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Announcements: 1-30

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Announcements: 1-30 Tutoring Troy Central Wednesday!! Sections 14.1 and 14.2 from Workbook Quiz Friday ( Section 14.1) Homework: Chapter 14 Vocabulary – PowerPoint PPT presentation

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Title: Announcements: 1-30


1
Announcements 1-30
  • Tutoring Troy Central Wednesday!!
  • Sections 14.1 and 14.2 from Workbook
  • Quiz Friday ( Section 14.1)
  • Homework
  • Chapter 14 Vocabulary

2
Announcements 1-31
  • Tutoring Troy Central Tomorrow - Wednesday!!
  • Sections 14.1 and 14.2 from Workbook
  • Quiz Friday ( Section 14.1)
  • Homework
  • Work on Create-A-Kid Packet

3
Bell Work 2-1
  • Take Out Create-A-Kid so I can Stamp
  • Begin working
  • Worksheet 3 1-2
  • If you are finished, begin your homework
  • Outline Section 14.1 (1.5 Pages in length,
    minimum)

4
Announcements 2-1
  • Tutoring Troy Central TODAY!!
  • Sections 14.1 and 14.2 from Workbook
  • Quiz Friday ( Section 14.1)
  • Homework
  • Outline Section 14.1
  • 1.5 Pages in length
  • Bring Colors and Create-A-Kid Packet
  • Bring Both forms that need to be signed by parents

5
The Human Genome
  • Chapter 14

6
Section 14-1 Human Heredity
Section 14.1 Key Concepts How is sex
determined? How do small changes in DNA Cause
genetic disorders?
  • Human Chromosomes
  • Karyotype
  • A picture of chromosomes taken during mitosis
    and cut out and arranged into homologous pairs.

7
Section 14-1 Human Heredity
  • Chromosomes
  • B. Diploid Cell ________ of homologous
    chromosomes
  • Human diploid cell has ____ chromosomes arranged
    in ____ pairs
  • The 46 chromosomes contain

Two sets
46
23
6 billion nucleotide pairs
8
I. Chromosomes
C. Mendelian genetics requires that
organisms of gene from each parent
inherit a single copy
the gametes
D. In humans, _______________ (reproductive cells
of egg and sperm) contain a single copy of each
gene (one set of genetic information).
9
Section 14-1 Human Heredity
I. Chromosomes
  • Gametes are formed in the __________ (sperm) and
    __________(egg) by meiosis.
  •  
  • Each gamete contains 23 chromosomes (one set) or
    __________________ (n) of chromosomes.
  •  
  • ________________ requires the egg and the sperm
    to join and produce a ______________ (fertilized
    egg) that contains 46 chromosomes (two sets) or
    _____________________ (2n).
  •  

testes
ovaries
haploid number
Fertilization
zygote
diploid number
10
Section 14-1 Human Heredity
II. Human Traits
  • Humans have 46 total chromosomes
  • 44 _____________ follow regular Mendelian
    genetics
  • 2 _________________ (X and Y) are sex-linked

autosomes
sex chromosomes
11
Section 14-1 Human Heredity
II. Human Traits
  • Pedigree Chart A pedigree chart shows the
    _________________ within a family and can be
    useful to help with __________________________
    within families. It is another __________________
  • _________ of a particular cross and the genotype
    of the family members.

relationship
genetic inheritance problems
way to predict the
outcome
12
Pedigree
Section 14-1 Human Heredity
Section 14-1
A circle represents a female.
A square represents a male.
A horizontal line connecting a male and female
represents a marriage.
A vertical line and a bracket connect the parents
to their children.
A half-shaded circle or square indicates that a
person is a carrier of the trait.
A circle or square that is not shaded indicates
that a person neither expresses the trait nor is
a carrier of the trait.
A completely shaded circle or square indicates
that a person expresses the trait.
13
Section 14-1 Human Heredity
II. Human Traits Phenotypes are determined by
genotype as well as ______________________________
__.   ________________________________ on gene
expression are not inherited, but genes are.
environmentally influenced
Environmental influences
14
Section 14-1 Human Heredity
  • Human Genes
  • The __________________ Complete set of genetic
    information
  • Composed of about 30,000 genes

human genome
15
Section 14-1 Human Heredity
III. Human Genes
  • Blood Group Genes
  • Human Blood
  • variety of genetically determined blood groups
  •  
  • Many different types of blood groups
  • ones associated with these groups are best known
  • ABO blood
  • Rh blood  
  • .

16
Section 14-1 Human Heredity
III. Human Genes A. Blood Group Genes
  • Rh blood groups controlled by single gene with
    ________________.
  • Antigen in blood
  • discovered in Rhesus monkeys.

Two alleles
17
Rhesus Monkey
18
Section 14-1 Human Heredity
III. Human Genes
  • Rh blood groups controlled by single gene with
    ________________.
  • Antigen in blood
  • discovered in Rhesus monkeys.
  • The arrangement of the alleles determines only
    _______ possible types
  • _____________ () contains antigen
  • ___________ (-) doesnt contain antigen
  • Positive is ______________ over negative.
  • Rh-positive -two genotypes Rh/Rh or Rh/Rh-
  • Rh-negative -one genotype Rh-/Rh-

Two alleles
two
positive
negative
dominant
19
Section 14-1 Human Heredity
III. Human Genes
  • ABO Blood Groups
  • Discovered in 1900 by Karl Landsteiner.
  • He realized that all blood is classified into
    four types ____, ____, ____, and _____ due to
    the presence of or absence of specific __________
    in the blood.
  •  
  • Alleles IA and IB are __________________
  • io is ________________ to both IA and IB

A
O
AB
B
antigens
codominant
_
recessive
20
Section 14-1 Human Heredity
III. Human Genes
chemical markers
Antigens are ______________________ used by the
immune system. When an unrecognized antigen is
present an immune response takes place and the
cells ____________________________.
clump or agglutinate
21
Blood Type and Antigen Interactions
Section 14-1 Human Heredity
Section 14-1
Safe Transfusions
Antigen on Red Blood Cell
Phenotype (Blood Type
Genotype
To
From
22
Bell Work 2-2
  • Turn in Signed syllabus pages on top of overhead.
  • Take out 14.1 Outline and Stamp Sheet so I can
    stamp it
  • You have 20 Minutes
  • Draw/ Color Create-A-Kid using phenotypes
  • Worksheet 3 4-6
  • If you finish early, work on homework
  • Outline 14.2 (1 Page minimum)

23
Announcements 2-2
  • Turn in Extra Credit work from yesterday
  • Quiz Friday ( Section 14.1)
  • Homework
  • Chapter 14.2 Outline (1 page minimum)
  • Finish Create-A-Kid packet

24
Section 14-1 Human Heredity
  • B. Recessive Alleles Trait controlled by a
    recessive allele. This results in the disorder
    being present ___________________________.
  • Examples include PKU (Phenylketonuria), Tay
    Sachs disease and Cystic Fibrosis, Albinism, and
    Galactosemia (See chart on page 345)

III. Human Genes
only if both alleles are recessive
25
Section 14-1 Human Heredity
  • C. Dominant Alleles Traits controlled by a
    dominant allele. This results in the disorder
    being present when __________________________.
  • Examples include Achondroplasia (dwarfism),
    Hypercholesterolemia, and Huntingtons Disease

III. Human Genes
only one allele is present
26
Autosomal Disorders
Section 14-1 Human Heredity
Section 14-1
Autosomol Disorders
caused by
include
include
include
27
Section 14-1 Human Heredity
III. Human Genes C. Dominant Alleles
Huntington Disease It is controlled by a
_________________________. The gene is located
on Chromosome 4.
single dominant allele
Genetic degenerative disease that shows no
symptoms until a person is in their
____________________. It progresses with gradual
degeneration of their nervous system leading to
loss of muscle control and mental function until
death occurs.
thirties or forties
28
Section 14-1 Human Heredity
III. Human Genes C. Dominant Alleles
Question? Would you want to know now if you
could potentially get Huntingtons disease when
you are older? Would you want to know if you
could pass the gene on to your offspring before
you have children?
29
Bell Work 2-3
  • Take out lecture outline and worksheet 3
  • Turn in Create-A-Kid to front
  • Put Stamp sheet with 14.2 Outline so I can stamp
    it

30
Announcements 2-3
  • Turn in Extra Credit work from Friday
  • Quiz Rescheduled to Monday( Section 14.1)
  • Homework
  • Worksheet 1
  • Study for the Quiz

31
Section 14-1 Human Heredity
III. Human Genes
D. Codominant Alleles controlled by
______________________________. Sickle Cell
Anemia is such a disorder. (This will be
discussed in detail later)
two alleles that share dominance
32
Section 14-1 Human Heredity
  • IV. From Gene to Molecule
  • The link between ______________________
  • is not easily determined but for several diseases
    we
  • have been able to make the connection.
  •  
  • For both _____________ and ________________
  • a small change in the DNA of a _____________
  • affects the ______________________, causing a
  • serious genetic disorder.

genetics and phenotype
Cystic fibrosis
Sickle cell disease
single gene
structure of a protein
33
Section 14-1 Human Heredity
  • IV. From Gene to Molecule
  • A.     Cystic Fibrosis (See figure 14-8 p. 347)
  • Cystic Fibrosis a.k.a. CF is a common genetic
    disease. It is most common in people of Northern
    European decent.
  •  
  • It is a _______________________ of a gene found
    on the 7 chromosome and affects
    the______________________________

Recessive disease
digestive and respiratory systems
34
Section 14-1 Human Heredity
IV. From Gene to Molecule A.. Cystic Fibrosis
  • Caused by the____________________ in
  • the middle of a sequence for a protein and
  • Causes the protein to be ______________
  • Doesnt allow Chloride ions to transport across
  • the membrane, as they should.
  • Causes the cells in a persons airways to be
    unable totransport chloride ions and become
  • __________________.

deletion of 3 bases
abnormal
clogged with mucus
35
Section 14-1 Human Heredity
Chromosome 7
CFTR gene
The most common allele that causes cystic
fibrosis is missing 3 DNA bases. As a result,
the amino acid phenylalanine is missing from the
CFTR protein.
Normal CFTR is a chloride ion channel in cell
membranes. Abnormal CFTR cannot be transported
to the cell membrane.
The cells in the persons airways are unable to
transport chloride ions. As a result, the airways
become clogged with a thick mucus.
36
Section 14-1 Human Heredity
  • IV. From Gene to Molecule
  • B. Sickle Cell Anemia
  • The patients blood cells were found to be
  • irregularly shaped, ____________________
  • how the disease got its name.
  • In normal red blood cells the
  • ____________________ carries ___________
  • and distributes it around the body.
  • In sickle cell disease, the red blood cells are
    sickleshaped, causing the blood hemoglobin to no
    longer carry oxygen as well and
    _____________________

like a sickle
hemoglobin molecule
oxygen
disrupts the normal functioning of the
bodies cells, tissues and organs
37
Section 14-1 Human Heredity
IV. From Gene to Molecule B. Sickle Cell Anemia
  • This person is deprived of oxygen and the result
    is physical weakness, and damage to the brain,
    heart, spleen. It may be fatal.
  •  
  • The cause A _________________ in the DNA that
    codes for Hemoglobin polypeptides is changed.
    This substitutes Valine for glutamic acid.
  •  
  • This change makes the hemoglobin less soluble in
    blood. This will cause the hemoglobin to come
    out of the blood and _______________. This
    crystallization causes the ________________ of
    the blood cells and the medical consequences.
  •  

single base
crystallize
sickle shape
38
Section 14-1 Human Heredity
IV. From Gene to Molecule B. Sickle Cell Anemia
The genetics The allele for sickle cell (HS) is
___________ with the allele for normal hemoglobin
(HA).
codominant
Heterozygotes (HS HA) are said to be ____ ____
__________ and have some effects of the disorder
because they have both normal and sickle cell
blood hemoglobin.
Sickle cell
carriers
39
Section 14-1 Human Heredity
IV. From Gene to Molecule B. Sickle Cell Anemia
The distribution Sickle Cell anemia is most
prevalent in people of __________________.
  10 of African Americans and 40 of
populations in Africa and Asia carry the gene for
Sickle cell anemia.   Why? The carriers for
the disease have a ___________________, a
dangerous disease caused by a blood parasite
found in tropical areas of the world.
African descent
resistance to Malaria
40
Section 14-1 Human Heredity
IV. From Gene to Molecule B. Sickle Cell Anemia
Sickle Cell Anemia is a __________ that has
provided an ____________ in Malaria prone areas
and in these areas it is _______________________
and therefore Sickle Cell Anemia persists.
mutation
advantage
favored by natural selection
HS HA
HS HS
HS HA
HS HA
HS HA
HA HA
41
Section 14-2 Human Chromosomes
  • Section 14-2 Human Chromosomes
  • Key concepts
  • Why are sex-linked disorders more common in males
    than in females?
  • What is nondisjunction, and what problems does it
  • cause?

42
Section 14-2 Human Chromosomes
  • I. Human Genes and Chromosomes
  • Human diploid cell contains ______________________
    of DNA. All neatly packed into the 46
    chromosomes.
  • __________________ of the DNA actually functions
    as genes.
  • Genes are located on the chromosomes and each
    gene occupies a ______________________ on a
    chromosome.

6 billion base pairs
Small part
specific place
43
Section 14-2 Human Chromosomes
I. Human Genes and Chromosomes
several forms
  • Genes may exist in ____________________ (alleles)
  • Each chromosome contains ______ of the alleles
    for each of its genes
  • Chromosome 21 and 22 are the ____________ of the
    human autosomes. These were the first two
    chromosomes whose sequences had been determined.

one
smallest
44
Section 14-2 Human Chromosomes
  • Both also contain genes for some genetic
  • disorders like ________________________
  • ___________________________
  • We also discovered that there are many
  • _________________________ segments of DNA
  • Human chromosomes also have_____________ that can
    cross over just as they saw in the fruit fly.

I. Human Genes and Chromosomes
Leukemia and
Amyotrophic Lateral Sclerosis (ALS)
non-coding, repeating
Linked genes
45
Section 14-2 Human Chromosomes
  • II. Sex-linked Genes
  • 1. _______________________ are the ones that
  • __________ in males and females
  • 2. Chromosomes that are the ________ in male and
    females _______________
  • 3. In humans females ____ and Males ____
  • 4. The Y chromosome is smaller than the X

Sex Chromosomes
differ
same
autosomes
XX
XY
46
Section 14-2 Human Chromosomes
  • II. Sex-Linked Genes
  • A. Sex Determination
  • 1. Female _________ carry an X chromosome
  • 2. _________ gametes can carry either an X or Y
    (meiosis segregates the chromosomes _______ of
    the sperm carry X and ______ of the sperm carry
    Y)
  • 3. In humans, _____________________ of an
    offspring
  • Female XX
  • male XY

gametes
Male
50
50
males determine the sex
X
Y


X
XX
XY
X
XX
XY
47
Section 14-2 Human Chromosomes
  • II. Sex-Linked Genes
  • A. Sex Determination
  • 4. In some animals such as birds, butterflies,
    and some fish, the female determines the sex
    because she has the __________ chromosomes.

differing
48
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked Genes 1. In
addition to determining the sex of an individual,
the sex chromosomes carry genes that
____________________
affect other traits.
49
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked Genes
Sex-linked Genetic Disorders May be on the X or
Y chromosome, but    Most often expressed in
____________because they only have one X
chromosome and thus all the alleles are expressed
even if they are recessive.
usually on the X because the Y has very few genes.
males
50
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked Genes
Colorblindness is a recessive disorder in which
people cant distinguish between certain colors.
____________________ colorblindness is most
common.   XC and Xc are ________________ for
normal and colorblind vision.
Red-green
the alleles
51
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked Genes - Color
Blindness
XC XC and XC Xc are XC Xc is a
_______________________ and can pass the gene on
to her sons. Xc Xc is a XC Y is a Xc Y
is a
both normal vision females.
carrier for colorblindness
colorblind female.
normal male and
colorblind male.
http//www.toledo-bend.com/colorblind/Ishihara.htm
l
52
Colorblindness
Section 14-2 Human Chromosomes
Father (normal vision)
Normal vision
Colorblind
Male Female
Daughter (normal vision)
Son (normal vision)
Mother (carrier)
Daughter (carrier)
Son (colorblind)
53
Colorblindness
Section 14-2 Human Chromosomes
Father (normal vision)
Normal vision
Colorblind
Male Female
Daughter (normal vision)
Son (normal vision)
Mother (carrier)
Daughter (carrier)
Son (colorblind)
54
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked
Genes Hemophilia
Hemophilia is a __________________________ in
which one is unable to clot their blood.   Also
known as   Hemophilia is caused by a defect in a
gene and the protein for normal blood clotting is
missing.  
recessive sex-linked disorder
bleeders disease.
55
Section 14-2 Human Chromosomes

56
Section 14-2 Human Chromosomes
Royal Family and Hemophilia

57
Worksheet 3 7-9
58
Agenda 2-6
  • Quiz Today!
  • Finish Lecture
  • Start Karyotype Analysis
  • Finish for Homework

59
Announcements 2-6
  • Tutoring Troy Central Wednesday!!
  • Sections 14.1 and 14.2 from Workbook
  • Exam Thursday
  • Homework
  • Karyotype Analysis

60
Section 14-2 Human Chromosomes
II. Sex-Linked Genes B. Sex-linked Genes Muscular
Dystrophy
Muscular Dystrophy is another   Here the
affected individual inherits a degenerative
__________disorder.   The gene that codes for a
_____________ is defective. They rarely live
past early adulthood.   Treatments are being
explored that ___________ the defective gene.  
sex-linked recessive disease.
muscle
muscle protein
replace
61
Section 14-2 Human Chromosomes
  • III. X-Chromosomes Inactivation
  • Males survive with only one X chromosome so, what
    do females do with 2? They ___________ it
    becomes inactive. This creates a dense region in
    the nucleus known as a ______________.
  • This is seen in coat color in cats. The cells
    will randomly shut off the coat color allele in
    one X chromosome and turn them off in the other X
    chromosome in other cells and this leads to some
    areas that are spotted orange and some spotted
    black, creating a tricolor cat, ________. This
    only happens in __________ because males only
    have one X chromosome.

shut one off
Barr body
calico
females
62
Section 14-2 Human Chromosomes
  • IV. Chromosomal Disorders
  • Whole/sets of chromosome mutations
  • _______________ failure of homologous
    chromosomes to separate normally during meiosis
  • This results in a disorder of __________________
  • 2. Examples of disorders include Downs Syndrome,
    Klinefelters, and Turners Syndrome

Nondisjunction
chromosome number
63
Section 14-2 Human Chromosomes
Nondisjunction
Homologous chromosomes fail to separate
Meiosis I Nondisjunction
Meiosis II
Go to Section
64
Section 14-2 Human Chromosomes
Nondisjunction
Homologous chromosomes fail to separate
Meiosis I Nondisjunction
Meiosis II
Go to Section
65
Nondisjunction
Section 14-2 Human Chromosomes
Go to Section
66
Nondisjunction

67
Section 14-2 Human Chromosomes
IV. Chromosomal Disorders
  • 2. Examples of disorders include Downs Syndrome,
    Klinefelters, and Turners Syndrome
  •  
  • Nondisjunction disorders Disorders in which the
    failure of _____________________ during one of
    the stages of meiosis causes a gamete to have
    _______________________________.
  •  
  • Nondisjunction can occur in ______________________
    _____.

chromosome separation
too few or too many chromosomes
autosomes or sex chromosomes
68
Section 14-2 Human Chromosomes
IV. Chromosomal Disorders
Downs Syndrome Downs syndrome is an example of
____________________________, specifically
chromosome 21. In Downs syndrome there is an
___________ of chromosome 21 (trisomy 21).
Doing a _____________ (display of all the
chromosomes in a cell nucleus) and looking at the
chromosomes under a microscope detect the extra
chromosome. Characteristics of Downs syndrome
include _________________, physically challenged,
facial irregularities, and often heart defects.
nondisjunction of an autosome
extra copy
karyotype
mental retardation
69
Section 14-2 Human Chromosomes
Incidence of Downs Syndrome and mothers age

70
Section 14-2 Human Chromosomes
IV. Chromosomal Disorders
Turners Syndrome Nondisjunction of the sex
chromosomes in which   They have the
chromosome makeup of _________ where O
represents the missing chromosome.
a chromosome is missing.
45 XO
This individual is female in appearance but does
not develop the female sex organs during puberty
and is ________.
sterile.
71
Section 14-2 Human Chromosomes
IV. Chromosomal Disorders
Klinefelters Syndrome Nondisjunction of the
sex chromosomes in which an _____________________
is present.   They have the chromosome makeup
of ________. They are ___________ in appearance
and are also sterile. May also be 48 XXXY or 49
XXXXY
extra X chromosome
47XXY
male
No nondisjunctions of the sex chromosomes have
ever produced and survived without an
______________. This is because the X chromosome
carries many genes
X chromosome
essential for life.
72
Section 14-2 Human Chromosomes
IV. Chromosomal Disorders
  • Klinefelters Syndrom - XXY condition
  • Results mainly from nondisjunction in mother
    (67)
  • Phenotype is tall males
  • Sterile or nearly so
  • Feminized traits (sparse facial hair, somewhat
    enlarged breasts)
  • Treated with testosterone injections

73
Nondisjunction of Sex Chromosomes
Section 14-2 Human Chromosomes

74
Section 14-2 Human Chromosomes
  • The impact of the sex chromosome nondisjunction
    has led us to understand the importance of the
    _____________________ in determination of sex of
    an individual.
  •  
  • This has recently been determined to be true
    because the Y chromosome has been found to have a
    gene that turns on ____________________________
    in the embryo even if many X chromosomes are
    present. 

IV. Chromosomal Disorders
Y chromosome
male sexual development
75
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