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Pathophysiology > Chapter 2 VOCAB > Flashcards

Chapter 2 VOCAB Flashcards

1
Q

DNA nitrogen pyrimidines

A

Cytosine and Thymine

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2
Q

DNA nitrogen purines

A

Adenine and Guanine

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3
Q

DNA is in the shape of _________

A

Double-helix

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4
Q

Proteins are composed of one or more ______

A

polypeptides

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5
Q

Polypeptides are composed of

A

Amino Acids

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6
Q

A group of three nitrogen bases are called a _____

A

codons

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7
Q

Type of bonds between the pairing bases

A

Hydrogen bonding

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8
Q

Complement base pairing are ___ and ___, and ___ and ____

A

Adenine and Thymine

Guanine and Cytosine

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9
Q

The fragmented single strand of DNA is called the ___

A

template

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10
Q

The enzyme responsible for adding the correct nucleotide to the single strand of DNA during DNA replication

A

DNA polymerase

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11
Q

A inherited alteration of genetic material

A

mutation

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12
Q

The mutation where one base pair replaces another

A

base pair substitution

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13
Q

Mutations that have no consequence are called

A

silent mutations

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14
Q

base pair substitution which produces a change in the amino acid

A

missense mutation

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15
Q

base pair substitution which produces a stop codon

A

nonsense

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16
Q

The three stop codons are

A

UAA, UAG, UGA

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17
Q

a mutation that inserts or deletes two or more base pairs of the DNA

A

Frameshift mutation

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18
Q

Outside agents that cause mutations

A

mutagens

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19
Q

mutations with the absence of mutagens are called

A

spontaneous mutations

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20
Q

DNA sequences that are common to have mutations are called

A

mutation hot spots

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21
Q

DNA is short for

A

deoxyribonucleic acid

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22
Q

RNA is short for

A

ribonucleic acid

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23
Q

When RNA is synthesized from DNA

A

transcription

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24
Q

When amino acids are created form RNA

A

translation

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25
Q

Type of RNA that is synthesized from DNA

A

messenger RNA (mRNA)

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26
Q

What enzyme separates DNA during transcription

A

RNA polymerase

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27
Q

RNA polymerase binds on the DNA at the _____ site

A

promoter site

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28
Q

RNA polymerase continues to separates DNA until it reaches a ____

A

stop codon or

termination sequence

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29
Q

The sequences that are removed from mRNA

A

introns

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30
Q

The sequences that remain on mRNA

A

exons

31
Q

The RNA that carries the amino acid and 3 nucleotides during translation

A

transfer RNA (tRNA)

32
Q

The places where protein synthesis happens

A

ribosomes

33
Q

Two types of human cells are

A

Gametes

somatic cells

34
Q

Gametes consist of

A

sperm and eggs

35
Q

Somatic cells consist of

A

all other human cells

36
Q

somatic cells are called ______ consisting or 46 chromosomes in 23 pairs

A

diploid cells

37
Q

somatic cells are reproduced through

A

mitosis

38
Q

gamete cells are called _____ because they only contain one chromosome pair (23 chromosomes)

A

haploid cells

39
Q

haploid cells are formed from diploid cells through

A

meiosis

40
Q

when two chromosomes are the virtually identical they are called

A

homologous

41
Q

the 22 homologous pairs of chromosomes are called

A

autosomes

42
Q

an electronic view of chromosomes lined up in pairs is

A

karyotype

43
Q

cells with normal numbers of chromosomes are called

A

euploid cells

44
Q

an euploid cell that has more then the desired number of chromosomes is called

A

ployploid

45
Q

A zygote that has three copies of EACH chromosome is called

A

triploid

46
Q

when a CELL does not contain a multiple of 23 chromosomes it is called

A

aneuploidy

47
Q

when a CELL has three copies of one chromosome it is called

A

trisomy

48
Q

when sister chromosomes fail to separate and one cell receives both copies it is called

A

nondisjunction

49
Q

when an extra portion of one chromosome is present in the cell

A

partial trisomy

50
Q

trisomy of the 21st chromosome

A

down syndrome

51
Q

only having one copy of a chromosome

A

monosomy

52
Q

Monosomy of the X chromosome is called

A

Turner syndrome

53
Q

Indivduals with two X and one Y chromosome (XXY) is called

A

Klinefelter Syndrome

54
Q

Broken chromosomes and/or broken DNA is called

A

deletions

55
Q

a repeat of a section of DNA

A

duplication

less harmful than deletion

56
Q

when two breaks occur on a chromosome but the section is put back in, in reverse

A

inversion

57
Q

interchanging genetic material between two non homologous chromosomes

A 
translocation 
reciprocal translocation (if it happens on two different chromosomes)
58
Q

When the long arm of two nonhomologous chromosomes fuse at centromeres, creating a single chromosome

A

robertsonian translocation

59
Q

the appearance of an individual

Gene expression

A

phenotype

60
Q

composition of genes at a given locus

Genes make up

A

genotype

61
Q

Two different alleles (dominate and recessive)

A

Heterozygous

62
Q

two of the same alleles (dominate OR recessive)

A

Homozygote

63
Q

when a heterozygote has the allele but it is not expressed

A

carrier

64
Q

a chart that expresses dominate and recessive genes

A

Punnett square

65
Q

a chart that shows disease in a family blood line

A

pedigree

66
Q

the probability that a person will develop a genetic disease

A

recurrence risk

67
Q

showing signs and symptoms of an autosomal dominate disorder with no family history is most likely

A

germline mosaicism

68
Q

the tumor suppressor gene is found on _____ chromosome

A

long arm of chromosome 13

69
Q

When a nitrogen group is replaced with a methyl group

A

DNA methylation

70
Q

mating of two related people

A

consanguinity

71
Q

For female sex hormones X, parts are turned off

A

X inactivation

72
Q

the theory that X chromosomes are turned off

A

dosage compensation

73
Q

Cells that of chromosomes that are turned off (only in females)

A

barr bodies

74
Q

When homologous chromosomes switch entire arms

A

crossover

Pathophysiology (8 decks)

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