Pedigree Analysis

GENETIC
DISORDER
P
A genetic disorder is a
disease that is caused
by a change, or
mutation, in
P an
individual’s DNA
sequence.
PEDIGREE
ANALYSIS
P
 PEDIGREE
A graphic
representation of
how a trait is
passed from
P

parents to
offspring.
Pedigree symbols

Female
Male

Gender
unknown
Deceased
 Affected individual

 Proband
• 1st person in family to
come to medical/genetic
attention

 Obligate carrier

 Infertility
Constructing the Pedigree
 Relationship or
marriage
 Break in
relationship

 Consanguineous
relationship
  Include below
I. gender symbol
name, maiden name
John Smith
if married &
10-1-49 birthdate or age
 Generations are
symbolized by
Roman numerals
Current date:  Should give current
08-31-06 date on pedigree
  Siblings are
I. drawn left to
right in birth
order
II.

III.
 PATTERNS OF INHERITANCE
 Autosomal Dominant
Inheritance
 Autosomal Recessive
Inheritance
 X-Linked Inheritance
 Y-Linked Inheritance
 VOCABULARY
AUTOSOMAL-means that a specific
gene is not on a sex chromosome and
is a numbered chromosome.
DOMINANT-is used to describe an
allele, a gene, or a trait that is
expressed.
RECESSIVE-is a gene whose effects
are masked in the presence of a
dominant gene.
 VOCABULARY
 HOMOZYGOUS-The presence of
two identical alleles at a particular
gene locus.
Ex. CC, TT, WW
HETEROZYGOUS-The presence of
two different alleles at a particular
gene locus.
Ex. Cc,Tt,Ww
1. Ss
2. SS
3. ss
PATTERNS OF INHERITANCE
MENDELIAN- refers to certain
patterns of how traits are passed
from one parents to offspring.

NON MENDELIAN- It describes

the inheritance of traits linked to a
single chromosome.
  Autosomal
I. Dominant
Inheritance

II.

III.
Each affected individual has one affected parent
Males and females may be affected
Pattern of inheritance is vertical (passed from generation to
generation)
Autosomal Dominant Inheritance
 Each affected individual has one affected
parent
 Males and females may be affected
 Pattern of inheritance is vertical (passed
from generation to generation)
 Ex. Huntington Disease( brain nerve cells),
Marfan Syndrome( connective tissue)
Each affected individual has one affected parent
Males and females may be affected
Pattern of inheritance is vertical (passed from generation to
generation)
  Autosomal
I. Recessive
Inheritance

II.

III.
Males and females may be affected
Pattern of inheritance is horizontal (usually seen in siblings)
Offspring of parent with the condition are obligate carriers
Do not need a parent who is affected; each parent must be a carrier of the
recessive gene
 Autosomal Recessive Inhertance
 Males and females may be affected
 Pattern of inheritance is horizontal
(usually seen in siblings)
 Offspring of parent with the condition
are obligate carriers
 Do not need a parent who is affected;
each parent must be a carrier of the
recessive gene
 Ex. Cystic fibrosis( mucus), sickle cell
Males and females may be affected
Pattern of inheritance is horizontal (usually seen in siblings)
Offspring of parent with the condition are obligate carriers
Do not need a parent who is affected; each parent must be a carrier of the
recessive gene
  X-Linked
Inheritance

Gene is located on X chromosome

Female is usually clinically normal and disorders are typically seen more often in males than
females
Absence of male-to-male transmission
 X-Linked Inheritance
 Gene is located on X chromosome
 Female is usually clinically normal
and disorders are typically seen
more often in males than females
 Absence of male-to-male
transmission
 Ex.Hemophilia,Fabry disease
Gene is located on X chromosome
Female is usually clinically normal and disorders are typically seen more often in males than
females
Absence of male-to-male transmission
Gene is located on Y chromosome
Variant can only be passed from father to son
Ex.Swyer Syndrome,Y chromosome
infertility
 Y-Linked Inhertance
 Gene is located on Y chromosome
 Variant can only be passed from father to
son
 Ex.Swyer Syndrome,Y chromosome
infertility
Gene is located on Y chromosome
Variant can only be passed from father to son
Ex.Swyer Syndrome,Y chromosome
infertility
ACTIVITY TIME
Activity # 1 Case Analysis
Activity # 2
You are going to have an
inventory of your own easily
observable gentic traits.Make a
bar graph to show the most and
least common traits in the group.
Assignment:

 Identifya unique trait

in your family and
present it through
Pedigree Chart.
Always remember that you
are absolutely unique.Just
like everyone else.