Patterns of Inheritance

The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders

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The Language of Genetics

A. Gregor Mendel
B. The Rules of Chance

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A. History

1. The blending hypothesis of

the 1800’s was discarded
2. Gregor Mendel the “father”
of genetics
a. believed that
distinct factors (genes)
were responsible for
inheritance_
 b. conducted breeding
experiments on pea
plants_

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 3. Genetics- the study of how
traits are passed from
parents to offspring_

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B. The Rules of Chance

1. Gene- a portion of the

chromosome that controls a
trait (flower color)
2. Allele- different versions
of a gene (P or p)
a. genotype- genetic
composition (PP
or Pp or pp)
b. phenotype- physical
appearance (purple
or white) _
 3. True-breed- an organism that
always passes on its
characteristics
a. homozygous- two of
the same alleles for
the same trait
(PP- purple or pp- white)
4. Hybrid- an organism that has
two different alleles for
the same trait
a. heterozygous- two
different alleles for
the same trait
(Pp- purple)_

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5. Dominant- in a hybrid, the
allele that is expressed
(P- purple)
6. Recessive- in a hybrid, the
allele that is not
expressed (p- white)
7. P Generation- parents
(PP x pp)
8. F1Generation- children
(4/4 Pp)
9. F2 Generation- grandchildren
(1/4 PP, 2/4 Pp, 1/4 pp)_
THE END
Punnett Squares

A. Mendel’s Laws
B. Monohybrid Cross
C. Dihybrid Cross

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A. Mendel’s Laws

1. Individual units, called

genes, determine biological
characteristics
2. For each gene, an organism
receives one allele from
each parent
a. alleles separate
from each other
(segregation)
b. forming sex cells_
3. If an organism inherits
different alleles for the
same trait, one allele is
dominant over the other
4. Some genes separate, or
segregate independently_
B. Monohybrid Cross

1. A monohybrid cross results

from crossing two organisms
that differ in one
characteristic
a. identify the
dominant and recessive
alleles
b. determine the
genotype of each parent
and possible gametes
c. set up a Punnett
square and cross_
 d. list the genotypes
and phenotypes of the
offspring in each box
e. determine the
solution to the
problem_
 C. Dihybrid Cross

1. A dihybrid cross results

from crossing organisms
that differ in two
characteristics_

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 a. seed color and shape
b. a cross between two
hybrids results in a
9:3:3:1 ratio_

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THE END
Inheritance Patterns

A. Incomplete Dominance
B. Multiple Alleles
C. Polygenic Inheritance
D. Environmental Influences
E. Sex-linked Traits
 A. Incomplete Dominance

1. Incomplete dominance is when

neither gene is totally
dominant_

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2. Produces an intermediate
phenotype_
 B. Multiple Alleles

1. There are 4 blood types, A, B,

AB, and O
Type A AA or Ao
Type B BB or Bo
Type AB AB
Type O oo
2. The gene for o is recessive
to A and B
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” 3. A and B are codominant_
 4. Mixing blood types can
result in blood clotting_

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 C. Polygenic Inheritance

1. Polygenic inheritance is
when more than one gene
affects a single trait
a. height and skin
color_

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2. Produces a broad range of
phenotypes_
D. Environmental Influences

1. The environment can affect

an individuals phenotype
a. height and weight,
coloring, blood count_

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 E. Sex-linked Traits

1. Sex chromosomes carry genes

for traits
a. some genes are
located on the X
chromosomes (females
have 2 genes)
b. males have only 1
gene for each of these
traits_
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2. Thomas Hunt Morgan
discovered sex-linked
traits (eye color) in fruit
flies_
 2. Thomas Hunt Morgan
discovered sex-linked
traits (eye color) in fruit
flies_

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F. Sex-Influenced Traits

1. Calico fur (females only) is

produced by an inactive X
chromosome
a.) Process of
silencing X chromosome is
called lyonization
b.) X chromosome
becomes a dense
heterochromatin barr body_
2. Male pattern baldness is
influenced by hormones
coded for on the Y
chromosome_
3. Ragged-red syndrome
a.) coded for in
mitochondrial DNA
b.) passed through
maternal lines_
 G. Linked Genes

1. Genes on the same

chromosome are inherited as
a set unless crossing over
occurs

2.The percentage of crossing

over observed is equal to
the distance the two genes
are apart in map units or
centimorgans
3.
Genes Crossing Over % 4.Flower color and pollen shape
A - B = 12% in pea plants_
A - C = 2%
B - C = 14%
A - E = 7%
E - D = 19%
C - D = 10%
D - B = 24% _
Genes Crossing Over %
A - B = 12%
A - C = 2%
B - C = 14%
A - E = 7%
E - D = 19%
C - D = 10%
D - B = 24% _
H. Epistasis

1.One gene affects the

expression of another
2.
3.Ex. Albinism affects hair
color_
I. Lethal Alleles

1.A combination of alleles

leads to early death
2.
3.Ex. Tay-Sachs (recessive)
4.
5.Brachydactyly (dominant)_
THE END
Human Pedigrees & Disorders

A. Mutations / Chromosomal
Accidents
B. Pedigrees
C. Rec/Dom Trait Disorders
D. Sex-linked Disorders

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A. Mutations/ Chromosomal
Accidents

1. A mutation is any change in

the nucleotide sequence of
DNA
2. The most common types are
base substitution,
insertion, or deletion
a. The dog and cat are
fun.
b. The dog and bat are
fun.
(point mutation)
c. The dop gan dca tar
efu n
(frameshift
mutation)_
3. Nondisjunction results
when chromosomes separate
incorrectly in germ cells
(as opposed to somatic
cells)
a. results in monosomy
or trisomy_
 b. occurs in sex
chromosomes
1) Klinefelter -
XXY
2) Turner – X_

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 c. and in autosomes
1) Down syndrome_

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 2) Down syndrome
results from an extra
chromosome 21
3) occurs in about
1 in 700 births_

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4. Changes in chromosome
structure can also lead to
disorders
a.) Deletion of part of
5thchromosome leads to Cri
du chat syndrome
b.) characterized by
microcephaly (small head)
and cat-like cry_
5. Transposons (jumping genes)
(similar to restriction
enzymes)
a. Class I
retrotransposons-
Transcribe to RNA then
reverse transcribe back to
DNA
b. Class II transposons
–
“cut and paste” DNA_
 B. Pedigrees

1. Pedigrees record and trace

the occurrence of traits in
a family
a. male (square)
b. female (circle)
c. parents (horizontal)
d. children (vertical)
e. affected (shaded)_
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 C. Rec/Dom Trait Disorders

1. If two unaffected parents

have an affected child, the
trait is recessive
a. cystic fibrosis- a
very serious breathing
problem
b. tay-sachs
c. pku_

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 d. sickle cell anemia-
red blood cells are
shaped like sickles
1) suffer pain,
organ damage, even
death_

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2. If two affected parents
produce a normal child the
disorder must be dominant
a. achondroplasia
(dwarfism)
b. polydactylism (6
fingers)
c. Marfan’s Syndrome
d. Huntington’s disease_
D. Sex-linked Disorders

1. Sex-linked disorders result

from genes that are located
on the X chromosome
 D. Sex-linked Disorders

1. Sex-linked disorders result

from genes that are located
on the X chromosome
a. hemophilia
b. color blindness_

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THE END