- 23 pairs

48
Q

what is it called when you have a normal number of chromosomes?

A

euploid

49
Q

what is it called when you have too many chromosomes?

A

polyploidy

50
Q

what is it called when you have 3 times chromosomes? 4 times?

A
  • triploidy

- tetraploidy

51
Q

does having too many chromosomes effect a neonate?

A

they are rarely carried to term

52
Q

what is it called when you have subtraction or addition of a particular chromosome or a set of them?

A

aneuploidy

53
Q

what is it called when you have 3 copies of one single chromosome?

A

trisomy

54
Q

what is it called when you have only one single copy of any chromosome?

A

monosomy

55
Q

what is an abnormal separation of chromosomes?

A

disjunction

56
Q

what usually causes a disjunction?

A

aneuploidy

57
Q

autosomal aneuploidy is common on which chromosomes?

A
  • 13
  • 18
  • 21
58
Q

what is the best known example of aneuploidy? what is it aka?

A
  • down syndrome

- trisomy 21

59
Q

a male presents at a clinic complaining of breast development. after you examen you also document that his testes are underdeveloped and he has overly long limbs. what do you suspect?

A

klinefelters

60
Q

what can cause changes in the chromosomal structure?

A
  • breaks
  • deletion
  • duplication
  • inversion
  • translation
  • fragile sites
61
Q

cri du chat or “cry of the cat” causes low birth weight, mental retardation, and microcephaly and is due to which abnormality?

A

deletion

62
Q

what is robert sonian translocation?

A

an abnormality that occurs when chromosomes fuse at the centromere forming a single chromosome

63
Q

what is a gene?

A

a single area on a chromosome

64
Q

what is a genotype? phenotype?

A
  • a person’s genetic material

- a person’s physical or observable traits

65
Q

what is an allele? what is it called when it is observable? how about when it is hidden?

A
  • one member of a pair of genes located on a chromosome
  • dominant
  • recessive

Pathophysiology (10 decks)

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