PEDIGREE

ANALYSIS
 USING PEDIGREES

Why Do We Perform Pedigree

Analysis?
1.A useful approach to study the
inheritance of traits in humans is
pedigree analysis. A pedigree is a
graphical representation of how a trait
is inherited among the members of a
family. This is the first effective method
introduced to determine the mode
of inheritance of a trait . Given the
periodic occurrence of a genetic
characteristic in a family, we can also
assess the risk of recurrence,
especially if it is a genetic variation
disorder. .
 USING PEDIGREES

However, as mentioned earlier, challenges in studying the

inheritance of traits in humans involve problems in the
collection of information. Usually, one can construct an
accurate pedigree of a family from a survey or interview if
the interviewee is knowledgeable about the number of
children, sex, and the occurrence of the trait among his or
her relatives. Otherwise, false data can lead to wrong
interpretation of a pedigree.
 PEDIGREE ANALYSIS IN GENETIC COUNSELING

Genetic counseling is a procedure performed in health institutions, wherein

advice is given to a family afflicted with or at risk of getting a genetic condition.
A genetic counselor usually elaborates on the genetic, psychological, and other
implications of the condition so that the family may adapt as needed. The
process of genetic counseling entails the analysis of pedigrees constructed
from a series of questions answered by the family to generate any pertinent
information. However, it will always be critical to accurate genetic counseling
that the family being interviewed has a correct recollection of the inheritance of
traits among their relatives.
PEDIGREE ANALYSIS IN
GENETIC COUNSELING

GENETIC HEALTH PRACTITIONERS MAKE A

CAREFUL ANALYSIS OF ALL OBTAINED
INFORMATION TO ASSESS THE RISK OF
RECURRENCE OF A GENETIC CONDITION IN
A FAMILY.
 CONSTRUCTING PEDIGREES

• Symbols and notations are used to

construct a pedigree. These symbols
set the standard in all genetic tests or
analyses, and they are as follows.
1. Sex. Use squares for male individuals
and circles for females.
2. Traits. A shaded square or circle
denotes that an individual is affected by
the condition. Otherwise, the individual
does not possess the condition and is
represented by an unshaded shape.
 CONSTRUCTING PEDIGREES

• Symbols and notations are used to

construct a pedigree. These symbols
set the standard in all genetic tests or
analyses, and they are as follows.
3. Status. A slash is used to denote that
an individual is deceased. Not all
pedigrees specify this status of the
individuals, however.

4. Proband. Sometimes, pedigrees

specify the individual being studied or
observed. Usually, a proband is a member
of the family who first sought the
attention of a genetic counselor. A
proband is represented by an arrow.
 CONSTRUCTING PEDIGREES

• Symbols and notations are used to

construct a pedigree. These symbols
set the standard in all genetic tests or
analyses, and they are as follows.
5. Carrier. A half-shade is used to represent
that an individual is a carrier for a genetic
condition. Specifically, the carrier individual is
said to be heterozygous for the condition.
Take note that the status of being a carrier is
not always shown in a pedigree.
6. Unknown Sex. Sometimes, the family
being interviewed prior to genetic counseling
may be certain about the number of children
of a relative, but not sure about their sexes. In
such cases, a diamond symbol is used.
 CONSTRUCTING PEDIGREES

• Symbols and notations are used to

construct a pedigree. These symbols
set the standard in all genetic tests or
analyses, and they are as follows.
7. Mating. Mating between a couple is
denoted by a horizontal line connecting
them.

8. Offspring. The children of matings are

represented by a vertical line that connects
to the parents.
9. Consanguinity. Mating between
genetically related individuals, or a
consanguineous mating, is represented by
a double horizontal line. An example of this
is when cousins marry each other and have
 CONSTRUCTING PEDIGREES

• Symbols and notations are used to

construct a pedigree. These symbols
set the standard in all genetic tests or
analyses, and they are as follows.
10. Twinning. Twins can be denoted by
branching from a common point.
• Connecting the members of a twin
represents a monozygotic or identical
condition. Otherwise, they are considered
dizygotic or fraternal.

11. Labels. Roman numerals are used to

denote generations. In each generation,
individuals are numbered consecutively from
left to right.
For example, individual II-2 is an affected son
 ANALYZING PEDIGREE'S REMEMBER
In problems involving pedigree analysis, it
is rare that the specific trait or
Identifying whether a trait that runs in the characteristic is provided in the problem.
family is dominant or recessive is crucial Also, whether an individual is a carrier or
to the determination of the chances of not is not specified. These will somehow
recurrence of that trait in the family. This defeat the purpose of the analysis.
can also contribute to continuously
becoming a more extensive understanding For example, we cannot specify that the
of how human traits are inherited. It may trait involved is albinism because you are
not be as convenient as generating already familiar with its mode of
hundreds of seeds in plant hybridization. inheritance, which is autosomal recessive.
However, it can at least narrow down Also, the "half-shaded" symbol is not used
options regarding the possible mode of to denote the carrier status of an
inheritance of a trait in humans. individual. It is the purpose of the analysis
to determine whether an individual is a
carrier or not.
 ANALYSIS PEDIGREE'S

The traits that will be analyzed in this

lesson, similar to the characteristics
observed by Mendel in garden peas,
are autosomal. The genes for these traits
are found in the autosomes, the set of
chromosomes that do not differ between
males and females. Other traits are said to
be sex-linked because the genes that
code them are found on the sex
chromosomes. These traits will be
discussed further in the next chapter of
this unit.
 AUTOSOMAL DOMINANT TRAITS

Compared with recessive traits,

dominant traits are relatively
easier to identify because
individuals who possess the
dominant allele express or
manifest the corresponding
phenotype. The pedigree that is A sample pedigree for the inheritance of an
given in Fig. 1.3.6 represents the autosomal dominant trait that runs in the family
shows that an affected offspring should have at least
inheritance of a trait that follows
one affected parent.
the autosomal dominant mode of
inheritance.
 AUTOSOMAL DOMINANT TRAITS

1. Note that in this mode of

inheritance, an affected individual
shall have at least one affected
parent.

a. In the given pedigree, both II-2

and II-4 inherit their dominant A sample pedigree for the inheritance of an
alleles from their father, 1-1. autosomal dominant trait that runs in the family
shows that an affected offspring should have at least
one affected parent.
b. The same is true for individual
III-2, who inherited a dominant
allele from his mother, II-2.
AUTOSOMAL DOMINANT TRAITS

2. Given the previous case,

autosomal dominant traits have the
tendency to not skip generations.
This means that the trait may most
likely be present in every generation.
3. We can also determine the
genotypes of the individuals in the
given pedigree.

a. Suppose that 1-1 is heterozygous

Aa, and 1-2 is da. As a result, da A sample pedigree for the inheritance of an
individuals are present in the autosomal dominant trait that runs in the family
offspring (i.e., II-3, II-6, and II-7). shows that an affected offspring should have at least
one affected parent.

b. Thus, II-2 and II-4 must be

heterozygous was, Aa.
 AUTOSOMAL DOMINANT TRAITS

Examples of autosomal dominant

traits include achondroplasia, a
form of dwarfism. Due to a
dominant mutation in a gene that
codes for the normal
development of bones, an
affected individual ends up having
short stature. Particularly, these
individuals suffer from the
impairment of the conversion of
cartilage into bones during
development. As shown, this are
 AUTOSOMAL RECESSIVE TRAITS

In an actual analysis of pedigrees during genetic health

consultations, identifying autosomal recessive traits are
relatively more challenging. The difficulty in detecting
them lies on the premise that an affected child usually has
two unaffected parents. In such cases, both parents
must be carriers of the recessive allele. Furthermore,
recessive traits that are rare in populations usually appear
when members of a couple are genetically related to each
AUTOSOMAL DOMINANT TRAITS

1. The given pedigree in Fig. 1.3.8

shows an autosomal recessive trait
because

individual II-2, who is affected, has

two unaffected parents, 1-1 and 1-2.
. A sample pedigree for the inheritance of an
autosomal recessive trait that runs in the family
2. The same is true for individual III-3, shows that an affected person may have two
who is also affected but has two unaffected parents.
unaffected parents.
AUTOSOMAL DOMINANT TRAITS

3. Given the pedigree, we can also

conclude some genotypes.

a. Given that individual II-2 is

affected (aa), both of the unaffected
parents must be heterozygous, Aa. In
. A sample pedigree for the inheritance of an
addition, individual II-4 can be autosomal recessive trait that runs in the family
concluded as heterozygous given shows that an affected person may have two
that she has an affected child. II-1 unaffected parents.
can either be homozygous or
heterozygous dominant.
THE PEDIGREE BELOW TRACKS THE PRESENCE OF ATTACHED EARLOBES
THROUGH A FAMILY'S GENERATION. HAVING ATTACHED EARLOBES IS AN
WHAT IS THERECESSIVE
AUTOSOMAL GENOTYPETRAIT.
OF
INDIVIDUAL I-1?
THE PEDIGREE BELOW TRACKS THE PRESENCE OF ATTACHED EARLOBES
THROUGH A FAMILY'S GENERATION. HAVING ATTACHED EARLOBES IS AN
WHAT IS THERECESSIVE
AUTOSOMAL GENOTYPETRAIT.
OF
INDIVIDUAL II-3?
INTERACTION BETWEEN GENES

• In polygenic characteristics,
genes work together, often
with one gene enhancing or
reducing the effect of
another.

• This interaction leads to a

broad range of possible
outcomes for any given
characteristic.
ENVIRONMENTAL INFLUENCE ON
POLYGENIC CHARACTERISTICS

• While genes play a big role in

determining characteristics,
the environment can also
affect them.

• For example, nutrition can

influence how muscular
someone becomes, even
though their genes provide a
basic blueprint for their size.
 LESSON REFLECTION...I CAN...

• Define polygenic characteristics in

simple terms.

• Explain how multiple genes influence

phenotypic characteristics.

• Provide examples of polygenic

characteristics in humans.