Extending Mendelian Genetics

Incomplete dominance
Codominance
Multiple alleles
Lethal alleles
Gene Interaction
Polygenic inheritance
or quantitative trait

Pleiotropy
Effect of environment
Linkage
Sex-linked traits

Alleles and Symbols

A __________; a ______________
+ ; a+ - _________, a mutant
Leu+, leu- ; leu+ is wild type
Gene: Gal; gal
Protein coded:GAL1, GAL2, etc

Modifications of Dominant
Relationships

Incomplete Dominance
Snapdragons:
AA - red; aa white
Aa pink
P: __________________
F1: _________________
Neither allele is dominant

Coat Color in Horses

CC light chestnut (sorrel)
CCcr yellow or cream (palomino)
CcrCcr very light (cremello)

Plumage Color In Chicken

P: black x white
F1: bluish grey (Andalusian blues)
F2: 1 black : 3 blue : 1 white
CB CB black, ______________________
CW CW white
CB CW __________________________

Pigmentation in Birds and Mammals

PIGMENTATION in birds and mammals is based on the
synthesis of two different types of melanin, brown/black
eumelanin and yellow/red pheomelanin.
Tyrosinase is the rate-limiting enzyme of melanin biosynthesis,
which takes place in melanosomes within melanocytes.
Tyrosinase and the tyrosinase-related proteins Tyrp1 and Tyrp2
(Dct) are involved in the production of eumelanin.
________________ is associated with synthesis of eumelanin
whereas _______________ results in the production of
pheomelanin.
The spherical pheomelanin premelanosomes are less organized
than the rod-shaped eumelanin premelanosomes and contain
less melanin

Intermediate Level of Gene

Expression
Tay-Sachs disease fatal lipid-storage
disorder (lipid accumulates in lysosomes in brain
cells, eventually killing the brain cells)

TT _____________________________
tt _______________________________
Tt - ?

Codominance
Heterozygote exhibits the phenotypes
of both homozygotes

Codominance
Products of ______________________________; clearly detected for
biochemical phenotypes
Biochemical phenotype - a phenotype that is revealed by biochemical
experimentation; examples are
DNA markers (RFLPs);
protein markers (isozymes);
quantity of a metabolite;
immunological reaction
MN blood group; autosomal locus, Chr4
Glycoprotein M; glycoprotein N
_____________________________________

Codominance

Genotypes can also be assigned to DNA fragments

A1 = 3.0 kb fragment; A2 = 2.0 kb fragment
Parent 1 = A1A1
Parent 2 = A2A2.
F1 = A1A2 (heterozygous).
F2 generation will segregate 1 A1A1:2 A1A2:1 A2A2

Multiple Alleles
Can be more than two variants of a gene
Each diploid organism can only have two
alleles present

Multiple alleles: white Locus in

Drosophila
The recessive eye mutation
Discovered by Thomas Morgan and Calvin
Bridges in 1912
More than 100 alleles: allelic series
Red w+>wa>we>wt > w, white

Test for Allelism: Complementation

Analysis
To find if a mutation is coded by an allele of
a gene or by another gene:
Cross with
____________________________________
If F1 is wild type _____________________
If F1 is mutant phenotype
__________________________________

Coat Color In Rabbits

cc white over the entire body or albino

chch himalayan, black hair on extremities
cchcch chinchilla,white hair with black tips
c+c+ - wild type, colored hair
c for
________________________________

Coat Color In Rabbits

c+ > cch >ch > ca;
P: c+cch x cchca full color x himalayan
c+
cch
ca

cch

Multiple Alleles Blood Groups

There are four different blood groups: O, A, B, AB
The ABO Blood group alleles: IA, IB, IO or i
Genotypes:

Antigens

Copyright2002PearsonEducation,Inc.,publishingasBenjaminCummings

ABO Blood Groups: biochemical

basis
Cell membrane proteins, _________________
H substance plus fucose plus one more sugar added
(galactose or N-acetylgalactosamine)
IA codes for enzyme (glycosyltransferase) responsible
for adding N-acetylgalactosamine (AcGALNH)
____________________
IB codes for enzyme that can add galactose, but not
AcGALNH ____________________
Allele i no enzymes, no added sugars
IAIB -?

ABO Blood Groups: biochemical

basis

The Bombay Phenotype

A x AB parents
Woman O
Children AB, A, B

The Bombay Phenotype

Genetically B, functionally O
Homozygous for fut1/fut1 no
fucosyltransferase,
________________________________
Not recognised by glycosyltransferase, no
sugar added, ____________________
Actually two genes system

ABO blood groups and paternity

testing
For example, child with blood type O must
be genotype i/i.
The parents could be___________
However, they could not be__________
May be used to suggest paternity,
additional analyses are often needed

Lethal Alleles
Determine conditions that are lethal,
usually in homozygous state

Lethal Alleles
1904, Lucien Cuenot color of mice
Yellow mice x wild type ; F1 1:1
Yellow mice x yellow mice
F1 ___________________________

Lethal Alleles
Loss of function can survive as Aa, but
not aa homozygous recessive lethal
In mice:AA agouti; AAY yellow
AAY x AAY
A
A
AY

AY

Figure 4-4

Copyright 2006 Pearson Prentice Hall, Inc.

Why Some Alleles Are Dominant

and Some Recessive?
Abnormal protein leads to abnormal cell
form and function
_________________________
Other mutations may lead to
gain of function;
inhibit, antagonize or limit activity of wild-type
allele

Yellow Coat Color In Mice Molecular

Analysis
A gene (Agouti)
Merc gene coding
region

Regulatory

coding region

Deletion (AY)

Merc critical in embryonic development

Manx Mutation In Cats

Dominant Lethal Genes

Spontaneous dominant mutation

normal height _________________

Dwarfs _______________________
AA _____________________________
affects less than 200,000 people in the US
population

Huntington Disease
Chromosome 4
Mutation of the gene causes Huntington
chorea, dominant,
____________________________
(1:10,000)
_________ of the gene Wolf-Hirschhorn
syndrome, carriers die young

Pleiotropy
Multiple effects of one gene

Pleiotropy
One gene multiple phenotypic effects
Sickle cell anemia
________________________________________

Marfan syndrome

Marfan Syndrome
Marfan's syndrome is a genetic (inherited) disorder
that affects the body's connective tissue.
Connective tissue is the tough, fibrous, elastic
tissue that connects one part of the body with
another. It is a major part of tendons, ligaments,
bones, cartilage and the walls of large blood
vessels.
In Marfan's syndrome, the body can't produce
enough _____________ an important building
block of connective tissue

Marfan Syndrome
The problem in Marfan's syndrome is
caused by a _______________________.
In many families with inherited Marfan's
syndrome, the mutation affects the FBN1
gene on ________________, although a
second gene on chromosome 5 may be
involved in some cases.

Sickle Cell Anemia

Disease caused by
__________________________ in the
sequence of DNA coding a hemoglobin
protein
Leads to
____________________________
Abnormal cell form
Abnormal RBC function