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Human Genetics

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Human Genetics Chapter 12: Inheritance Patterns and Human Genetics Pedigrees Geneticists can study human genetic traits and trace genetic diseases from one generation ... – PowerPoint PPT presentation

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Title: Human Genetics


1
Human Genetics
  • Chapter 12 Inheritance Patterns and Human
    Genetics

2
Pedigrees
  • Geneticists can study human genetic traits and
    trace genetic diseases from one generation to the
    next by studying the phenotypes of family members
    in a pedigree.
  • A pedigree is a diagram that shows how a trait is
    inherited over several generations.

3
Pedigrees
4
Patterns of Inheritance
  • Biologists learn about genetic diseases by
    analyzing patterns of inheritance.
  • For Example
  • If a trait is autosomal, it will appear in both
    sexes equally. If a trait is sex-linked it is
    usually only seen in males. Most sex-linked
    traits are recessive.
  • If a trait is autosomal dominant, every
    individual with the trait will have a parent with
    the trait. If the trait is recessive, an
    individual with the trait can have one, two or
    neither parent exhibit the trait.

5
Pedigrees
  • Pedigrees can be analyzed to determine whether a
    trait is autosomal or sex-linked.
  • Pedigrees can be analyzed to determine whether a
    trait is dominant or recessive.
  • Individuals on a pedigree that have the allele
    but do not express the trait are known as
    carriers.

6
Genetic Traits and Disorders
  • Genes controlling human traits show many patterns
    of inheritance.
  • Some of these genes cause genetic disorders.
  • GENETIC DISORDERS are diseases or disabling
    conditions that have a genetic basis

7
Polygenic Inheritance
  • Most human characteristics (traits) are
    polygenic.
  • Polygenic characters (traits) are influenced by
    several genes.
  • Polygenic traits include height, nose length,
    size of foot, hair color, skin color, and eye
    color.

8
Complex Characters
  • Many human conditions are complex characters.
  • Complex characters (traits) are influenced
    strongly by both the environment and by genes.
  • Skin color and height are both polygenic and
    complex. Explain why.
  • Heart disease, diabetes, cancer are also thought
    to be complex.

9
Complex Characters
  • Biologists hope that by identifying environmental
    components that contribute to a disease, they can
    educate people in ways that minimize their risk
    of developing the disease.

10
Multiple Alleles
  • Many genes have more than two alleles. Genes with
    three or more alleles are said to have multiple
    alleles.
  • The ABO blood groups are governed by multiple
    alleles.

11
Codominance
  • Alleles that are codominant are expressed
    equally.
  • The IA and IB alleles in the ABO blood group gene
    are both codominant since they both produce a
    corresponding antigen (protein) on the surface of
    erythrocytes (red blood cells).

12
Incomplete Dominance
  • Sometimes an individual displays a trait that is
    intermediate between two parents, a condition
    known as incomplete dominance.
  • Example In Caucasians, the child of a
    straight-haired parent and a curly-haired parent
    would have wavy hair.

13
X-linked Traits
  • X-linked traits are carried on the X chromosome
    of the 23rd pair. This means that X-linked traits
    are carried on a sex chromosome.
  • Colorblindness, Hemophilia are both X-linked
    traits.

14
Sex-Influenced Traits
  • Sex-influenced traits are involved in other
    complex characters.
  • Males and females can show different phenotypes
    even when they share the same genotype.
  • Sex-influenced traits are usually autosomal.
  • For example, an allele that is dominant in males
    but recessive in females controls pattern
    baldness, the type of baldness usually found in
    men. The difference is due to higher levels of
    the hormone testosterone in men, which interacts
    with the genotype to produce pattern baldness.

15
Detecting Genetic Disease
  • Many people with a family history of genetic
    disease seek genetic screening before having
    children.
  • Genetic Screening is an examination of a persons
    genetic makeup. It may involve karyotypes, blood
    tests for certain proteins, or direct test of
    DNA.
  • Doctors can now also detect more than 200 genetic
    disorders in the fetus.

16
Amniocentesis
  • Performed between the 14th and 16th week of
    pregnancy.
  • Allows a physician to remove some amniotic fluid
    from the amnion, the sac that surrounds the
    fetus.
  • Geneticists can analyze fetal cells for genetic
    disease by examining chromosomes and proteins in
    the fluid.

17
Amniocentesis
18
Chorionic Villi Sampling (CVS)
  • Performed between the 8th and 10th week of
    pregnancy.
  • The physician takes a sample of the chorionic
    villi derived from the zygote that grow between
    the mothers uterus and the placenta.
  • Technicians analyze the cells, chromosomes and
    proteins to detect genetic disease.

19
Chorionic Villi Sampling (CVS)
20
Genetic Counseling
  • Many people with a family history of a genetic
    disease also undergo genetic counseling.
  • Genetic counseling is the process of informing a
    person or couple about their genetic makeup.
  • Genetic counseling is a form of medical guidance
    that informs individuals about problems that
    might affect their offspringl

21
Treating Genetic Disease
  • Physicians treat genetic diseases in several
    ways.
  • For some diseases, physicians can implement
    symptom-prevention measures. Example insulin
    injections for diabetes.
  • Physicians can even do some types of surgery to
    correct genetic defects in a fetus before birth.

22
Gene Therapy
  • Gene Therapy is a technique that replaces a
    defective gene with a healthy copy of the gene.
  • A virus is used to inject the gene into the
    cells. The gene functions until the cells die.
    Gene Therapy needs to be repeated.
  • Gene therapy, in which only body cells are
    altered, is called somatic cell gene therapy.
  • Germ-cell gene therapy is the attempt to alter
    sperm or eggs. This form of gene therapy is
    highly controversial.

23
Critical Thinking Review
  • A woman with cystic fibrosis marries a man who is
    heterozygous for cystic fibrosis. What is the
    likelihood (probability) that their children will
    have cystic fibrosis?
  • (Cystic fibrosis is autosomal recessive)
  • (Give yourself a key, determine the genotypes of
    parents, perform the cross)

24
Critical Thinking Review
  • Why is colorblindness less common among females?

25
ABO Blood Group
  • A man with blood type B marries a woman with
    blood type A. Their first child is blood type O.
    What is the probability their next child will be
    blood type AB? Blood Type B?

26
Analyzing a Pedigree
27
Analyzing a Pedigree
28
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