biol 1114 unit 2 notes

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7/13/2019 BIOL 1114 Unit 2 Notes http://slidepdf.com/reader/full/biol-1114-unit-2-notes 1/40 BIOL 1114 Unit 2 Notes Genetics Lecture 13 The Central Dogma  Accessing Genetic Information  Transcription; Protein Synthesis  6 seconds (60m): ATP reserves depleted  15 sec (150m): Creatine phosphate reserves depleted  Next 45 sec (200m): Fermentation pathways of ATP production o Lactic acid buildup o Oxygen debt o High Altitude Training = more red blood cells/more oxygen [7.3AB, 7.4AB] Overview of Protein Synthesis  Amino Acids = monomers of proteins  DNA Codes for proteins o Transcription: transfer of info from DNA to mRNA  In nucleus o Translation: transfer of info from mRNA into a polypeptide  In cytoplasm – ribosomes  DNA (transcription) -> mRNA (Translation) -> Ribosomes (protein synthesis) -> RNA Polymerase (-ase = protein)  G1 and G2 in cell cycle Transcription   ALWAYS read the Template Strand   RNA Polymerase reads the Template Strand Promoter: [TATA Box], TATA Binding Protein, Transcription Factors, RNA Polymerase Starts Transcription^  Promoter Region: o [TATA Box] o [TATA Binding Protein]: recognizes the TATA box and binds to it  o [Enhancers]  o [Transcription Factors] bind to the enhancers  

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    BIOL 1114 Unit 2 Notes

    Genetics

    Lecture 13

    The Central Dogma

    Accessing Genetic Information Transcription; Protein Synthesis

    6 seconds (60m): ATP reserves depleted

    15 sec (150m): Creatine phosphate reserves depleted

    Next 45 sec (200m): Fermentation pathways of ATP production

    o Lactic acid buildup

    o Oxygen debt

    o High Altitude Training = more red blood cells/more oxygen

    [7.3AB, 7.4AB]

    Overview of Protein Synthesis

    Amino Acids = monomers of proteins

    DNA Codes for proteins

    o Transcription:transfer of info from DNAto mRNA

    In nucleus

    o Translation: transfer of info from mRNAinto a polypeptide

    In cytoplasmribosomes

    DNA (transcription) -> mRNA (Translation) -> Ribosomes (protein synthesis) ->

    RNA Polymerase (-ase = protein)

    G1 and G2 in cell cycle

    Transcription

    ALWAYS read the Template Strand

    RNA Polymerase reads the Template Strand

    Promoter: [TATA Box], TATA Binding Protein, Transcription Factors, RNA Polymerase

    Starts Transcription^

    Promoter Region:

    o [TATA Box]

    o [TATA Binding Protein]: recognizes the TATA box and binds to it

    o [Enhancers]

    o [Transcription Factors] bind to the enhancers

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    o [DNA bends] so the transcription factors connect to the TATA binding

    proteins and RNA Polymerase

    o [RNA Polymerase]: connects and starts transcription

    Always add to the 3 End

    DNA template 3 to 5 DNA coding 5 to 3

    RNA 5 to 3

    [Terminator Region]:

    o End of the gene

    o Stops the coding of genes

    Messenger RNA Processing

    Exons (A, B, C)

    Introns (1, 2, 3)o Get snipped out

    o Non-coding

    mRNA cap copied + Poly A tail (AAA)

    Splicing

    o mRNA contains only Exons (A, B, C)

    o mRNA cap --- 5 *Exon A, Exon B, Exon C,+ 3 --- Poly A Tail

    o Directed to ribosomes

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    Translation

    20 Amino Acids; 4 nucleotides (ATCG , AUCG)

    o 1:1 code: only 4 amino acids

    o Doublet code: only 16 amino acids

    o Triplet code: 64 amino acids

    mRNA = 3 letter codes for codons

    AUG is always the code at the start

    Codes for M, or signals the beginning of a protein

    UAA, UAG, UGA is always the end

    Different from the terminator Signals the end of a protein; release factor connects to

    dissemble elements

    Peptide bonds are covalent

    mRNA = codons (used to read code) AAG = Lysine

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    mRNA: language translated to polypeptide language

    tRNA is the translator:

    o picks up amino acids

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    recognizes codons on mRNA (contains anticodons)

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    Many ribosomes translate mRNA

    Its kinda like a library of books being read by someone

    Library = all the cells DNABook = one gene

    Reader = RNA Polymerase

    Transcription = transposing wiring music from one key to another

    Translation = reading music from a page to play music

    AUC CUU GCA GUG GAA UGG GAG

    I LAV EWE

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    Gene Regulation

    Mutations

    Specialization:cells express different genes in same DNA

    (How does a cell know what genes to turn on?)

    Ex. Cell type; pancreas eye lens nerveGlycolysis enzyme: on on on

    Crystalline gene: off on off

    Insulin gene: on off off

    Hemoglobin gene: off off off

    Regulation of gene expression

    Enzyme inductionthe lac operon(in bacteria)

    E. coli, exposed to glucose, fat (donut for breakfast)

    o Make enzymes that break down glucose and lipids

    Repressor protein:binds to DNA and blocks transcription Lactose is not present

    E. coli, exposed to lactose, cellulose (salad and milkshake)

    o After lactose becomes present, it

    o binds to the repressor and pulls it off of the DNA, to continue

    transcription;

    o enzymes that break down lactose are translated,

    o lactose becomes digested, repressor protein binds back to DNA

    Gene Regulation in Eukaryotes

    Transcription factors are the switches that turn genes on and off

    Ovaries: estrogen + progesterone (steroids, lipids made out of cholesterol)

    o Lipid-soluble hormones are secreted (non-polar molecules)

    Hormone passes through cell membranes and binds to interior

    receptor

    o Makes mRNA

    mRNA Attaches to ribosome

    Certain genes activated leading to production of new

    proteins

    o Hormones change shape by receptor proteins (transcription factors)

    o

    DNA bends to attach to RNA polymerase and TATA binding proteino Transcribe and translate the genes to make proteins needed to build up

    the endometrium

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    Mutations

    Change in DNA sequence

    o Substitution

    o Insertion

    o

    Deletion Base Substitution

    o Sickle-cell disease [7.22]

    Normal:

    DNA: CTC

    mRNAGAG

    Amino acid: Glutamic Acid

    Sickled:

    DNA: CAC

    mRNA: GUG

    Amino acid: Valineo Not Always noticeable (Silent)

    Normal:

    CTC

    GAG

    Glutamic Acid

    Sickled:

    CTT

    GAA

    Glutamic Acid

    Insert/Delete (one or more bases) Ser Gly Leu

    o Addition of a letter: Ser Pro Val Ile

    o Deletion of a letter: Ser Gly Leu

    TAC TAT GTA CGT CAG CTC TCA CGT TCG ACT

    AUG AUA CAU GCA GUC GAG AGU GCA AGC UGA

    M I HAVE SAS

    M I HAVE GAS

    Base insertion or deletion

    o

    What happens to downstream codons?

    o Change the whole reading frame

    o Near the promotor would change more than by the terminator

    o Theyll probably change

    o Usually ruins protein shape; fatal if protein is essential

    o What is # of bases is a multiple of 3?

    o Adds an amino acid to the original coding

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    o AT have more chance of mutation than CG

    Point: change in a single DNA base

    Missense: changes in a codon to code for different Amino Acids

    o Sickle-cell

    Nonsense: changes a codon to code for stop

    Frameshift: add or delete anything exceptmultiples of 3

    Figure 7.23 and Table 7.2

    Where do these mutations come from?

    o You inherit some from your parents

    o Some happen at randomin your cells

    Physical or chemical mutagensdamage DNA

    E.g. radiation, many chemicals, smoking, etc.

    Errors in DNA replication

    Errors in production of sex cells (meiosis)o Think on this: Your DNA mutates throughout your life

    Which mutations can you pass on to your children

    Cancer

    Two major classes of cancer causing genes

    o Oncogens:normally trigger cell division, (such as in would healing), but

    are over-exposed in cancer cells

    o Tumor suppressor genes: normally prevent a cell from dividing

    Arises from mis-timed or misplaced cell division

    o Or absence of normal apoptosis

    Since proteins control cell cycle, and proteins are coded by DNA, DNA mutations

    can lead to inappropriate cell division

    10% of human genes code for transcription factors (turn genes on and off)

    Meiosis [9.1-9.6]

    Figure 9.5

    Animal body -> Meiosis (diploid) -> gametes (eggs and sperm) haploid -> Fertilization

    (diploid) -> Mitosis (diploid)

    Homologous chromosomes: matched pair Both carry genes controlling the same inherited characteristics

    o Example: gene for eye color may be located on this chromosome, in this

    spot (might be different versions (alleles))

    o Not identical; they just carry the same types of genes

    o Of our 23 pairs of chromosomes:

    22 pairs = autosomes

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    1 pair = sex chromosomes (23

    rdchromosome)

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    Meiosis Stages

    Before meiosis is interphase, then:

    Meiosis I = reduction division

    o Prophase I

    Diploid Doubling of DNA

    synapsis: homologs line up next to one another to form tetrads

    (early)

    crossing over occurs(late)

    o Metaphase I

    Diploid

    Spindle fibers

    Side by side, alignment; not single file line across equator

    Independent Assortment

    o

    Anaphase I

    Diploid

    The centromere for the chromosomes are not broken

    o Telophase I and cytokinesis

    Diploid

    Opposite poles

    Nuclear envelope

    Meiosis II = equational division

    o Prophase II

    Haploid

    2 separate cells

    o

    Metaphase II Lined up single file

    o Anaphase II

    Centromeres are broken

    o Telophase II and cytokinesis

    Haploid

    Nuclear envelope

    Four nonidentical haploid daughter cells

    Create variety

    Comparison of meiosis & mitosisMeiosis I

    Prophase

    o Synapsis; can be long

    o Crossing over

    Metaphase I

    o Homologous pairs align, side by side

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    Anaphase

    o Centromeres do not divide

    Mitosis

    Prophase

    o No synapsis

    o

    No crossing over Metaphase

    o Individual chromosomes align, single file

    Anaphase

    o Centromeres divie

    Meiosis II is similar to mitosis: sister chromatids separate

    Mitosis starts 2n ends 2n (2 identical cells)

    Meiosis starts 2n ends n (4 non-identical cells)

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    Gamete Formation[9.8a, 34.2b, 34.3b, 10.1]

    The Mitosis Waltz

    Variation

    Diploid # of 4

    Haploid # of 2

    2 homologous pairs of chromosomes

    3 pairs, 8 possible outcomes

    number of combinations = 2# of pairs

    Meiosis generates genetic variety:

    223

    = 8,388,606 (form independent assortment)

    223

    (sperm) x 223

    (egg) = 70,368,744,177,664

    (this doesnt count crossing over)

    If a normal diploid cell has 8 chromosomes, then

    There are 4 homologous pairs of chromosomes per pair

    There are 16 chromatids per diploid cell between S and the first division of

    meiosis

    There are four chromosomes per cell after meiosis

    Sperm cells made from this diploid cell would have 8 chromosomes

    Gamete formation in Males

    Chromosomes in the Nucleus

    Acrosome = golgi apparatus

    o Has enzymes that help burrow through cells to find the eggs

    Spiral mitochondria

    Tail: to swim

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    Sperm are made in the testes

    o Seminiferous tubules: 150 meters (place of meiosis)

    The walls, stem cells that keep dividing

    Spermatogenesiso 2n (diploid): spermatogonium (spermatogonia)

    o Mitosis: process another 2n cell (primary

    spermatocyte)

    begins Meiosis (primary spermatocyte)

    o Morph into secondary spermatocytes (2 cells, n =

    haploid)

    begins Meiosis II

    o Morph into early spermatids

    o Morph into late spermatids

    o Morph into sperm

    Production:

    50,000/s

    70 days

    50-500 million/ejaculation

    o Epididymis: collect sperm to queue

    Cells in the process of metaphase I in the human male are called:

    Primary Spermatocytes

    If an intestinal cell in a grasshopper contains 12 chromosomes, a grasshopper secondary

    oocyte would contain 6 chromosomes

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    Gamete formation in females

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    Oogenesis

    2n = Oogonium (oogonia)

    o Primordial follicle

    o Primary oocyte

    Before birth Mitosis to generate up to 7 million oogonia (potential eggs)

    Primary oocyte arrested in prophase I

    At birth, about 2 million remain

    Childhood

    o Primary oocyte arrested

    Puberty

    o Few get called up to continue

    o Prophase I

    ~400,000

    Each month a few follicles begin to grow Growing (nursing) follicle cells

    Day 14 = ovulation = n = haploid

    Secondary oocyte

    Meiosis I complete

    First polar body (nucleus growing on

    the side

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    Secondary oocyte arrested in

    metaphase II

    If not fertilized, it will stay in

    metaphase II

    Is fertilized, (w/ sperm cell) meiosis

    II is completedo 3

    rdand 4

    thpolar bodies will

    divide (1 fertilized egg and 3

    polar bodies)

    o Becomes zygote

    First cell division

    begins ~24 hours

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    Single Gene Inheritance [10.1, 10.2A-D, 10.3AB]

    Mendelian Genetics

    Introduction to Probability

    Any event has a probability of occurring between 0 and 1 (inclusive)

    o

    0 = no chanceo 1= 100% chance

    o 0.5 = 50% chance

    Flip a coin

    Possibility of tossing heads = = 50%

    Tossing heads twice = x = chance = 25%

    Tossing heads thrice = x x = 1/8

    Roll a 6 sided die

    Roll a 3 = 1/6 chance

    Roll a 3 six times = 1/6

    6= 1/46656

    Gregor Mendel & Pea Plants

    Why garden peas?

    o Many distinct varieties

    o Lots of offspring, quickly

    o Strict control of mating

    o Possess either-or traits

    o Can cross-fertilizeeasily

    Flower

    Male = stamens (sperm)

    Female = stigma (egg)

    Pollen from stamen travels to stigma and begins fertilization

    o [10.2

    Tracing the Inheritance of One Gene; Principle of Segregation

    What Mendel did..

    Started with true-breedingparents

    Cross-fertilized two true breeding varieties

    o Purple flowers; always breed purple flowers (RR)

    o

    White flowers; always breed white flowers (rr)

    P generation = original parents (true-breeding)

    o Purple (RR) x White (rr)

    F1 Generation hybrids

    o All Purple (Rr)

    Purple (Rr) x Purple (Rr)

    F2 Generation

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    o Mostly Purple (RR, Rr) some white (rr)

    F2 generation 929 pea plants

    Purple 705

    White 224

    o About purple, white

    o

    3:1 ratio of purple to white flowers For each cross, Mendel found a 3:1 phenotypic ratio in the F2 generation

    Mendel concluded that:

    o Alternate forms of genes (alleles) account for variation

    o For each character, an individual has two alleles, one from each parent

    o If two alleles, differ, the dominantallele is fully expressed, while the

    recessivehas no effect

    Mendels Principle of Segregation

    o Pairs of elementen (alleles) segregate (separate) during gamete formation

    Anaphase I

    Homologs separate Alleles are on the homologous chromosomes

    Replication in interphase

    Meiosis: segregates alleles into gametes

    Fertilization: gametes combine

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    (TT)

    o Genotype: homozygous dominant

    o Phenotype: tall

    (Tt)

    o

    Genotype: heterozygouso Phenotype: Tall

    (tt)

    o Genotype: Homozygous recessive

    o Phenotype: short

    P generation (true-breeding parents)

    Phenotype: Purple Flowers (PP) dominant

    Phenotype: White Flowers (pp) recessive

    P Generation: PP x pp = P (sperm) p(eggs) = Pp

    F1 Generation = Pp (heterozygous) Purple Flowers

    Pp x Pp

    Pp (sperm) x Pp (eggs) [meiosis]

    F2 Generation

    o PP (purple), Pp (purple), Pp (purple), pp (white)

    o 3:1 phenotype ratio

    o 1:2:1 genotype ratio

    Punnett Squares

    F1: Pp x Pp

    PP, Pp, Pp, pp

    3:1 phenotype ratio (F2 generation)

    1:2:1 genotype ratio (F2 generation)

    P generation: PP (tall) x pp (short)

    F1 generation: Pp, Pp

    F2 generation: PP, Pp, Pp, pp; 3 tall : 1 short

    Test CrossUsing a Punnett Square to determine unknown parental genotype

    Chance is a male, liver-spotted Dalmatian

    Spot color is genetically determined

    Chances genotype is bb

    Probability has black spots; we dont know for certain what her genotype is

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    She could be heterozygous (Bb) or homozygous dominant (BB)

    99 puppies

    48 black, 51 brown = heterozygous (Bb); about 50% chance

    Homozygous dominate

    bb x BBo Bb 100% black

    Heterozygous

    bb x Bb

    o Bb 50% black

    o bb 50% brown

    Could she have a litter of 8 black puppies even if she were heterozygous (50% black)?

    x x x x x x x = 1/28= 1/256; slim chance, but yes.

    The probability of one of her puppies having black spots is, 1(bb) x (Bb)= (50%black)

    P generation: RR (homozygous dominant) x rr (homozygous recessive)

    F1 generation: Rr (heterozygous) offspring

    Principle of Independent Assortment

    Each pair of alleles segregates independently of each other

    o Metaphase 1

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    Meiosis I

    Metaphase I

    4 possible gamete types

    Tracing two genes

    Solid color (HH) is dominant to points (hh)Long hair (LL) is dominant to short hair (ll)

    HHLL x hhll

    How to determine the gametes:

    for one set of genes:

    o Genotype: Bb

    o Gametes: Bb

    For two genes, remember independent assortment

    o

    Genotype: AaBbo Gametes: AB, Ab, aB, ab

    4 sperm, 4 eggs = 16 punnett quare

    P Generation:

    HHLL x hhll

    o HL x hl

    F1 Generation:

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    HhLl (heterozygous for both traits)

    Solid color, long hair

    F2 Generation (16 squares)

    HL, Hl, hL, hl x HL, Hl, hL, hl

    o HHLL HHLl HhLL HhLl

    o

    HHLl HHll HhLl Hhllo HhLL HhLl hhLL hhLl

    o HhLl Hhll hhLl hhll

    3:1 ratio still exists

    12:4 ratio

    Solid Colored, Long Haired (H,L): 9 (dominant, dominant)

    Solid Colored, Short Haired (H,ll): 3 (dominant, recessive)

    Points, Long Hair (hh,L): 3 (recessive, dominant)

    Points, Short Hair (hh,ll): 1 (recessive, recessive)

    o 9:3:3:1 (phenotypic ratio)

    o

    Di-hybrid cross

    Tracing Inheritance of Multiple Genes; Product Rule [10.4AB]

    Tracing Inheritance of Two Genes

    The Product Rule:

    3 genes: 8 different gametes; 64 boxes

    o AaBbCc

    o ABC Abc ABc AbC aBc abC aBC acb

    4 genes; 16 different gametes; 256 genes

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    The chance that 2 independent events will both occursuch as 2 alleles both

    being inheritedequals the product of the individual chances that each event

    will occur

    o Note: you can use the Product Rule if you see statements like this:

    Assume the genes assort independently

    The genes are on different homologous pairs of chromosomes The genes are not linked

    Cross 2 trihybrid plants that are tall, and have round, yellow, seeds. What is the chance

    that the offspring is also a trihybrid. [Assume the genes assort independently]

    TtRrYy (heterozygous) x TtRrYy (heterozygous)

    TT Tt 2/4 = (Tt)

    Tt tt

    RR Rr 2/4 = (Rr)

    Rr rr

    YY Yy 2/4 = (Yy)

    Yy yy

    (Tt) x (Rr) x (Yy) = 1/8 TtRrYy

    Cross 2 trihybrid plants that are tall, and have round, yellow, seeds. What is the chance

    that the offspring will be short with wrinkled, green seeds?

    (tt) x (rr) x (yy) = 1/32 ttrryy

    Cross 2 trihybrid plants that are tall, and have round, yellow, seeds. What is the chance

    that the offspring will be short, with round seeds and heterozygous for seed color?

    (tt) x (RR or Rr) x (Yy) = 3/32 ttRrYy or ttRRYy

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    Cross a fish that is heterozygous for big body (Bb), homozygous for long tail (LL), and has

    green scales (rr) with a fish that is heterozygous for big body (Bb), has a short tail (ll),

    and is heterozygous for red scales (Rr). Big body size, long tail, and red scales are

    dominant alleles for these traits. What proportion of the offspring do you expect to be

    heterozygous for all three traits?

    BbLLrr x BbllRr

    BB Bb 1/2

    Bb bb

    Ll Ll 1

    Ll Ll

    Rr rr 1/2

    Rr rr

    (Bb) x 1 (Ll) x (Rr) = Chance(25%) BbLlRr

    ----

    BbLLrr x BbllRr

    bbLLRr

    (bb) x 1 (Ll or LL) x (Rr or RR) = 1/8 chance

    If 80 fish produced, 10will be bbLLRr

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    ----

    Refer to the table and cross a pea plant that is heterozygous for seed form (Rr),

    homozygous recessive for seed color (yy), heterozygous for pod form (Vv), and has

    yellow pods (gg) with (x) a pea plant that has wrinkled seeds (rr) and is heterozygous for

    seed color (Yy), pod form (Vv), and pod color (Gg). If 100 offspring are produced,

    approximately how many do you expect to show the recessive phenotype for all fourtraits? [Assume these genes assert independently]

    RryyVvgg x rrYyVvGg

    Rr rr

    Rr rr

    Yy yy

    Yy yy

    VV Vv

    Vv vv

    Gg gg

    Gg gg

    x x = 1/32

    1/32 x 100 offspring = 3 offspring rryyvvgg

    ----

    Complications to Mendelian Ratios [10.6AB, 10.9AB]

    All of these things complicated matters:

    Multiple alleles:more than 2 alternative forms of a gene;

    o e.g. human blood type, rabbit coat color

    Co-dominance:both alleles are equally expressed; more than one allele may be

    expressed

    Human blood type

    o

    3 alleles: IA

    , IB

    , i I

    A: red blood cells coated with carbohydrate A

    IB: red blood cells coated with carbohydrate B

    I: no carbohydrate

    Immune system reacts to carbohydrates not found in your own body [Fig. 29.5]

    o 6 genotypes

    o 4 phenotypes

    o Figure 10.15

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    Anti-B

    Antibodies

    Anti-A

    Antibodies

    Co-dominant

    No antibodies

    Universal

    Recipient

    Both antibodies

    (Anti-A + Anti-B)

    Universal Donor

    Recipients blood in test tube: Type A

    Anti-B Antibodies

    o

    Donor has Type Bo The Anti-Bs attack the Bs from the donors blood

    o Clumping= bad

    If type a gives to type b, would there be clumping? Yes. Bad

    A to AB. No. Good

    B to AB. No. Good

    O to AB. No Good

    B to O. Yes. Bad

    A to O. Yes Bad

    AB to O. Yes. Bad

    AB to A Yes. Bad AB to B. Yes. Bad

    O to A. No. Good

    O to B. No. Good

    Couple 1: O (IAIB) x A (I

    AIAor I

    Ai) = Type A (I

    AIB)

    Couple 2: B (IBIBor I

    Bi) x AB (I

    AIB) = Type AB (I

    AI

    Aor I

    Ai)

    Couple 3: B (I

    BIBor I

    Bi) x B (I

    BIBor I

    Bi)= Type O (ii)

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    Epistasis:one gene masks anothers phenotype

    o Gene 1 codes for protein 1

    o Gene 2 codes for protein 2

    If protein 1 is not present, gene 1 and gene 2 cannot be present

    H Gene

    Incomplete Dominance:

    o Snapdragon flowers: red flowers, white flowers, pink flowers

    P generation: red and white r1r1 x r2r2

    F1: pink r1r2 x r1r2

    F2: 1 red (r1r1), 2 pink (r1r2), 1 white (r2r2)

    Lethal alleles:causes development to stop before birth

    o Chihuahuas:

    HH lethal (stop development)

    Hh hairless Hh hairy

    Hh x Hh

    o HH, Hh, Hh, hh

    o Phenotype ratio: 2 hairless : 1hairy

    o Genotypic ratio: 2 Hh: 1 hh

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    Polygenic Inheritance:skin pigmentation/coloration

    o More Dominant genes = darker color

    Environmental Effects: Siamese Cats

    o Dark points on Siamese cats occur on the extremities of the body

    Feet, ears, tail

    o Effected by the temperature of the cells that dictate the pigment of the

    skin at the time of creation

    Chromosomes & Gene Linkage [10.1, 10.5AB]

    How to solve genetics problems (p 226-227) + emailed problems

    Chromosomal Basis of Inheritance

    Linked Genes

    Genetic Maps Based on Crossover Data

    Thomas Hunt Morgan(early 1900s) Drosophila melanogaster (fruit fly)

    Morgan associated a specific gene with a specific chromosome

    Fruitfly has 8 chromosomes, 4 pairs; male has hooked chromosome

    Prophase 1, Metaphase 1 [independent assortment], (diploid 2n=4)

    If genes are on the same homologous chromosome

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    Linked Genes:

    Located close together on the same chromosome

    Tend to be inherited together

    o If genes are on the same chromosome, only 2 allele combinations are

    expected in the gametes, and the number of phenotypes is reduced

    b+b vg

    +vg (Female) x bb vgvg (Male)

    BbVv (Female) x bbvv (Male)

    b: refers to black body (mutant body type)b

    +: dominant allele (gray body

    b: recessive allele (black body)

    vg: refers to vestigial wings (mutant type)

    vg+: dominant allele (normal wings)

    vg: recessive allele (vestigial wings)

    BbVv bbVv Bbvv bbvv

    965 185 206 944

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    So these genes are linkedon the same chromosome

    If the genes are lined, why do all the other combinations occur at all?

    Crossing over, Prophase 1

    S phase: replication of DNA in chromosomes

    Prophase 1: BV BVbv bv

    End of Meiosis 1: B

    End of Meiosis 2: BV -- BvbV -- bv

    Genetic Maps Based on Crossover Data

    Recombinants / Total = Recombination Frequency

    Total: 965 + 185 + 206 + 944 = 2300

    Recombinants: 185 + 206 = 391

    391 / 2300 = .17 = 17% = Recombination Frequency

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    A.H. Sturtevant (Morgans student)

    The probability of crossing over between two genes is directly proportional to

    the distance between them

    Genes are farther apart, genes are more likely to crossover

    o Distance between linked genes determines how often they will be split

    up Map unit = 1% recombination frequency

    Loci/Locus (address) Recombination Frequency Approximate Map Units

    b vg 17% 17 (18.5)

    cn b 9.0% 9.0

    cn vg 9.5% 9.5

    32 DE

    18 +22

    40/100 = 40% (DE)

    23 AD

    2+3

    5/50 = 10% (AD)

    36 AE

    15+15

    30/100 = 30% (AE)

    E A D

    Or

    D A E

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    Sex-linked Traits [10.7A-C, 10.8]

    Assume genes A and B are linked and are 40 map units apart. An individual

    heterozygous (AaBb) at both loci is crossed with an individual who is homozygous

    recessive and (aabb) at both loci. If 100 offspring are produced, how many would be

    (aabb)?

    A40B

    40% AB = 20 + 20 for recombinants

    100-40=60 /2 = 30 for parentals

    AaBb aaBb Aabb aabb

    30 20 20 30

    Chromosomes and Sex Determination

    Mammals:o Male is heterogametic (XY)

    o Female is homogametic (XX)

    Birds and many other animals: female is heterogametic

    Extremely diverse

    SRY specifies maleness in humansproduces protein that directs development

    of male structures

    In humans, female by default until this SRY gene is activated

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    X-linked:genes transmitted on X chromosomeo Red-green colorblindness; males more likely to have it

    Y-linked:genes transmitted on Y chromosomeextremely rare in humans

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    X Inactivation

    Inactivation of one X chromosome (randomly) per nucleus in female humans Barr Body

    o All subsequent cells will have the same X chromosomes inactivated

    In which cats did X inactivation happen earliestin development?

    Large patchesor small patches?

    A genetic counselor is asked for a probability that the male offspring of a husband and

    wife will be color-blind. The woman has normal vision, but her father is color blind, the

    man also has normal vision, but his father is color-blind as well. (note: color-blindness is

    sex-linked and recessive)

    Half the male offspring will be color-blind, and half will have normal color vision

    XX (carrier) * XY

    XX XY

    XX XY

    --

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    Review

    Transcription: in the nucleus

    Translation: in the cytoplasm

    Introns are spliced from sections of mRNA before exiting the nucleus

    Which of the following forms hydrogen bonds with the anticodon?

    MRNA

    In translation. mRNA contains the codon

    How many of the following terms apply to events that take place during the processes

    of transcription and translation in eukaryotes before the mRNA transcript leaves the

    nucleus

    Release factor attaches to stop codon TAT binding protein binds to promoter

    5 cap added

    Peptide bond formed

    Small rRNA subunits joins mRNA

    tRNA binds opposite codon

    Introns removed

    Transcription factors bind to enhancer

    Which of the following early-in-the-strand DNA template strand substitutions would

    have the worst results?

    CTT -> CTC

    GAA (E) -> GAG (E)

    GGA -> GGC

    CCU (P) -> CCG (P)

    ATG -> ATT

    UAC (Y) -> UAA (stop codon)

    Given that the haploid number (n) for this species is 2 and the diploid number (2n) is 4

    Aligned single file as whole (diploid) chromosomes

    Metaphase of mitosis

    If an intestinal cell in a grasshopper contains 24 chromosomes, a grasshopper secondary

    spermatocyte would contain 12 chromosomes (meiosis II; haploid chromosomes: 24 /2

    = 12 chromosomes)

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    Meiosis occurs in the walls of the seminiferous tubules of male mammals

    What is the chance of flipping 5 coins at the same time and getting the result of heads

    on each of them?

    1/32 = (1/25)

    If a man and a woman have four children (none of them twins), the chance that all four

    will be boys is 1 in 16.

    1/24

    = 1/16 True

    Assume free ear lobes are dominant to attached ear lobes. A woman with attached ear

    lobes mates with a heterozygous male. Their first two offspring have free ear lobes.

    What is the probability that their third offspring will have attached ear lboes

    P1: Rr x rr

    F1: Rr =50%

    rr =50%

    A heterozygous individual is more likely to pass on a dominant allele than a recessive

    allele

    False = equal chance Rr

    A female fruitfly that is heterozygous for wing type is mated with a male fruit fly that is

    homozygous recessive for wing type as shown by the following drawing

    Which of the following sets of numbers would be most likely for the numner of

    genotypes represented by their offpring?

    Vv x vv

    432 Vv + 441 vv

    50/50 chance

    Assume the allele for long pinkie finger is dominant to short pinkie fingers. If a man who

    is heterozygous (Ll) for this allele has a child with a woman who is homozygous recessive

    (ll) for this same allele, what are the possible genotypes of this offspring

    Ll x ll

    Ll ll Ll ll

    To perform a test crossfor independently assorting traits, you mate an organism with

    an unknown genotype with an organism that is homozygous recessive

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    What is the expected ratio of the gametes from the following genotype: AABb (assume

    that these genes assort independently)

    AABb

    1 AB : 1 Ab

    In a species known as squeaks white ears are dominant to red ears and short hair is

    dominant to long hair. You want to breed a red-eared, long-haired female with a white-

    eared, shorthaired male. The female and male are homozygous for both traits. These

    genes assort independently. If the mating produces 16 offspring, how many will you

    expect to have red ears and long hair?

    0

    --

    How many different kinds of gametes would you expect from an individual with the

    following genotype? AABbCcDdee

    1 (AA) x (Bb) x (Cc) x (Dd) x 1 (ee) = 8

    --

    Cross a true breeding female that is homozygous dominant for both characters with a

    true breeding male that is homozygous recessive for both traits. Which of the following

    represent the genotypes and phenotypes of their offspring (F1)

    P1: BBWW (black eyes, wide gape) x bbww (orange eyes, narrow gape)

    F1: BbWw black eyes and wide gape

    Now cross two of the F1 individuals is 1000 individuals are produced in the F2

    generation, approximately how many do you expect to have black eyes and a narrow

    gape?9:3:3:1 ratio

    black eyes, narrow gape = 3/16 x 1000 = 187.5

    3/16 x 1000 = 188

    --

    A couple has three children, all of whome have brown eyes and blond hair. Both parents

    are homozygous for brown eyes (BB), but one is a blond (rr) and the other is a redhead

    (Rr). What is the probability that their next child will be a brown-eyed redhead

    BBrr x BBRr

    BBrr (50) BBRr (50)

    --

    Cross 2 trihybrid plants that are tall and have round yellow seeds (TtRrYy). What is the

    chance that the offspring will be tall, with wrinkled, yellow seeds

    (TT,Tt) x (rr) x (YY,Yy) = 9/64

    --

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    ABO blood types in humans are determined by a single gene having three alleles, IA, IB,

    and i. A mother with blood type A has a child with blood type O. What is the mothers

    genotype? IAi

    Mom: IAi

    Dad: i?Baby: ii

    --

    Baby Making couples

    --

    Recombination frequency mapping

    --

    Genes D and F are on the same chromosome. The Dross DdFf x ddff yields 1000

    offspring. 150 of which are genotype ddFf. About how many map units apart of D and F

    150 x 2 = 300

    300/1000 = 30%