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patho nursing > genetic mutations > Flashcards

genetic mutations Flashcards

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1
Q

what is a gene

A

fundamental unit of info storage
blueprints of protein synthesis
strands of DNA

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2
Q

what are chromosomes made of

A

genes

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3
Q

what is DNA

A

where genetic info is stored

genes are composed of DNA

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4
Q

what are the 2 purines

A

adenine and guanine

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5
Q

what are the 2 pyridmidines

A

thymine and cytosine

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6
Q

what goes with adenine

A

thymine

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7
Q

what goes with guanine

A

cytosine

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8
Q

how many chromosomes are in somatic cells

A

46

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9
Q

how many chromosomes are in gametes

A

23

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10
Q

what are somatic cells

A

non sex cells

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11
Q

what are gametes

A

sex cells (sperm or ova)

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12
Q

what is a genetic mutation

A

an error in duplication of DNA that is either inherited or obtained

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13
Q

what are the two types of single gene disorder

A

basepair substitution

frameshift mutation

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14
Q

what is basepair substitution

A

a different pair is substituted for the normal pair in the DNA

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15
Q

what is frameshift mutation

A

either insertion or deletion of 1+ base pairs in the DNA

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16
Q

what are the two types of frameshift mutation

A

frameshift mutation with one base pair DELETED

frameshift mutation with one base pair INSERTED

17
Q

what is a genotype

A

describes the exact genetic constitution of a person (ALL DNA)

18
Q

what is a phenotype

A

the measurable EXPRESSION of genes in a person (i can see that i have blonde hair)

19
Q

how are chroms found in somatic cells

A

they are paired with matching genes

20
Q

what are alleles

A

alternative forms of a gene at a given place on the pair of chroms
two alleles per gene- one from each parrent

21
Q

what is homozygous

A

two alleles are identical for the same trait(brown, brown)

22
Q

what is heterozygous

A

two differing alleles for the same trait (brown, blonde)

23
Q

what is an unaffected carrier

A

recessive trait can be hidden by dominant (Tt)

24
Q

what are autosomal dominant and autosomal recessive disorders

A

non sex linked disorders

25
Q

what is autosomal dominant

A

abnormal allele is dominant

26
Q

what are the characteristics of autosomal dominant

A
  1. males=Females
  2. no skipping of generations
  3. affected heterozygous individuals have a 50% change to transmit trait to each ofspring
27
Q

what is autosomal recessive

A

abnormal allele is recessive and need 2 recessive traits in order to be expressed
(Tt can be unaffected carriers)

28
Q

what are the characteristics of autosomal recessive

A
  1. males=females
  2. usually skips a generation
  3. both parents of an affected child are carriers
29
Q

of the 23 pairs of chromosomes that make up the karyotype of an individual…

A

22 are autosomes and one pair is sex chromosomes

30
Q

females inherit how many X chroms

A

two

31
Q

females inherit how many x chroms

A

one from the mother

32
Q

what are the characteristics of x linked dominant

A
  1. males=females
    2, on males, traits either dominant or recessive are expressed as phenotype
  2. usually affective dads have unaffected sons but affected daughters (because sons dont get an x from their dads)
  3. Hetero moms have a 50% chance of transmitting the trait to each daughter or son
33
Q

if a dad is mutated, his son…

A

wont be affected

34
Q

what are the characteristiscs of x linked rececssive

A
  1. males > females (females have another X to mask)
  2. affected dads cannot transmit to sons but do to all daughters
  3. sons of mom carriers have 50% of being affected
  4. Daughters of mom carriers have 50% of being affected
35
Q

what is nondsjunction

A

failure of one + pairs of chroms to separate and seg during meotic division and both chroms end up in one daughter cell getting all of them while the other daughter cell gets none

36
Q

what are chromosome disorders

A

loss or gain of chrom sets
may be either numeric or structural
may affect either autosomes or sex chroms

patho nursing (4 decks)

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