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

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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

Announcements: 1-30


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

Announcements: 1-31


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)

Bell Work: 2-1


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

Announcements: 2-1


The human genome

The Human Genome

Chapter 14


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.

Section 14-1: Human Heredity


Announcements 1 30

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


Announcements 1 30

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).


Announcements 1 30

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


Announcements 1 30

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


Announcements 1 30

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


Pedigree

Section 14-1: Human Heredity

Section 14-1

A circle represents a female.

A square represents a male.

A vertical line and a bracket connect the parents to their children.

A horizontal line connecting a male and female represents a marriage.

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.

Pedigree


Announcements 1 30

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


Announcements 1 30

Section 14-1: Human Heredity

  • Human Genes

  • The __________________: Complete set of genetic information

    • Composed of about 30,000 genes

human genome


Announcements 1 30

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  

    • .


Announcements 1 30

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


Announcements 1 30

Rhesus Monkey


Announcements 1 30

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

      • ___________ (-) doesn’t 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


Announcements 1 30

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

AB

O

B

antigens

codominant

_

recessive


Announcements 1 30

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


Blood type and antigen interactions

Section 14-1: Human Heredity

Section 14-1

Safe Transfusions

Antigen on

Red Blood Cell

Phenotype

(Blood Type

Genotype

From

To

Blood Type and Antigen Interactions


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)

Bell Work: 2-2


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

Announcements: 2-2


Section 14 1 human heredity1

III. Human Genes

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)

only if both alleles are recessive

Section 14-1: Human Heredity


Section 14 1 human heredity2

III. Human Genes

C. Dominant Alleles: Traits controlled by a dominant allele. This results in the disorder being present when __________________________.

  • Examples include: Achondroplasia (dwarfism), Hypercholesterolemia, and Huntington’s Disease

only one allele is present

Section 14-1: Human Heredity


Autosomal disorders

Section 14-1: Human Heredity

Codominant alleles

Recessive alleles

Dominant alleles

Tay-Sachs disease

Huntington’s disease

Sickle cell disease

Galactosemia

Albinism

Cystic fibrosis

Hypercholes-

terolemia

Phenylketonuria

Achondroplasia

Section 14-1

Autosomol

Disorders

caused by

include

include

include

Autosomal Disorders


Announcements 1 30

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


Announcements 1 30

Section 14-1: Human Heredity

III. Human Genes

C. Dominant Alleles

Question? Would you want to know now if you could potentially get Huntington’s disease when you are older? Would you want to know if you could pass the gene on to your offspring before you have children?


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

Bell Work: 2-3


Announcements 2 3

  • Turn in Extra Credit work from Friday

  • Quiz – Rescheduled to Monday( Section 14.1)

  • Homework:

    • Worksheet # 1

    • Study for the Quiz

Announcements: 2-3


Announcements 1 30

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


Section 14 1 human heredity3

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

Section 14-1: Human Heredity

structure of a protein


Section 14 1 human heredity4

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

Section 14-1: Human Heredity

digestive and respiratory systems


Section 14 1 human heredity5

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 ______________

  • Doesn’t allow Chloride ions to transport across

    the membrane, as they should.

  • Causes the cells in a person’s airways to be unable totransport chloride ions and become

    __________________.

deletion of 3 bases

abnormal

Section 14-1: Human Heredity

clogged with mucus


Announcements 1 30

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 person’s airways are unable to transport chloride ions. As a result, the airways become clogged with a thick mucus.


Section 14 1 human heredity6

IV. From Gene to Molecule

B. Sickle Cell Anemia

  • The patient’s 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 sickle–shaped, causing the blood hemoglobin to no longer carry oxygen as well and _____________________

like a sickle

hemoglobin molecule

oxygen

Section 14-1: Human Heredity

disrupts the normal functioning of the bodies cells, tissues and organs


Section 14 1 human heredity7

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

Section 14-1: Human Heredity

crystallize

sickle shape


Announcements 1 30

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


Announcements 1 30

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


Announcements 1 30

Section 14-1: Human Heredity

IV. From Gene to Molecule

B. Sickle Cell Anemia

mutation

  • 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.

advantage

favored by natural selection

HS HA

HS HS

HS HA

HS

HA

HS HA

HA HA


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?

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes1

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

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes2

I. Human Genes and Chromosomes

  • 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.

several forms

one

smallest

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes3

I. Human Genes and 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.

Leukemia and

Amyotrophic Lateral Sclerosis (ALS)

non-coding, repeating

Linked genes

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes4

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

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes5

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

Section 14-2: Human Chromosomes

X

Y

X

XX

XY

X

XX

XY


Section 14 2 human chromosomes6

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

Section 14-2: Human Chromosomes


Section 14 2 human chromosomes7

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.

Section 14-2: Human Chromosomes


Announcements 1 30

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


Announcements 1 30

Section 14-2: Human Chromosomes

II. Sex-Linked Genes

B. Sex-linked Genes

  • Colorblindness is a recessive disorder in which people can’t distinguish between certain colors. ____________________ colorblindness is most common.

  • XC and Xcare ________________ for normal and colorblind vision.

Red-green

the alleles


Announcements 1 30

Section 14-2: Human Chromosomes

II. Sex-Linked Genes

B. Sex-linked Genes-Color Blindness

  • XC XCand XC Xcare

  • XC Xc is a _______________________ and can pass the gene on to her sons.

  • XcXcis a

  • XC Y is a

  • XcY is a

both normal vision females.

carrier for colorblindness

colorblind female.

normal male and

colorblind male.

http://www.toledo-bend.com/colorblind/Ishihara.html


Colorblindness

Section 14-2: Human Chromosomes

Father

(normal vision)

Normal vision

Colorblind

Male

Female

Daughter

(normal vision)

Son

(normal vision)

Mother (carrier)

Colorblindness

Daughter

(carrier)

Son

(colorblind)


Colorblindness1

Section 14-2: Human Chromosomes

Father

(normal vision)

Normal vision

Colorblind

Male

Female

Daughter

(normal vision)

Son

(normal vision)

Mother (carrier)

Colorblindness

Daughter

(carrier)

Son

(colorblind)


Announcements 1 30

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”.


Announcements 1 30

Section 14-2: Human Chromosomes


Announcements 1 30

Section 14-2: Human Chromosomes

Royal Family and Hemophilia


Worksheet 3 7 9

Worksheet 3: # 7-9


Agenda 2 6

  • Quiz – Today!

  • Finish Lecture

  • Start Karyotype Analysis

    • Finish for Homework

Agenda: 2-6


Announcements 2 6

  • Tutoring – Troy Central – Wednesday!!

    • Sections 14.1 and 14.2 from Workbook

  • Exam – Thursday

  • Homework:

    • Karyotype Analysis

Announcements: 2-6


Announcements 1 30

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


Section 14 2 human chromosomes8

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

Section 14-2: Human Chromosomes

calico

females


Announcements 1 30

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 Down’s Syndrome, Klinefelter’s, and Turner’s Syndrome

Nondisjunction

chromosome number


Announcements 1 30

Section 14-2: Human Chromosomes

Nondisjunction

Homologous chromosomes fail to separate

Meiosis I:

Nondisjunction

Meiosis II

Go to Section:


Announcements 1 30

Section 14-2: Human Chromosomes

Nondisjunction

Homologous chromosomes fail to separate

Meiosis I:

Nondisjunction

Meiosis II

Go to Section:


Nondisjunction

Section 14-2: Human Chromosomes

Homologous chromosomes fail to separate

Meiosis I:

Nondisjunction

Meiosis II

Nondisjunction

Go to Section:


Announcements 1 30

Nondisjunction


Section 14 2 human chromosomes9

IV. Chromosomal Disorders

2. Examples of disorders include Down’s Syndrome, Klinefelter’s, and Turner’s 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

Section 14-2: Human Chromosomes

autosomes or sex chromosomes


Announcements 1 30

Section 14-2: Human Chromosomes

IV. Chromosomal Disorders

Down’s Syndrome: Down’s syndrome is an example of ____________________________, specifically chromosome 21.

In Down’s 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 Down’s syndrome include _________________, physically challenged, facial irregularities, and often heart defects.

nondisjunction of an autosome

extra copy

karyotype

mental retardation


Announcements 1 30

Section 14-2: Human Chromosomes

Incidence of Down’s Syndrome and mother’s age


Announcements 1 30

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.


Announcements 1 30

Section 14-2: Human Chromosomes

IV. Chromosomal Disorders

  • Klinefelter’s 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.


Announcements 1 30

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


Nondisjunction of sex chromosomes

Section 14-2: Human Chromosomes

Nondisjunction of Sex Chromosomes


Section 14 2 human chromosomes10

IV. Chromosomal Disorders

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.

Y chromosome

male sexual development

Section 14-2: Human Chromosomes


The end

The End 


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