Patterns of Inheritance

aka Genetics
Parents pass
heritable traits to
offspring (genes)
Gregor Mendel
1860s, Austrian monk
experimented with
garden peas
tracked traits from
parents to subsequent
generations
Cross fertilization
Pollen from one plant to
fertilize another plant
P = Parents
F
1
= 1
st
generation of
offspring
Hybrid (cross) = offspring
of two different varieties
e.g. purple vs. white
flowers


How?
Mendel tracked 7
characteristics
Each had two distinct
forms
Controlled
Started with pure
varieties

Monohybrid cross
Differs by one
characteristic
No blending (pink)
What happened to
the white?
Showed up in F
2

Mendels 4 hypotheses
1. Alternate versions of each gene = alleles
(Purple or White)
2. Offspring inherit 2 alleles, 1 from each parent
for each characteristic (color)
Homozygous = each allele is the same (PP or pp)
Heterozygous = different alleles (Pp)
3. Dominant = determines appearance, and
Recessive = not apparent
4. Gametes (sperm or egg) carry only one allele
as a result of pair separation during meiosis =
Law of segregation


Pure parent plants
All purple (PP)
All white (pp)
Gametes will be either
P or p
F
1
are all purple because
of dominance (Pp)
F
2
results in a
mathematically predictable
3:1 ratio
Phenotype = expressed
traits
Genotype = genetic
makeup
Punnett square
Hybrid posibilities

Alleles of a gene reside at the same locus
on homologous chromosomes
Separated by independent assortment in
meiosisultimately within separate gametes
What happens if there are 2 characteristics?
Are they packaged
together? Or,
independently from one
another?
Seed characteristics
(alleles)
Round (R) or wrinkled (r)
Yellow (Y) or green (y)
Hypothesis: They are
packaged together.
Hypothesis: Each pair of alleles are independent of one another
F
1
produces equal amounts
of 4 possible genotypes
F
2
reveals even more
genotypic possibilities
(9:3:3:1)
Dihybrid cross is equivalent
to two monohybrid crosses
(12:4 or 3:1)

Law of independent
assortment
Black coat is dominant
(B)
Chocolate coat is
recessive (b)
Normal vision (N) vs.
blind (n)
What are the results of
a dihybrid cross of
heterozygous parents
(black, normal vision) ?

*progressive retinal atrophy (PRA)
causes blindness
Phenotype of heterozygous
parents?


Genotype of heterozygous
parents?


Gamete possibilities
Sperm?
Eggs?
Black coat is dominant
(B)
Chocolate coat is
recessive (b)
Normal vision (N) vs.
blind (n)
What are the results of
a dihybrid cross of
heterozygous parents
(black, normal vision) ?
Phenotype of heterozygous
parents?
black, normal vision

Genotype of heterozygous
parents?
BbNn x BbNn

Gamete possibilities
Sperm: BN, bN, Bn, bn
Eggs: BN, bN, Bn, bn
Sperm: BN, bN, Bn, bn
Eggs: BN, bN, Bn, bn

What is the
genotypic ratio of the
offspring?
What is the
phenotypic ratio of
the offspring?
BN
bn
Bn
bN
BN
bN Bn bn
Sperm: BN, bN, Bn, bn
Eggs: BN, bN, Bn, bn

9 3




3 1




BN
bn
Bn
bN
BN
bN Bn bn
BNBN BNbN BNBn BNbn
bNBN bNbN bNBn bNbn
BnBN BnbN BnBn Bnbn
bnBN bnbN bnBn bnbn
Can you know the
genotype by looking at
the phenotype?


What are their
genotype possibilities?

Can you know the
genotype by looking at
the phenotype?


What are their
genotype possibilities?

bb




BB or
Bb
Testcross
Perform a testcross to
determine an
unknown genotype

Mate an unknown
genotype (black lab)
X
homozygous recessive
(chocolate lab)
Some examples of dominant and recessive
traits in humans (at one gene locus)
Class total
Bent pinky dominant (BB or Bb)
Blue eyes recessive (ee)
No mid-digital hair recessive (mm)
Tongue rolling dominant (RR or Rr)
Widows Peak dominant (WW or Ww)
Right over left Thumb recessive (cc)
Attached ear lobes recessive (aa)
Hitchhikers thumb recessive (hh)
How do we determine inheritance
of human traits?
Cant Testcross
Pedigree family tree
of genetic history
E.g. tracking deafness
(dd) in an isolated
family
Since deafness
appeared in F1 of
grandparentscarriers
Abigail? John? Hepzibah?


Other single gene disorders
Recessive
Albinism
Cystic fibrosis
Thick mucous excretion of
lungs and other organs;
requires life long treatment
Sickle cell anemia



Probability increases with
less variability
(inbreeding)
Dominant
Extra fingers, toes
Webbed fingers, toes
Dwarfism
Normal body; short arms
and legs
DD die, Dd survive, non-
dwarfs (99.99% pop.) are
dd

Dominant lethal disorders
less common; usually kill
embryo

David Rappaport
Identifying disorders:
Amniocentesis is sampling of amniotic fluid
Chorionic villus sampling (CVS) of placental tissue
Ultrasound
Traits that dont conform to Mendels laws
Incomplete dominance
E.g. snapdragons
Heterozygotes differ from
homozygotes
Predictable 1:2:1 ratio
Different than blending
hypothesis
No testcross necessary

More than two alleles per gene
3 alleles in blood type OAB
4 possible phenotypes = O, A, B, AB
6 possible genotypes; co-dominance
Rh factor = + and - along with O, B, A
Rhesus incompatibility disease
30 combinations; much more complicated
O- was considered universal donor; but
new research shows not always the case
Pleiotropy
Gene influences
multiple
characteristics
Polygenic Inheritance
Additive effects of
multiple genes on a
single phenotypic
characteristic

Sex-linked genes
X-linked recessive
alleles
More common in
males than females
Males only needs to
inherit one sex-linked
recessive allele from
mom to be expressed
Females has to inherit
two sex-linked
recessive alleles for
expression
Examples
Red-green color
blindness





Hemophilia