bio module 2 Flashcards

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1
Q

the process of producing offspring that receive genetic material from two parents; it occurs by the production of gametes followed by fertilization to produce a zygote.

A

sexual reproduction

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2
Q

what are sperm and eggs?

A

gametes

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3
Q

how are gametes produced?

A

meiotic cell divsion

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4
Q

a form of cell division that included only one round of DNA replication but two rounds of nuclear division

A

meiotic cell division

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5
Q

a cross in which female and male parents are interchanged

A

reciprocal cross

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6
Q

homologous chromosomes fail to separate: All resulting gametes have an extra or missing chromosome

A

first-division non disjunction

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7
Q

Sister chromatids fail to separate: gametes will have an extra chromosome, missing chromosome or proper number of chromosomes

A

second-division non disjunction

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8
Q

failure of a pair of chromosomes to separate normally during anaphase of cell division

A

nondisjunction

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9
Q

interbreeding between two different varieties or species of an organism

A

hybridization

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10
Q

reductional division, the number of chromosomes are halved from 2n to n

A

Meiosis 1

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11
Q

equational division in which the number of chromosomes is unchanges

A

Meiosis 2

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12
Q

the aligned and precise paring of homologous chromosomes in prophase 1 of meiosis

A

synapsis

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13
Q

A four stranded chromosomal structure characterized by a pair of homologous chromosomes, each consisting of two chromatids, paired side by side held together by one of more chiasmata during prophase 1 of meiosis

A

bivalent

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14
Q

result from the replication of homologous chromosomes (one is maternal one is paternal), they have the same set of genes in the same order, but are NOT genetically identical

A

nonsister chromatids

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15
Q

result from the replication of a single chromosome so they are genetically identical

A

sister chromatids

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16
Q

what is the result of meiotic cell division

A

daughter cells with half the number of chromosomes as the parents

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17
Q

describes an allele or trait that is only expressed by homozygotes, two BLANK alleles are needed to express the phenotype

A

recessive

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18
Q

describes an allele or trait that is expressed in heterozygotes; only one BLANK allele is needed to express the phenotype

A

dominant

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19
Q

the interaction of genes affecting the same trait and it can modify the 9:3:3:1 ratio of phenotypes

A

epistasis

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20
Q

interaction between genes that modifies the phenotypic expression of genotypes

A

epistasis

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21
Q

a diagram of family history that summarizes the record of the ancestor- descendant relationships among individuals

A

pedigree

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22
Q

what is brachydactylyl

A

a rare dominant trait in which the middle long bone in fingers fail to grow, fingers remain short, this was the first demonstration of dominant mendelian inheritance in humans

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23
Q

what is albinism

A

a rare recessive trait in which the amount of melanin pigment in the skin, hair and eyes is reduced

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24
Q

mutation in the gene OCA2 leads to

A

albinism (since this gene encodes a membrane transporter protein thought to be important in the transport of the amino acid tyrosine which is used in the synthesis of the melanin pigement)

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25
Q

the phenomenon in which some individuals with a genotype corresponding to a trait do not show the phenotype, either because of environmental effects of because or interactions with other genes

A

incomplete penetrance

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26
Q

portion of individuals with a particular genotype that shows the expected phenotype

A

pentrance

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27
Q

what happens if the penetrance is less than 100%

A

the trait shows reduced or incomplete penetrance

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28
Q

what is the difference between incomplete penetrance and variable expressivity

A

incomplete penetrance trait is sometimes expressed and sometimes not

variable expressivity trait is always expressed

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29
Q

the phenomenon in which a particular phenotype is expressed with a degree of severity in different individuals

A

variable expressivity

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30
Q

what is the difference between a haploid and a diploid

A

a haploid is made up of one copy of a chromosome (n)
a diploid is made up of two copies of each chromosome (2n)

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31
Q

fusion of haploid cells to produce a diploid cell

A

fertilization

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32
Q

interpreting pedigrees can be hard due to:

A

1) incomplete penetrance 2) variable expressivity

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33
Q

genes in the X chromosome

A

X-linked genes or sex linked genes

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34
Q

the most common allele, genotype or phenotype present in a population; non mutant

A

wild type

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35
Q

a pattern in which an X chromosome present in a male in one generation is transmitted to a female in the next generation, and in the next generation after that can be transmitted back to make

A

crisscross inheritance

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36
Q

what is hemophilia

A

results from a recessive mutation in a gene encoding a protein necessary for blood clotting

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37
Q

organelles in the offspring cells derive from those in the mother

A

maternal inheritance

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38
Q

what are the types of diversity of inheritance of cytoplasmic organelles?

A

maternal inheritance, paternal inheritance, biparental inheritance

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39
Q

organelles in the offpsring cells derive from those in the father

A

paternal inheritance

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40
Q

organelles in the offspring cells derive from those in both parents

A

biparental inheritance

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41
Q

describes genes that are sufficiently close together in the same chromosome that they do not assort independently

A

linked genes

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42
Q

progeny in which alleles are present in the same combination as that present in a parent

A

nonrecombinants

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43
Q

an offspring with a different combination of alleles from that of either parent, resulting from one or more crossovers in prophase 1 or meiosis

A

recombinant

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44
Q

a diagram showing the relative positions of genes along a chromosome

A

genetic mapping

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45
Q

a unit of distance in a genetic map equal to the distance between genes resulting in 1% recombination

A

map unit

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46
Q

what is SRY

A

sex determining region in the Y chromosome

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47
Q

what happens if SRY is present

A

male structures complete their development and females structures degenerate

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48
Q

what happens is SRY is absent

A

male embryonic structures degenerate and female structures complete their development

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49
Q

a gene that is present in the region of the Y chromosome that shares no homology with the X chromosome

A

Y linked genes

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50
Q

the particular combination of alleles present in any defined region of a single chromosome

A

haplotype/haploid genotype

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51
Q

the principle molecule of biological heredity, a polymer of nucleotides

A

DNA!

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52
Q

what carries our most essential activities in a cell?

A

proteins

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53
Q

what does virulent mean?

A

causes illness or death

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53
Q

what is at the 3’ end

A

a free 3’ hydroxyl

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53
Q

what are the three parts of a nucleotide?

A
  1. 5 carbon sugar
  2. base
  3. Phosphate group (1 or more)
53
Q

what is at the 5’ end

A

a free 5’ phosphate

53
Q

A and T are held together by

A

2 hydrogen bonds

53
Q

what are two ways the double helix can be described?

A
  1. a ribbon model with the backbones as ribbon
  2. a space filling molecules in which the atoms are shown as solid spheres
53
Q

what makes DNA and RNA different?

A

DNA does not have an oxygen on the 2’ carbon on the sugar
RNA does have an oxygen on the 2’ carbon on the sugar

53
Q

the larger of two uneven grooves on the outside of a DNA duplex

A

major groove

53
Q

G and C are held together by

A

3 hydrogen bonds

53
Q

the smaller of two unequal grooves on the outside of a DNA duplex

A

minor groove

53
Q

what are three structural features of DNA

A
  1. DNA is made up on subunits called bases
  2. DNA is a linear polymer of nucleotides with sugar subunits linked by phosphodiester bonds
  3. Cellular DNA is a double helix with two strands that are antiparallel to each other
53
Q

what are pyrimidines

A

T, G, U single ringed structures

54
Q

what are purines

A

A and G, double ring structure

54
Q

the production of a functional gene product such as a protein

A

gene expression

55
Q

transcription and translation are two products of…

A

gene expression

56
Q

RNA to DNA: two examples are

A

AIDS and HIV

57
Q

RNA to RNA: two examples are

A

SARS or COVID

58
Q

the synthesis of RNA from a DNA template

A

transcription

59
Q

synthesis of a polypeptide chain corresponding to the coding sequence present in a molecule of messenger RNA

A

translation

60
Q

where does transcription and translation happen in prokaryotes?

A

both in cytoplasm

61
Q

where does transcription and translation happen in eukaryotes

A

transcription: in nucleus
translation: in cytoplasm

62
Q

which is more stable DNA or RNA? and why

A

DNA is more stable since RNA has hydroxyl group which are reactive and unstable functional groups

63
Q

what are the three steps of transcription and explain

A
  1. initiation: DNA polymerase are other proteins come to the double stranded DNA, DNA strands are separated, transcript of the template strand begins
  2. Elongation: nucleotides are added to the 3’ end of the growing RNA transcript as the RNA polymerase proceeds along the template strand
  3. Termination: RNA polymerase encounters a sequence in the template strand that causes transcription to STOP and RNA transcript is released
64
Q

where RNA polymerase and other proteins bind to DNA, regions of a few hundred base pairs

A

promoters

65
Q

a DNA sequence at which transcription stops and the transcript is released

A

terminator

66
Q

genes that are constantly being expressed

A

housekeeping genes

67
Q

a protein that associates with RNA polymerase that facilitates its binding to specific promoters

A

sigma factor

68
Q

a complex of proteins that interacts with Pol II complex and allows transcription to begin

A

mediator complex

69
Q

a protein that binds to the promoters of a gene whose combined action is necessary for transcription

A

general transcription factor

70
Q

a protein that binds to a sequence in DNA to enable transcription to begin

A

transcriptional activator protein (TAP)

71
Q

a specific DNA sequence located upstream, downstream, or within a gene that is necessary for transcription

A

enhancer

72
Q

so what are the four things we need to initiate transcription in eukaryotes?

A
  1. transcriptional activator proteins
  2. mediator complex
  3. RNA polymerase complex (Pol II)
  4. general transcription factors
73
Q

what can be found within the RNA polymerase complex (Pol II)

A

transcription bubble

74
Q

noncoding RNA found in all ribosomes that aid in translation

A

ribosomal RNA (rRNA)

75
Q

noncoding RNA that carries individual amino acids for use in translation

A

transfer RNA (tRNA)

76
Q

noncoding RNA found in eukaryotes and involved in splicing, polydenylation, and other processes in the nucleus

A

small nuclear RNA (snRNA)

77
Q

small, regulatory RNA molecules that can cleave or destabilize RNA or inhibit its translation

A

microRNA (miRNA)

78
Q

a type of small double-stranded regulatory RNA that becomes part of a complex able to cleave and destroy single-stranded RNA with a complementary seqeunce

A

small interfering RNA (siRNA)

79
Q

a process in which primary transcripts from the same gene are spliced in different ways to yield different mRNAs and therefore different protein products

A

alternative splicing

80
Q

protein coding sequence

A

exons

81
Q

noncoding regions

A

introns

82
Q

what are the five types of noncoding RNA?

A
  1. rRNA
  2. tRNA
  3. snRNA
  4. miRNA
  5. siRNA
83
Q

molecules of mRNA that code for multiple proteins

A

polycistronic mRNA

84
Q

a group of genes with related functions, usually resulting from multiple rounds of duplication and divergence

A

gene family

85
Q

what are the four types of point mutations/nucleotide substitution?

A
  1. single-nucleotide polymorphism
  2. Synonymous/silent mutation
  3. non-synonymous/missence mutation
  4. nonsense mutation
86
Q

what are transposable elements/transpoons

A

a DNA sequence that can replicate and move from one location to another in a DNA molecule (some mutations are due to an insertion of a transposable element)

87
Q

what are the five things in an amino acid?

A
  1. alpha (carbon)
  2. amino group (-NH2)
  3. carboxyl group (-COOH)
  4. hydrogen atom (-H)
  5. R group
88
Q

what are the types of amino acids and explain

A
  1. hydrophobic amino acids: do not interact with water, do not form hydrogen bonds, they have nonpolar R groups
  2. hydrophilic amino acids: form hydrogen bonds, polar R groups, they lose a proton and become positively charged
  3. Special amino acids: effect on protein structure (glycine, proline, cysteine)
89
Q

what is a peptide bond between

A

carboxyl group and amino acid

90
Q

what are amino acids linked together by

A

peptide bonds

91
Q

explain the four protein structures

A

primary protein structures: sequence of amino acids

secondary protein structures: hydrogen bonding of the peptide backbone causes the amino acids to fold into a repeating pattern (there are alpha and beta and both stabilized by hydrogen bonds along the backbone)

tertiary protein structure: three dimensional folding pattern of a protein due to side chain interactions (3 models: ball and stick, ribbon model, space filling model)

quaternary protein structures: protein consisting of more than one amino acid chain, polypeptide subunits may be identical or different (ex. HIV two same polypeptides, hemoglobin to different polypeptides)

92
Q

what are the three parts of translation and explain

A

initiation: initiator AUG codon is recognizes and Met is established as the first amino acid in the polypeptide chain

elongation: amino acids are added to growing chain

termination: amino acids stop getting added to polypeptide chain and is released from ribosome

93
Q

what is an initiation factor

A

a protein that binds to mRNA (helps translation begin)

94
Q

a protein that breaks the high energy bonds of the molecule GTP to provide energy for ribosome movement and elongation of the growing polypeptide chain

A

elongation factor

95
Q

a protein that causes a polypeptide chain to be freed from its ribosome

A

release factor

96
Q

the process by which proteins end up where they need to be in the cell to perform their function

A

protein sorting/targeting

97
Q

an amino acid sequence in a protein that directions the protein to its proper cellular compartment

A

signal sequences

98
Q

a peptide signal sequence that travels proteins to move from the cytoplasm of a cell through nuclear pores into the nucleus

A

nuclear localization signals

99
Q

why do traits differ

A

genetic variation and environment

100
Q

what is our genotype?

A

the genetic makeup of a cell or organisms; the particular combination of alleles present in an individual

101
Q

any genetic difference among individuals that is present in multiple individuals in a population (result of mutation that spread through population)

A

polymorphisms

102
Q

two copies of the same allele in a gene

A

homozygous

103
Q

two different alleles of a gene

A

heterozygous

104
Q

individuals observable characteristics or traits

A

phenotype

105
Q

three broad types of mutations and explain

A
  1. harmful mutations: affect our ability to survive and reproduce
  2. neutral mutation: does not affect survival or reproduction
  3. beneficial mutations: improve the chance of survival and reproduction
106
Q

a genetic site in the genome that is especially mutable

A

hotspot

107
Q

a reproductive cell that produces gametes, mutations are transmitted to the next and future generations

A

germ cell

108
Q

non-productive cell, the most common type of cell, mutations are no transmitted to future generations, they also have the greater rate of mutations

A

somatic cell

109
Q

the analysis of a small quantity of DNA to uniquely identify an individual, also called DNA finger printing

A

DNA typing

110
Q

a region along a DNA molecule in which many identical copies of a short sequence of nucleotides are adjacent to one another

A

tandem repeat

111
Q

process of creating genes from duplicates of old ones

A

duplication and divergence

112
Q

a region of a chromosome that is present twice instead of once

A

duplication

113
Q

a mission region of a gene or chromosome

A

deletion

114
Q

a protein that recruits the components of the transcription complex to the gene, has two binding sites, binds near enhancer

A

regulatory transcription factors

115
Q

a protein that binds to the promoter of a gene whose combined action is necessary for transcription

A

general transcription factors

116
Q

DNA sequences that binds with regulatory transcription factors and repress transcription

A

silencers

117
Q

regulation of gene transcription by means of multiple transcriptional factors acting together

A

combinational control

118
Q

the % of cases in which both members of a par of twins show the trait when it is know that at least one member shows it

A

concordance

119
Q

twins that came from a single fertilized eggs, after several rounds of cell division, they are separated into two distinct but genetically identical embryos

A

monozygotic (MZ), identical twins

120
Q

twins that arise form 2 separate eggs produced by double ovulation, fertilized by 2 sperm

A

dizygotic (DZ), fraternal twins

121
Q

the transfer of info among individuals through learning or imitation

A

cultural transmission

122
Q

with regard to complex traits, the principle that offspring exhibit an average phenotype that is intermediate between their parents and the population

A

regression towards the mean

123
Q

unequal effects of the environment on different genotypes, resulting in different phenotypes

A

genotype by environment

124
Q

a complex trait that is influenced by many genes and the environment and that is measurable along a continuum (ex. height and weight)

A

quantitative traits

125
Q
A