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Pathophysiology I > Genes and Inheritance > Flashcards

Genes and Inheritance Flashcards

1
Q

DNA and RNA function

A

store and process molecular information

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2
Q

what does DNA determine?

A

inherited characteristics

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3
Q

what does DNA direct?

A

protein synthesis

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4
Q

what does DNA control?

A

enzyme production

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5
Q

what does DNA dictate?

A

metabolism

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6
Q

what does RNA control?

A

intermediate steps in protein synthesis

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7
Q

what are nucleotides?

A

building blocks of nucleic acids

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8
Q

three parts of nucleotides

A

5 carbon sugar
phosphoric acid
nitrogenous base

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9
Q

what sugar is in DNA?

A

deoxyribose

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10
Q

what sugar is in RNA?

A

ribose

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11
Q

what are the purines?

A

adenine

guanine

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12
Q

what are the pyrimidines?

A

thymine (DNA)
uracil (RNA)
cytosine

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13
Q

what base is replaced in RNA ?

A

DNA has thymine and is replaced by uracil in RNA

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14
Q

what structure is DNA?

A

double stranded

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15
Q

what bases pair in DNA?

A

A-T

C-G

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16
Q

what types of strands does DNA have?

A

coding and template strands

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17
Q

where is DNA present?

A

nucleus and mitochondria

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18
Q

arrangement of DNA in nucleus

A

chromatin

chromosomes

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19
Q

arrangement of DNA in chromatin

A

loosely coiled

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20
Q

arrangement of DNA in chromosomes

A

tightly coiled

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21
Q

what is DNA complexed with?

A

proteins (histones)

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22
Q

how many chromosomes are there in a cell?

A

46 (23 pairs)

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23
Q

DNA arrangement in mitochondria

A

rings

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24
Q

what are genes?

A

segments of DNA that provide instruction for protein synthesis

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25
Q

what is the genome?

A

entire complement of cellular DNA

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26
Q

where does mitochondrial DNA come from?

A

maternally inherited

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27
Q

specific structure of mitochondrial DNA

A

double-stranded rings

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28
Q

how many genes are in mitochondrial DNA?

A

37

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29
Q

how many mitochondria can diseases linked to mDNA affect?

A

variable number

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30
Q

what types of diseases are mDNA diseases?

A

progressive

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31
Q

what do mDNA diseases commonly involve?

A

neuromuscular transmission

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32
Q

examples of mDNA diseases

A

Kearns-Sayre disease

Myoclonus epilepsy

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33
Q

what does RNA handle?

A

aspects of protein synthesis

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34
Q

3 forms of RNA

A

messenger RNA mRNA
ribosomal RNA rRNA
transfer RNA tRNA

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35
Q

what does mRNA do?

A

carries genetic information from nucleus to cytoplasm

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36
Q

how is information transmitted on mRNA?

A

as codons

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37
Q

when is mRNA formed?

A

during transcription of a gene

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38
Q

what does rRNA do?

A

makes up ribosomes

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39
Q

what does tRNA do?

A

delivers amino acids to ribosomes during protein synthesis

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40
Q

how does tRNA have specificity?

A

anticodons

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41
Q

what are triplets?

A

three base sequences of coding strand

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42
Q

what do triplets specify?

A

amino acid sequence of proteins

start and stop of transcription

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43
Q

characteristic of triplets

A

universal across nature

redundant

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44
Q

what does redundancy of triplets allow?

A

changes (mutations)

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45
Q

where is DNA during transcription?

A

trapped in nucleus

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46
Q

where does protein synthesis occur?

A

cytoplasm

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47
Q

what is the intermediary in transcription?

A

mRNA

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48
Q

what is synthesis of mRNA complementary to?

A

base sequence of a gene

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49
Q

what does synthesis of mRNA require?

A

separation of strands

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50
Q

what binds to promotor region?

A

RNA polymerase

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51
Q

what happens after RNA polymerase binds to promoter strand?

A

RNA polymerase “reads” coding strand

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52
Q

transcription-what do three base sequences become?

A

codons

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53
Q

what happens after mRNA is synthesized?

A

undergoes processing

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54
Q

what strand gets transcribed?

A

Only one strand gets transcribed (coding strand)

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55
Q

transcription-what are exons?

A

coding sequences

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56
Q

transcription-what are introns?

A

intervening non-coding sequences

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57
Q

what happens to introns and exons?

A

introns are removed and exons are spliced

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58
Q

what happens if introns and exons are rearranged?

A

different proteins are synthesized

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59
Q

where does processed mRNA go?

A

cytoplasm

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60
Q

what “reads” mRNA?

A

ribosomes

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61
Q

amount of tRNAs

A

tRNAs exist for all 20 amino acids

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62
Q

tRNA anticodons

A

specific and complementary to codons of mRNA

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63
Q

what does tRNA do?

A

deliver amino acids to ribosomes

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64
Q

what links amino acids together?

A

ribosomes

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65
Q

how is the amino acid sequence determined?

A

mRNA codons

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66
Q

what post-translational modification do proteins undergo?

A

folding
addition of lipids or carbohydrates
linkage to other proteins

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67
Q

location and product of transcription of DNA

A

nucleus

produces complementary mRNA

68
Q

location(s) and product of translation of mRNA

A

cytoplasm
ribosomes
produces amino acid chain with specific sequence

69
Q

product of post-translational modification

A

mature/functional protein

70
Q

are genomes different between cells?

A

no, all nucleated cells have same genome

71
Q

requirements of different cells

A

different proteins for functionality and different proteins for separate conditions

72
Q

how can rates of transcription be regulated?

A

transcription factors

inducers, repressors, operons

73
Q

inducers

A

regulates gene expression by disabling repressors

74
Q

repressors

A

inhibits the expression of one or more genes by binding to the operator or associated silencer

75
Q

operon

A

functioning unit of DNA containing a cluster of genes under the control of a single promoter

76
Q

promoter

A

contains specific DNA sequences such as response elements that provide a secure initial binding site for RNA polymerase

77
Q

what is required for cell division?

A

DNA replication

78
Q

what is required for DNA replication?

A

both DNA strands

79
Q

what does each DNA strand serve as in DNA replication?

A

template for new complementary starnd

80
Q

function of semiconservative replication

A

1 strand of “parent” DNA present in each “daughter” double strand

81
Q

what does DNA polymerase do?

A

forms complimentary strands based on sequence of parent strands

82
Q

what does DNA replication result in?

A

diploid cell

83
Q

diploid cell

A

twice normal amount of DNA

84
Q

examples of DNA replication errors

A

base addition/deletion
base change
mutations

85
Q

where do DNA replication errors usually occur?

A

rapidly dividing cells

86
Q

what can DNA replication errors result in?

A

altered proteins

87
Q

what recognizes/repairs damage in DNA replication?

A

endonucleases

88
Q

what else can cause DNA mutations?

A

radiation
chemicals
environment

89
Q

what are DNA mutations important in?

A

carcinogenesis

90
Q

what are chromosomes?

A

tightly coiled nuclear DNA

91
Q

when are chromosomes visible?

A

only during cell division

92
Q

how many pairs of chromosomes do somatic cells have?

93
Q

breakdown of chromosomal pairs

A

22 autosomes

1 sex chromosomes (XX or XY)

94
Q

what are autosomal pairs?

A

homologous-genes affect same traits

95
Q

types of genes in sex chromosomes

A

genes affect different traits

96
Q

what does the presence of Y chromosome determine?

A

male pheontype

97
Q

what type of cell is a sex cell?

A

haploid (half normal number)

98
Q

what is lyonization?

A

random inactivation of all but one X chromosome in a cell

-maternal or paternal X

99
Q

when does lyonization occur?

A

early in embryogenesis

100
Q

what is an inactive X called?

A

barr body

same X active in all cell’s progeny

101
Q

what is responsible for mosaic pattern in calico cats?

A

lyonization

102
Q

example of “unlucky” lyonization

A

female color-blindness

103
Q

phases of cell cycle

A

2 “gap” phases with intervening “S” phase

104
Q

what happens during S phase of cell cycle?

A

DNA replication

105
Q

G0 phase

A

non-dividing/resting cells

106
Q

what does mitosis do?

A

equally divides DNA

107
Q

cytokinesis

A

equally divides cytoplasm and organelles

108
Q

what cells undergo mitosis?

A

somatic cells

-occurs in epithelium, hyperplasia, regeneration

109
Q

4 phases of mitosis

A

prophase
metaphase
anaphase
telophase

110
Q

what is mitosis coordinated with?

A

cytokinesis

111
Q

what does mitosis result in?

A

genetically identical daughter cells

112
Q

what is meiosis?

A

double division of replicated DNA

113
Q

what does meiosis occur in?

A

only sex- (germ) cell precursors

114
Q

what does meiosis result in?

A

haploid cells

germ cells, sex cells, gametes, etc.

115
Q

what does meiosis involve?

A

“crossing over” of portions of replicated chromosomes in meiosis

116
Q

what does crossing over result in?

A

genetic variability

117
Q

how many haploid cells are produced for each male precursor?

118
Q

how many haploid cells are produced for each female precursor?

A

1 haploid cell

3 (or less) polar bodies

119
Q

what causes genetic variation?

A
  • random distribution of maternal and paternal chromosomes to gametes
  • crossing over of portions of chromosomes between replicated pairs
  • translocations between nonhomologous chromosomes
  • basics of evolution
120
Q

what can genetic variation result in?

A

nonviability

121
Q

gene

A

functional segment of chromosome, directs protein synthesis

122
Q

locus

A

gene’s position on a chromosome

123
Q

p arm chromosome

A

short arm i.e. 3p22

124
Q

q arm chromosome

A

long arm i.e. 3q21

125
Q

allele

A

alternate forms of gene at same locus

126
Q

homozygous

A

both chromosomes of a pair carry same allele

127
Q

heterozygous

A

chromosomes of a pair carry different alleles

128
Q

genotype

A

chromosomes and genes

129
Q

phenotype

A

characteristics resulting from genotype and interaction with environment

130
Q

expression

A

degree to which a gene manifests in phenotype

131
Q

how can expression vary?

A

mild to severe

132
Q

penetrance

A

ability of a gene to express its phenotype

133
Q

how can penetrance vary?

134
Q

simple inheritance

A

phenotype determined by interaction between single pair of alleles

135
Q

what does simple inheritance follow?

A

Mendelian rules of inheritance

136
Q

strict dominance

A

dominant allele is always expresses in phenotype

137
Q

when will recessive allele be expressed in strict dominance?

A

recessive allele will be expressed only if same allele is present on both chromosomes

138
Q

codominance

A

heterozygous individual exhibits both phenotypes

139
Q

incomplete dominance

A

heterozygous alleles produce intermediate phenotype

140
Q

what can be used to predict phenotype of offspring?

A

Punnett squares

141
Q

what is polygenic inheritance?

A

interactions among several genes responsible for producing phenotype
somewhat predictable

142
Q

do Punnett squares work with polygenic inheritance?

143
Q

mechanisms of polygenic inheritance-multiple alleles

A

more than one allele affects same trait

144
Q

mechanisms of polygenic inheritance-suppression

A

one gene suppresses another, 2nd gene doesn’t affect phenotype

145
Q

mechanisms of polygenic inheritance-complementary

A

two genes mutually dependent on each other

146
Q

multifactorial inheritance

A

polygenic inheritance with influences from environment as well

147
Q

sex-linked inheritance also called

A

“x-linked”

148
Q

what does x chromosome carry?

A

many genes related to somatic structure

149
Q

what does y chromosome carry?

A

male-determining genes

150
Q

chromosomes of females

151
Q

chromosomes of males

152
Q

what contributes x or y to fertilization?

A

spermatozoa

153
Q

how are sex-linked disorders inherited?

A

recessive fashion

154
Q

function of females in sex-linked inheritance

A

can be carriers and pass to male offspring

155
Q

aberrations

A

chromosome abnormalities

156
Q

examples of aberrations

A

extra or absent chromosomes

chromosomal breaks

157
Q

what do aberrations usually result in?

A

abortion or stillbirth

158
Q

mutations

A

changes in nucleotide sequence of a gene

159
Q

types of mutations

A

can be spontaneous or induced

160
Q

examples of mutations

A

substitution, deletion or insertion (or combinations) of bases

161
Q

human genome project

A

world’s larges collaborative project

1990-2003

162
Q

how many base pairs sequenced in human genome project?

A

3.2 billion

163
Q

how many protein-coding genes are there?

A

20,000-25,000

doc was shocked

164
Q

how much of genome is shared across individuals?

165
Q

how much of genome accounts for human diversity?

166
Q

how many different single-gene disorders have been described?

Pathophysiology I (10 decks)

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