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Pathophysiology > 2. Genes and Genetic Diseases > Flashcards

2. Genes and Genetic Diseases Flashcards

1
Q

insertion or deletion of 1 or more base pairs

A

frameshift mutation

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2
Q

RNA directs synthesis of a polypeptide at a ribosome

A

translation

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3
Q

RNA is synthesized from DNA template and form messenger RNA (mRNA)

A

transcription

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4
Q

silent, missence, and nonsense are all what type of genetic mutation

A

base pair substitution

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5
Q

What is seen in Down syndrome?

A

intellectual disability, distinctive facial features, and increased risk of leukemia

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6
Q

only 1 gene needed for expression; genders equal

A

autosomal dominant

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7
Q

cells w/ compete extra sets of chromosomes

A

polyploidy (usually spontaneous aborted or stillborn)

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8
Q

exchange of material between 2 non-homologous chromosomes

A

reciprocal translocation

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9
Q

mutation -> new codon -> new AA

A

missense mutation

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10
Q

On what chromosomes do Robersonian translocations occur?

A

13, 14, 15, 21, and 22

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11
Q

What AD disease is known for its delayed age of onset (about 40 y/o)?

A

Huntington’s disease

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12
Q

harmful agent that increases risk of chromosomal breakage

A

clastogen (ionizing radiation, viral infection)

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13
Q

long arms of 2 non-homologous chromosomes combine at the centromere to form a single chromosome and the short arms are usually lost

A

Robertsonian translocation

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14
Q

List 3 examples of autosomal dominant disorders

A

Huntington’s disease, Von Willebrand’s disease, and Marfan’s syndrome

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15
Q

genes position along a chromosome

A

locus

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16
Q

Chromosomes and pairs of gametes

A

23 chromosomes as singles (haploid)

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17
Q

Example of expressivity

A

neurofibromatosis

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18
Q

Fragile X Syndrome

A

gap on long arm of X chromosome

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19
Q

certain number of factors/genes must be affected before phenotype is expressed

A

threshold of liability

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20
Q

any agent known to increase frequency of mutation

A

mutagen

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21
Q

Turner Syndrome

A

Monosomy X

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22
Q

What role does the ribosome play in forming a polypeptide?

A

provides an enzyme that catalyzes the formation of covalent peptide bonds between adjacent AA -> growing polypeptide chain

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23
Q

What chromosome is cystic fibrosis linked to?

A

chromosome 7

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24
Q

Cri-du-chat syndrome

A

Chromosome 5 - deletion of short arm

25
Q

What is seen in Klinefelter syndrome?

A

breast development, small testicles, typically sterile and some intellectual impairment

26
Q

Klinefelter Syndrome

A

XXY condition

27
Q

cells w/ a multiple of the normal number of chromosomes

A

euploid cells

28
Q

describe the chromosomes in triploidy and tetraploidy cells

A
  • triploidy = 3 complete sets of chromosomes - tetraploidy = 4 complete sets of chromosomes
29
Q

Patau syndrome

A

trisomy 13

30
Q

Edward’s syndrome

A

trisomy 18

31
Q

aneuploidy is a result of what?

A

nondisjunction - homologous chromosomes or sister chromatids fail to separate during mitosis or meiosis

32
Q

Name 4 types of abnormalities in chromosome structure

A
  • deletion - duplication - inversion - translocation
33
Q

List 3 examples of AR diseases

A

cystic fibrosis, sickle cell anemia, and albinism

34
Q

range of phenotypes that vary between patients and specific genotype

A

expressivity

35
Q

what is the recurrence of autosomal dominant

A

50%

36
Q

traits in which variations are caused by combined effect of multiple genes (polygenic)

A

multifactorial inhertence

37
Q

different forms of a gene

A

alleles

38
Q

List 3 examples of X-linked inheritance

A

color blindness, Duchenne muscular dystrophy, and hemophilia A

39
Q

RNA sequences that are spliced out are called ___ and sequences that become mRNA to code for proteins are called ___

A

introns; exons

40
Q

Newborns w/ trisomy of what chromosomes can survive?

A

trisomy 13, 18, 21, or X

41
Q

Down Syndrome

A

Trisomy 21

42
Q

mutations located on the X chromosome; females usually carriers; males affected

A

X-linked Inheritance

43
Q

name 2 types of aneuploidy cells and which type is worse

A

monosomy and trisomy; monosomy is worse due to the lack of genetic material

44
Q

What molecule includes the site where the AA attaches during translation?

A

the tRNA

45
Q

What is the recurrence of autosomal recessive?

A

50% carrier, 25% normal; 25% affected

46
Q

Chromosomes and pairs of somatic cells

A

46 chromosomes in 23 pairs (diploid)

47
Q

a cell that does not contain a multiple of 23 chromosomes (missing or additional individual chromosomes)

A

aneuploidy

48
Q

What is expressivity influenced by?

A

environment, genes at other loci and mutations at different points on loci

49
Q

What is a common example of incomplete penetrance

A

retinoblastoma - about 90% who carry the gene will get the disease (90% penetrance)

50
Q

What is seen in cri-du-chat syndrome?

A

low birth weight, severe intellectual disability, microcephaly, heart defects, and characteristic high pitched cry

51
Q

% of individuals w/ a genotype who also exhibit the expected phenotype

A

penetrance

52
Q

a locus that has 2 or more alleles that each occur with an appreciable frequency in a population

A

polymorphic

53
Q

mutation -> new codon -> same AA

A

silent mutation

54
Q

mutation -> new codon -> stop codon

A

nonsense mutation

55
Q

only an extra portion of a chromosome is present in each cell

A

partial trisomy

56
Q

What is seen in Turner syndrome?

A

short stature, neck webbing, spaced nipples, usually sterile, but no intellectual disability

57
Q

individuals w/ disease-causing genotype but not the phenotype

A

incomplete penetrance

58
Q

What is seen in Fragile X syndrome?

A

more common in males; causes intellectual disability (2nd most common under Down syndrome)

59
Q

2 copies of the genes needed to influence the phenotype; genders equal

A

autosomal recessive

Pathophysiology (20 decks)

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