Final Flashcards

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1
Q

Mendel’s law of independent assortment

A

Two different genes will randomly assort their alleles during the formation of haploid cells

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2
Q

Mendel’s Law of Segregation

A

The two copies of a gene segregate (or separate) from each other during transmission from parent to offspring

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3
Q

Fundamental theory of heredity

A

Inheritance involves the passing of discrete units of inheritance, or genes, from parents to offspring

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4
Q

Dihybrid cross F2 generation ratio

A

9:3:3:1

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5
Q

Monohybrid cross

A

Mendel’s first experiments involved crossing two variants of the same characteristic

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6
Q

Asexual reproduction

A

Generates offspring that are genetically identical to a single parent

  • cell division
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7
Q

Sexual reproduction

A

Two parents contribute genetic information to produce an unique offspring

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8
Q

A ___ is an organized representation of the chromosomes within a cell.

A

Karyotype

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9
Q

Diploid -

A

Have two “sets” of chromosomes

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10
Q

Members of a pair of chromosomes are called ___.

A

Homologs

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11
Q

Homologous pair of chromosomes

A
  • nearly identical in size
  • have the same bending pattern and centromere location
  • have the same genes
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12
Q

What does asexual reproduction?

A

Bacteria
Amoeba
Yeast

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13
Q

Sister chromatid

A

Two copies of a replicated chromosome joined at the centromere to form a pair

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14
Q

In actively dividing cells, G1, S, and G2 are collectively known as ___.

A

Interphase

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15
Q

Interphase

A

G1 - cell prepares to divide
S - cell has twice as many chromatids as there are chromosomes
G2 - cell accumulates the materials that are necessary for nuclear and cell division

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16
Q

Mitosis

A
  • prophase (nuclear envelope dissociates into small vesicles, the chromatids condense into more compact structures, centrosomes begin to separate, mitotic spindle apparatus is formed)
  • prometaphase (centrosomes move to opposite ends of the cell forming spindle poles, spindle fibers interact with the sister chromatids, kinetochore microtubules grow from the two poles, two kinetechores on a pair of sister chromatids are attached to kinetochore MTs on opposite poles)
  • metaphase (pairs of sister chromatids align themselves along a plane called the metaphase plate, each pair of chromatids is attached to both poles by kinetochore microtubules)
  • anaphase (the connection holding the sister chromatids together is broken, each chromatid, now an individual chromosome, is linked to only one pole, kinetochore MTs shorten, polar MTs lengthen)
  • telophase (cytokinesis, chromosomes reach there respective poles and decondense, the nuclear membrane reforms to form two separate nuclei, quickly followed by cytokinesis)
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17
Q

What does sexual reproduction?

A

Eukaryotic organisms

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18
Q

Haploid -

A

They contain a single set of chromosomes

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19
Q

Meiosis I

A

Prophase I (the chromosomes condense, the nuclear envelope breaks down, crossing-over occurs)
- leptotene (replicated chromosomes condense)
- zygotene (synapsis begins)
- pachytene (a bivalent has formed and crossing over has offered)
- diplotene (synaptonemal complex dissociates)
- diakinesis (nuclear membrane breaking apart, end of prophase I)
Prometaphase I
Metaphase I (pairs of homologous chromosomes move to the equator of the cell)
Anaphase I (homologous chromosomes move to opposite poles of the cell)
Telophase I (chromosomes gather at the poles of the cells, the cytoplasm divides)
Prophase II (a new spindle forms around the chromosomes)
Metaphase II (chromosomes line up at the equator)
Anaphase II (centromeres divide, chromatids move to the opposite poles of the cells)
Telophase II (a nuclear envelope forms around each set of chromosomes, the cytoplasm divides)

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20
Q

Penetrance -

A

Whether gene penetrates enough in order to express or not

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21
Q

Expressivity -

A

The degree to which the trait is expressed

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22
Q

X-linked -

A

This pattern involves the inheritance of genes that are located on the X chromosome

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23
Q

Sex-influenced inheritance

A

This pattern refers to the effect of sex on the phenotype of the individual

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24
Q

Sex-limited inheritance

A

This refers to traits that occur in only one of the two sexes

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25
Q

Lethal alleles

A

An allele that has the potential of causing the death of an organism

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26
Q

Incomplete dominance -

A

Occurs when the heterozygote has a phenotype that is intermediate between either corresponding homozygote

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27
Q

Overdominance

A

This pattern occurs when the heterozygote has a trait that is more beneficial than either homozygote

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28
Q

Codominance

A

Occurs when the heterozygote expresses both alleles simultaneously without forming an intermediate phenotype

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29
Q

Mitosis vs meiosis

A
  • mitosis produces two diploid daughter cells
  • meiosis produces four haploid daughter cells
  • mitosis produces daughter cells that are genetically identical
  • meiosis produces daughter cells that are not genetically identical
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30
Q

Evaluating the validity of a hypothesis

A

Scientific method

Chi square test

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31
Q

How are alleles dominant?

A
  • gain-of-function - protein encoded by the mutant gene is changed so it gains a new or abnormal function
  • dominant-negative - protein encoded by the mutant gene acts antagonistically to the normal protein
  • haplosufficiency - loss-of-function, heterozygote does not make enough product to give the wild type phenotype
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32
Q

ABO blood type inheritance

A
  • Type O people can only accept type O
  • type O can donate to anyone
  • mother A type A (IaIa Iai)
    Not the father AB IaIb
    Child O (need a little i from both parents)
    Father could be A, B, O(ii)
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33
Q

Epitasis -

A

When the alleles of one gene mask the phenotypic effects of the alleles of another

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34
Q

Extranuclear inheritance

A

Involves genes in organelles other than the nucleus: mitochondria and chloroplasts

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35
Q

Maternal effect

A

An inheritance pattern for certain nuclear genes in which the genotype of the mother directly determines the phenotype of her offspring

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36
Q

How to identify center gene gene in 3-point cross

A

Map distance

37
Q

Inversion -

A

A change in the direction of part of the genetic material along a single chromosome

Inversion loop must form

38
Q

Robertsonian translocation

A

Familial Down syndrome

Most common chromosomal rearrangement in humans

39
Q

Euploidy -

A

Variation in the number of complete sets of chromosomes

Occur occasionally in animals and frequently in plants

40
Q

Aneuploidy -

A

Variation in the number of particular chromosomes within a set

Abnormal condition

41
Q

Endopolyploidy -

A

Diploid animals sometimes produce tissues that are polyploid

42
Q

Autopolyploidy -

A

Complete nondisjunction can produce an individual with one or more sets of chromosomes

43
Q

Alloploidy -

A

A much more common mechanism for changes in the number of sets of chromosomes

44
Q

Hardy-Weinberg

Given allele, find frequency of heterozygotes

A

Frequency of heterozygous carriers is 2pq

45
Q

Phases of cell cycle

A

G1 (cell growth)
S (DNA synthesis)
G2 (cell growth)

46
Q

Monosomy -

A

Having a diploid chromosome complement in which one chromosome lacks its homologous partner

47
Q

Twin spots

A

Consist of two genetically different clones of neighboring cells in a background of normal cells

48
Q

Photolyase

A

DNA repair enzymes that repair damage caused by exposure to ultraviolet light

49
Q

Telomere

A

Essential part of human cells that affect how our cells age

Caps at the end of each strand of DNA that protect our chromosomes

50
Q

Rho protein

A

Binds to the transcription terminator pause site, an exposed region of single stranded RNA after the open reading frame at C-rich/G-poor sequences that lack the obvious secondary structure

Transcription protein in prokaryotes

51
Q

Nucleoside

A

A compound commonly found in DNA or RNA, consisting of a purine or pyrimidine base linked to a sugar

52
Q

Chromosomes of ___ include how many…

A

Thousands

53
Q

Diameter of a double helix

A

2nm

54
Q

Function of DNA polymerase

A

To make DNA from nucleotides, the building blocks of DNA

55
Q

Function of RNA polymerase

A

Enzyme that produces primary transcript RNA

56
Q

Sigma factor

A

Protein needed only for initiation of RNA synthesis

57
Q

Cis-acting elements

A
  • DNA sequences such as the TATA box, enhancers, and silencers exert their effects only over a particular gene
  • possibly far from the core promoter, are always found within the same chromosome as the genes they regulate
  • “next to”
58
Q

Trans-acting factors

A
  • regulatory genes that bind to such elements

- “across from”

59
Q

Enhancers -

A

Activating sequences

Needed to stimulate transcription

60
Q

Silencers

A

DNA sequences that are recognized by transcription factors that inhibit transcription

61
Q

Promoter

A

Provides a site for beginning transcription

62
Q

Terminator

A

Specifies the end of transcription

63
Q

Anticodons

A

3-nucleotide sequences that are complementary to codons in mRNA

64
Q

Allolactose in lac operon system

A

The ability of the lac repressor to bind to the operator site depends on whether or not allolactose is bound to it.

Allolactose is the inducer

The binding of allolactose alters the function of lac repressor because it prevents it from binding to the DNA

65
Q

Monogenic disorder short answer

A

-Cystic fibrosis
- Located on human chromosome 7
- encodes a protein called the cystic fibrosis transmembrane conductance regulator (CFTR)
(Regulates ion transport across the cell membrane)
- recessive disorder or humans
- a person must inherit two copies of a defective CF gene - one copy from each parent - to have the disease
- the mutant allele creates an altered CFTR protein that ultimately causes ion imbalance (leads to abnormalities in the pancreas, intestine, sweat glands, and lungs)

66
Q

Oncogene

A

Mutant gene that promotes cancer

A higher expression of an oncogene may cause a higher rate of cell division

67
Q

Tumor suppressor genes

A

A gene that functions to inhibit cancerous growth

A decrease in the expression of tumor suppressor genes may allow cancer to occur

68
Q

Lysogenic cycle

A

Phage does not direct the synthesis of new phages and does not kill the bacterial cell that acts as its host

Can exist in dormant stage for a long time

If cII protein accumulates to sufficient levels

69
Q

Holliday junction

A

A site where an unresolved crossover has occurred between two homologous chromosomes

70
Q

Mediator

A

A protein complex that interacts with RNA polymerase II and various regulatory transcription factors

Depending on its interactions with regulatory transcription factors, mediator may stimulate or inhibit RNA polymerase II

71
Q

Operator

A

A sequences of nucleotides in bacterial DNA that provides a binding site for a genetic regulatory protein

Lac repressor

72
Q

Lac repressor

A

Protein that regulates the lac operon by binding to the operator site and repressing transcription

73
Q

Shine-dalgarno sequence

A

A sequence in bacterial mRNAs that functions as a ribosomal binding site

74
Q

Transposon

A

Type of transposable elements that moves via transposase

Simple transposition

Widely found in bacterial and eukaryotic species

75
Q

Trp repressor

A

Trp operon is regulated by the trpR gene, which encodes the trp repressor protein

When tryptophan levels within the cell are very low, the trp repressor cannot bind to the operator site

76
Q

Wobble

A

Rules that govern the binding specificity between the third base in a codon and the first base in an anticodon

77
Q

Pedigrees

A
Open circle - female
Open square - male
Diamond - sex unknown
Open with line through - deceased
Open with no line - unaffected 
Filled in - affected
78
Q

cross

A

When two distinct individuals with different characteristics are bred to each other

79
Q

Basal transcription apparatus

A

The minimum number of proteins needed to transcribe a gene

80
Q

DNA replication

A
  • Topoisomerase II (DNA gyrase) travels in front of DNA helicase and alleviates positive supercoiling
  • single-strand binding proteins
  • RNA primers
  • primase synthesizes rna strands by the linkage of ribonucleotide
  • DNA polymerase responsible for synthesizing the DNA of the leading and lagging strands
81
Q

Homologous recombination

A

Requires the participation of many proteins that catalyze different steps in the recombination pathway

Single-strand binding protein

82
Q

Human antibodies

A

Proteins produced by the immune system of vertebrates

B cells

83
Q

Most sequence variation in humans is due to..

A

SNPs

84
Q

Chromosome structure

A

Centromere in middle

85
Q

Chemical bonds in DNA

A

Sugar deoxyribose, a phosphate group and complementary nitrogenous base pairs

Sugar-phosphate backbone

Base pairs linked by hydrogen bonds

86
Q

Insertion

A

Mutations in which extra base pairs are inserted into a new place in the DNA

87
Q

Deletion

A

Section of DNA are lost or deleted

88
Q

Frameshift

A

Insertions and deletions can alter a gene so that it’s message is no longer correctly parsed

89
Q

Substitution

A

Mutation that exchanges one base for another