xCh 20 genetics W11
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Transcript xCh 20 genetics W11
Bio11 – Announcements
TODAY – Genetics
Test 2 AVG = 73 pts
Test scores posted
Next week’s lab: Case study
presentations
Extra credit due Thur Mar 3
15 pts available, see my website
Ch. 20 Patterns of Inheritance
How traits are passed from
generation to generation
Human Chromosomes
46 chromosomes in
pairs
22 pairs of matching
chromosomes
Plus 1 pair of sex
chromosomes
XX or XY
This is a human karyotype
Male or female?
DNA packing in chromosomes
Chromosomes contain
DNA and protein
The long strands of
DNA are condensed
The DNA is packed into
an elaborate, multilevel
system of coiling and
folding.
Chromosomes and genes
Each chromosome
contains one very long
DNA molecule
Typically bears thousands
of genes
Genes carry our traits
Genes are segments of
DNA
What is heredity?
Heredity – passing traits
from parent to offspring
The genes for certain traits are
passed down in families from
parents to children.
For example,
parents with black hair will have
kids with black hair
Tall parents will have tall kids
Genetics 101: Where do your genes come from? (4:14)
http://www.youtube.com/watch?v=lJzZ7p-47P8&NR=1
Genes carry our traits
Genes
found at specific locations on a chromosome
Alleles are different versions of a gene
Genotype and phenotype
Genotype – an individual’s
genes
Gene “F” codes for freckles
Phenotype – what an
individual looks like
F
F
Genotype and phenotype
What is her genotype?
The gene for freckles has 2 alleles
The dominant allele F codes for freckles
The recessive allele f does not
She has two copies of each
chromosome
Possible genotypes: FF or Ff
F
F
F
f
Examples of traits controlled
by a single gene in humans
These 3 traits are
determined by simple
dominant-recessive
inheritance
Possible genotypes for
someone with
freckles? FF and Ff
Without freckles? ff
More about alleles
They are alternative
versions of the same
gene
The gene for hairline has
2 alleles
P for Widow’s peak
p for straight hairline
Widow’s peak
Straight hairline
More about alleles
For each trait, we inherit two
alleles, one from each
parent.
The alleles can be the same or
different
If they are different, the
organism is heterozygous – Pp
If they are the same, the
organism is homozygous for
that gene – PP, pp, YY
Widow’s peak
Straight hairline
More about alleles
Alleles can be dominant
or recessive.
The dominant allele
determines the
organism’s appearance
Phenotypes:
Use upper case: P
The recessive allele has
no noticeable effect
Use lower case: p
Genotypes?
PP or Pp
pp
Inheriting a trait
If a man with short fingers marries a woman
with long fingers, what genotypes and
phenotypes will their children have?
Dad
Dominant trait
SS or Ss
Mom
Recessive trait
ss
Forming the gametes
Gametes carry only one allele for each
inherited characteristic.
Dad
S
S
S
S
meiosis
Genotype = SS
S
Gametes only carry
one copy of each
chromosome
Forming the gametes
Gametes carry only one allele for each
inherited characteristic.
Mom
s
s
s
meiosis
Genotype = ss
Fertilization
When sperm and egg unite at fertilization,
each contributes its allele.
S
s
Fertilized egg
S
s
Genotype = Ss
Phenotype?
Forming the gametes
What if dad is Ss?
Dad
S
S
s
s
meiosis
Genotype = Ss
S
Then after fertilization …
Dad
S
Gametes:
Fertilized egg:
genotype?
phenotype?
Mom
s
S or s
Ss or ss
s
s
All s
Crosses (one-trait inheritance)
If neither parent has freckles, what will
be the genotype of their offspring?
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Parents
no freckles
no freckles
ff
ff
meiosis
gametes
Offspring
f
Offspring
f
ffff
no freckles
Crosses (more complicated)
If both parents are heterozygous for
freckles, what will be the genotype of
their offspring?
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Parents
no freckles
Freckles
Ff
ff
no freckles
Freckles
ffFf
meiosis
gametes
f
Gametes?
f
Gametes?
Offspring
ff
no freckles
Punnett square analysis
Used to predict the genotypes of the offspring
#1 Decide what gametes would be produced by each parent.
F
Genotype? Gametes?
Mom
Ff
F
f
F
Dad
Ff
F
f
f
f
Punnett square analysis
What are the genotypes of the offspring of two
heterozygous freckled parents (Ff)?
F
F
f
FF
Ff
Ratio: 1FF, 2 Ff, 1 ff
f
Ff
ff
What are the phenotypes?
Human Disorders Controlled
by a Single Gene
Recessive disorders
Most human genetic
disorders are recessive.
Albinism
Albino alligator
lack of melanin pigment in
the eyes, skin and hair
affects mammals (including
humans), fish, birds, reptiles
and amphibians
Recessive disorders
Cystic fibrosis
Most common lethal
genetic disease in US
Symptoms: excessive
secretion of a very thick
mucus which interferes
with breathing
Symptoms usually
appear shortly after birth.
Dominant Disorders
Some human genetic
disorders are dominant.
Achondroplasia is a
common form of
dwarfism.
Cause: abnormal bone
and cartilage formation
Huntington’s disease:
a dominant genetic disorder
Caused by a dominant
allele–every individual who
carries the allele gets the
disorder
Fatal: causes progressive
deterioration of the brain
Late age of onset: most
people do not know they
are affected until they are
more than 30 years old
Many neurons in
normal brain.
Loss of neurons in
Huntington brain.
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Some traits are controlled by
multiple genes
At least 180 genes
control how tall a
person will grow
Beyond simple inheritance
Incomplete Dominance
The heterozygotes have an
intermediate phenotype
appearance is between the phenotypes of
the two parents.
Alleles are not fully dominant or fully
recessive
Incomplete Dominance:
Hypercholesterolemia
Characterized by dangerously high levels of
cholesterol in the blood
Multiple Alleles:
ABO blood groups
Three alleles for the
same gene
IA = A antigen on RBC
IB = B antigen on RBC
i = neither A or B antigen
The IA and IB alleles
exhibit codominance.
Both alleles are
expressed in the
heterozygote.
Sex-linked genes
Genes located on a sex
chromosome, usually
the X chromosome.
Their pattern of
inheritance reflects the
fact that females have
two X chromosomes,
but males have only
one.
Sex-Linked Disorders in
Humans
Sex-linked disorders
due to recessive alleles
seen mostly in males
Example
Red-green color
blindness
characterized by a
malfunction of lightsensitive cells in the
eyes.
Inheritance of colorblindness
An X-linked, recessive disorder
XB = normal vision
Xb = color blindness
Write the following genotypes
Normal man
Color-blind man
Normal woman
Woman carrier
Inheritance of colorblindness
A man with normal vision and a woman
carrier have children. What is the
chance that the couple will have a colorblind daughter? A color-blind son?
Man’s genotype
Man’s gametes
Woman’s genotype
Woman’s gametes
Inheritance of colorblindness
Set up a Punnett square
XB
Xb
Mom = XB , Xb
Dad = XB , Y
XB
Y
Possible genotypes and
phenotypes of
Sons?
Daughters?
Sex-linked disorders:
Duchenne muscular dystrophy
X-linked recessive disorder
Symptoms: Wasting away of
the muscles
Eventually confined to
wheelchair
Death by age 20
Due to absence of protein
involved in release of Ca
from ER in muscles
Sex-linked disorders:
Hemophilia
Hemophilia: an X-linked, recessive trait
Two genes that encode blood-clotting
proteins are on the X chromosome
Any male (XY) who inherits the mutant gene
will develop hemophilia
Rare: occurs in 1/10,000 Caucasian males
Family pedigrees
Used to find out if a particular
human trait is inherited
geneticists can’t control the
mating of their subjects, so they
analyze the results of matings
that have already occurred
Assemble info into a family tree
represent males,
females
Colored symbols = person has
trait being studied
Practice problems
Prepare for the quiz on Thur
Questions at end of Chapter 20:
#1, 3, 7, 11, 13, 15, 16, 19, 20, 26, 27
and 30