Single-Gene Inheritance

Patterns
Chapter 2
1/31/17
Autosomal vs sex-linked
genes
 Sex linked Single-Gene
Inheritance
Many plants and animals also have
sex chromosome
They segregate equally but the
phenotypic ratios in progeny are often
different

Homogametic sex - females

Heterogametic sex males
Dioecious species
Hemizygous
Sex-linked (X and Y linkage)
Pseudoautosomal regions 1 & 2
Human sex chromosomes
An example of X-linked
inheritance

Drosophila
melanogaster
 Lets practice sex-linked
inheritance Punnett Squares
W
X X W W
xX Y w w
X X xX Y W XWXw x XwY

XWXw x XWY
Key Concept: Sex-linked
inheritance regularly shows
different phenotypic ratios in the
two sexes of progeny, as well as
different ratios in reciprocal
crosses
Pedigrees and Calculating
Risks
Pedigree chart - a document to record ancestry

Pedigree analysis a study of record of matings

 Human Pedigree Analysis
Human matings provide many
examples of single-gene inheritance
Why cant we do controlled experiments
on humans?
Use pedigree analysis
Propositus first family member
that draws the attention of the
geneticists
Pedigree symbols
Autosomal recessive
disorders
Homozygous recessives from
inbreeding
 Male infertility (USP9Y) Y-
linked. (Dominant or
Recessive?)
Hemophilia (F8) X linked
Early-onset
recessive.
Parkinsons
disease
(PARK7)
autosomal
recessive

Breast Cancer
(BRCA2)
Autosomal
 Inheritance of an autosomal
dominant disorder

Pseudoachondroplasia - a type of dwarfism , d/d is normal stature

and D/d are dwarf. It is believed that D/D is such a severe effect that
the genotype is lethal (dominant homosygous lethal)
Huntingtons disease - neural degeneration, leading to convulsions
and premature death
 Polydactyly
Autosomal dominant disorder

Does anyone see the irregularity in this chart?

AKA which mother/father/child combo does

not match with an autosomal dominant
 Sex linked Single-Gene
Inheritance
X- linked recessive disorders
More males than females show the rare
phenotype
Why?

Y-linked Inheritance
Only males inherit genes in the differential region
of the human Y chromosome
Why?
Inheritance of an X-linked
recessive disorder
Inheritance of an X-linked
dominant disorder
 Calculating the Risk
Aa Aa Aa Aa

A- AA AA A-
2/3 he is 2/3 she is
a carrier A- a carrier
A-
1/3 he is 1/3 she is
a carrier a carrier

1/4 that both parents would

pass on the recessive allele
1/3 X 1/3 X 1/4 =1/36
chance the child will be
What is the chance the female
with the arrow is a carrier?
 Calculating risks in pedigree
analysis word problem:
A couple discovers that they both had
an uncle who died of Tay-Sachs
disease. What is their
chance of producing a child with Tay-
Sachs?

What to do first?
Make a pedigree and label
what you know
Calculate the percentages
Practice Problems to do on
your own
A scientist is very interested in the SRY gene
in humans, which is involved in male sex
determination and which is never found on X
chromosomes (i.e., this gene occurs in the
differential region of the Y chromosome).
SRY is an example of a _______________ gene.
a) Heterozygous
b) Homozygous
c) Null
d) Hemizygous
7. An allele of a gene of interest is best
described as
 Refer to the following pedigree to answer
the next four questions. The pedigree
illustrated here shows individual II-2 affected
with a disease that is inherited in an
autosomal recessive pattern (with full
penetrance). Let A represent the dominant
allele and let a represent the recessive
allele.
The genotype of I-1 must be

a) AA.
b) Aa.
c) aa.
d) Insufficient data.
The genotype of II-1 must be

a) AA or Aa.
b) AA or aa.
c) Aa or aa.
d) AA, Aa, or aa.
What is the probability that if parents I-1 and
I-2 had another (fourth) child, he or she
would not have the disease?
a) 3/4
b) 2/3
c) 1/2
d) 1/3
 What is the probability that II-3 is
heterozygous for the dominant and
recessive alleles?

a) 3/4
b) 2/3
c) 1/2
d) 1/3
 Practice
problems.wahoooooo!
What is the chance the boy will have the
condition?

?
What is this pedigree and
example of?

A.Autosomal dominant
B.autosomal recessive
C.X-linked dominant
D.X-linked recessive
What is this pedigree and
example of?
 Punnett Square to Practice
RR x rr Rr x Rr

Rr x rr RR x Rr
Below is the pedigree of a family
where some individuals are affected
with a mild condition of the skin.

a) Based on the pedigree, what is the most likely

mode of inheritance of this condition, and why?

b) Indicate the respective genotypes of each

individual represented.

c) What is the probability that individuals 1 and 2

will have an affected daughter?
 Name major differences
between mitosis and meiosis
1.
2.
3.
4.
5.
6.