ch. 14 the human genome
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Ch. 14 Outline 14-1: Human Heredity Human Chromosomes Human Traits Human Genes From Gene to MoleculeTRANSCRIPT
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Ch. 14 The Human Genome
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Ch. 14 Outline
14-1: Human Heredity Human Chromosomes Human Traits Human Genes From Gene to Molecule
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Ch. 14 Outline
14-2: Human Chromosomes Human Genes and Chromosomes Sex-linked Genes X-Chromosome Inactivation Chromosomal Disorders
14-3: Human Molecular Genetics Human DNA Analysis The Human Genome Project Gene Therapy Ethical Issues in Human Genetics
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Human Chromosomes
Karyotypes: A picture of chromosomes arranged by
homologous pairs Humans have 23 pairs (46 total) chromosomes. Two of the 46 chromosomes are called sex
chromosome because they determine and individual’s sex. In Human’s:
Female – Male –
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Human Chromsomes
Autosomes: the remaining 44 chromosomes. They do not determine the sex of the organism.
All Human egg cells carry a single X chromosome.
Half of all sperm cells carry an X chromosome and half carry the Y. This is why the ratio of males to females
is 50/50.
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Human Traits
Scientists use a pedigree chart to help study how a trait is passed from one generation to the next. Pedigree: chart that shows the
relationships within a family.
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How to read a pedigree
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 completely shaded circle or square indicates that a person expresses 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.
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Pedigrees
These Charts are used to infer the genotypes of family members. They can reveal if traits are sex-linked, dominant or recessive.
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Human Genes
Blood Group Genes Knowing a person’s blood group is
important during transfusions. Two blood groups:
Rh groups ABO groups
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The Rh Blood Group
The Rh blood group is determined by a single gene with two alleles: Positive and negative Rh+ is dominant to Rh-
The Rh factor is named after the Rhesus Monkey where the factor was first isolated
Very important for females to know during pregnancies.
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ABO Blood Groups
There are three alleles for the ABO Blood Group: IA, IB, I
“i” is the recessive allele. ii type O blood
IAIB are codominant type AB blood IAIA or IAi type A Blood IBIB or IBi type B Blood
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ABO Blood Groups
Phenotype(Blood Type Genotype
Antigen on Red Blood Cell
Safe Transfusions
To From
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Antigens and Blood
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Disorders in Humans
Genetic Disorders may be caused by: Recessive Alleles
Ex. CF, PKU, Tay-Sachs Dominant Alleles
Huntington’s Disease Codominant Alleles
Sickle Cell Anemia
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Concept Map
caused by
includeincludeinclude
AutosomolDisorders
Recessive alleles
Dominant alleles Codominant alleles
Albinism Galactosemia Tay-Sachs disease
Huntington’s disease
Sickle cell disease
Cystic fibrosis
Phenylketonuria Achondroplasia Hypercholes-terolemia
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Sex-Linked Genes
Sex-linked genes: Genes Located on the sex chromosomes Many genes are located on the X
chromosome Sex-linked disorders are caused by
genes on the X or Y chromosome Colorblindness, Hemophilia
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X-Chromosome Inactivation
Females have two X chromosomes but males only have one. How do females cells “adjust” to having an extra X if males can survive with just one? One of the X chromosomes in female cells
are randomly switched off. Those are called Barr bodies.
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Chromosomal Disorders
Nondisjunction: failure of chromosomes to separate correctly in meiosis This leads to an abnormal number of
chromosomes in gametes Ex: Down Syndrome (3 copies of
chromosome 21 “trisomy”)
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Nondisjunction
Homologous chromosomes fail to separate
Meiosis I:Nondisjunction
Meiosis II
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The Human Genome Project
A research project to sequence (identify in order) all the bases in Human DNA ~3.2 BILLION pairs!
Some discoveries: A large amount of DNA does not code for
proteins Humans only have 30,000-40,000 genes
(scientists expected 100,000)
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The Human Genome Project Website http://www.genome.gov/ Really interesting Information about the
Human Genome Project. It might help you understand stuff better.
EDUCATE YOURSELF!
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Gene Therapy
Information about the human genome might be used to cure genetic disorders though the use of gene therapy.
Gene therapy: the process of changing a gene that causes a genetic disorder It replaces the faulty gene with a normal,
working gene
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Ethical Issues
If Human cells can be manipulated to cure disease, should biologists try to engineer people with specific traits?
What will happen to the human species if we design our own bodies?
Should we clone humans?