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ALTERED PHYS mid1 > Genetics and Disease > Flashcards

Genetics and Disease Flashcards

1
Q

What is the copying of DNA info to an RNA strand?

A

transcription

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2
Q

What is the process by which that RNA strand becomes a protein?

A

translation

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3
Q

What is a group of 3 bases that code for a polypeptide?

A

codon

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4
Q

What are the two pyrimidine bases?

A

cytosine and thymine

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5
Q

What are the two purine bases?

A

adenina and guanine

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6
Q

What is the mutation that changes 1 amino acid in polypeptide called?

A

missense

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7
Q

What happens when a stop codon is created, shortening the polypeptide?

A

nonsense

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8
Q

What produces a totally different polypeptide?

A

frameshift

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9
Q

What are intercalating agents?

A

flat, planar molecules that intercalate between base pairs

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10
Q

What part of UV light links adjacent thymine in the same strand?

A

photodimers

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11
Q

When does excision repair occur?

A

before replication, during transcription

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12
Q

What is the enzyme that binds to photodimers to split the thymines, repairing the strand?

A

photolyase

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13
Q

What chromosomes are diploid (46 chromosomes in 23 pairs)

A

somatic chromosomes

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14
Q

What chromosomes are haploid (23 chromosomes unpaired?)

A

gametes

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15
Q

Are autosomes homologous?

A

yes

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16
Q

What is an abnormal number of a single chromosome?

A

aneuploidy

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17
Q

What is the difference between monosomy and trisomy?

A

monosomy - loss of chromosome material; trisomy - extra chromosome material

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18
Q

Down syndrome occurs on what chromosome number?

A

21 (trisomy)

19
Q

What is the primary cause of aneuploidy?

A

nondisjunction

20
Q

What do you call reversal during reattachment?

A

inversion

21
Q

What causes broken chromosomes - low birth weight, retardation, microcephaly?

A

deletions in the chromosomes

22
Q

What are the complementary base pairing?

A

AT - CG

23
Q

what is the position of a gene along a chromosome?

A

locus

24
Q

What is a different form of a gene?

A

allele

25
Q

What is used to study specific genetic disorders within families?

A

pedigrees

26
Q

How does a recessive trait gets transmitted?

A

2 carrier parents, or 1 has the disease

27
Q

What does polygenic traits mean?

A

multiple genes acting together

28
Q

What is the abnormal multiple of 23 chromosomes?

A

polyploidy

29
Q

Where are ribosomes synthesized?

A

nucleolus

30
Q

If free radicals are not removed, what three things occur?

A

lipid peroxidation, protein modification, DNA damage

31
Q

What are the two ways to repair DNA?

A

photolyase for photodimers, excision and splicing

32
Q

What are two intercalating agents?

A

proflavin and acridine orange

33
Q

When does nondisjunction occur?

A

during meiosis

34
Q

What is poor muscle tone?

A

hypotonia

35
Q

What are some characteristics of down syndrome?

A

intellectual disability, hypotonia, short stature, risk of alzheimers

36
Q

What is the chromosomal state of Turner’s syndrome in females?

A

only one X chromosome

37
Q

What letters coordinate with the long and short part of a chromosome?

A

long = q / short = p

38
Q

What is inbreeding in families?

A

consanguinity

39
Q

Are there carriers for dominant traits?

A

no

40
Q

Is achondroplasia a dominant or recessive disease?

A

autosomal dominant

41
Q

What is the most common autosomal recessive disease in white children?

A

cystic fibrosis (on chromosome 7)

42
Q

What disease is represented by expressivity?

A

neurofibromatosis (chromosome 17, either multiple small or large plexiform)

43
Q

What disease is represented by penetrance?

A

retinoblastoma (incomplete 90% of those with genotype)

ALTERED PHYS mid1 (5 decks)

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