PEDIGREE

ANALYSIS
PATRICK JUMAR S. BUENAFLOR, RMT, MSMT(c)
Pedigree Analysis
• In humans, pedigree analysis is used to
determine individual genotypes and to
predict the mode of transmission of single
gene traits
• Pedigree charts show a record of the family
of an individual
• They can be used to study the transmission
of a hereditary condition
• They are particularly useful when there are
large families and a good family record over
several generations.
Studying Genetics
• Pedigree charts offer an ethical way of
studying human genetics (Because you
cannot make certain individuals breed in
order to study genetics.)
• Today genetic engineering has new tools to
offer to doctors studying genetic diseases
• A genetic counsellor will still use pedigree
charts to help determine the distribution of a
disease in an affected family
Pedigree Chart
Pedigree Chart

A pedigree chart of a family showing 20

individuals.
Pedigree Chart: EXAMPLE

• If two affected individuals give rise to an unaffected

child the affected condition is dominant
• So roller allele is dominant (R) and non-roller allele
is recessive (r).
Pedigree Chart: EXAMPLE

•All non-rollers must be genotype rr

 Pedigree Chart: EXAMPLE

• If one of the parents is a roller and the other is a non-roller all

the roller children must be heterozygous rollers (Rr)
• If a roller parent has a non-roller child the parent must be
heterozygous.
Basic patterns of inheritance

•Autosomal, recessive
•Autosomal, dominant
•X-linked, recessive
•X-linked, dominant (very
rare)
What is the difference between
an Autosome and a Sex-
chromosome?
•Autosomes are the first
22 homologous pairs of
human chromosomes
that do not influence the
sex of an individual.
•Sex Chromosomes are the
23rd pair of chromosomes
that determine the sex of
an individual.
Autosomal Traits
•Genes located on
Autosomes control
Autosomal traits
and disorders.
2 Types of Traits:
•Autosomal
Dominant
•Autosomal
Recessive
Autosomal Dominant Traits
• Trait is common in the pedigree
• Trait is found in every generation
• Affected individuals transmit the trait to ~1/2 of
their children (regardless of sex)
• Every affected person has an affected parent
Autosomal Dominant Traits

•If dominant allele is present on the

autosome, then the individual will express
the trait.
• What would be the genotype of an individual
with an autosomal dominant trait?
• AA and Aa (Heterozygotes are affected)
• What would be the genotype of an individual
without the autosomal dominant trait?
• aa
Autosomal Dominant Traits
• Huntington disease is a
progressive nerve degeneration,
usually beginning about middle
age, that results in severe
physical and mental disability
and ultimately in death
 Autosomal Dominant Traits
Achondroplasia Hutchinson-Gilford progeria syndrome
 Autosomal Recessive Traits
• Trait is rare in pedigree
• Trait often skips generations
(hidden in heterozygous
carriers)
• Trait affects males and females
equally
• Most affected persons have
parents who are not
themselves affected; the
parents are heterozygous for
the recessive allele and are
called carriers
• Approximately 1/4 of the
children of carriers are
affected
Autosomal Recessive Traits

•In order to express the trait, two recessive

alleles must be present.
• What would be the genotype of an individual with
an autosomal recessive trait? (A = dominant)
• aa
• What would be the genotype of an individual
without the autosomal recessive trait?
• AA or Aa
• Aa – called a Carrier because they carry the recessive
allele and can pass it on to offspring, but they do not
express the trait.
Autosomal Recessive Traits
•Most common ones
• Cystic fibrosis
• Sickle cell anemia
• Phenylketonuria (PKU)
• Tay-Sachs disease
•For each of these, overdominance
(heterozygote superiority) has been
suggested as a factor in maintaining the
disease alleles at high frequency in some
populations
Autosomal Recessive
Traits
• Albinism - Defect of
melanin production that
results in little or no color in
the skin, hair, and eyes
 Autosomal Recessive Traits
• Cystic Fibrosis - Disease
that causes the body to
produce unusually thick,
sticky mucus that:
• Clogs the lungs and leads to
lung infections
• Obstructs the pancreas
• Stops natural enzymes
from helping the body
break down and absorb
food
Autosomal Recessive Traits
Autosomal Recessive Traits

•Sickle Cell Anemia -

Caused by an abnormal
hemoglobin shape which
causes the red blood cells
to have a crescent shape.
Autosomal Recessive Traits
Sickle Cell Anemia
 Sex-Linked Traits
• Sex-linked traits are produced by genes only on the X
chromosome.
• They can be Dominant or Recessive.
• What would be the genotypes of a male and female that have a
Sex-linked Dominant trait and do not express the trait?
▪ Expresses Trait: Male - XA Y Female - XA XA or XA Xa
▪ No Expression: Male - Xa Y Female - Xa Xa
• What would be the genotypes of a male and female that have a
Sex-linked Recessive trait and do not express the trait?
▪ Expresses Trait: Male - Xa Y Female - Xa Xa
▪ No Expression: Male - XA Y Female - XA XA or XA Xa (Carrier)
 X-linked Recessive Traits
• Trait is rare in pedigree
• Trait skips generations
• Affected fathers DO NOT pass to their
sons,
• Males are more often affected than
females
X-linked Recessive Traits
• Color Blindness - Inability to see colors in the normal way
X-linked Recessive Traits
• Hemophilia - Inability of the blood to clot properly
X-linked dominant trait
• Trait is common in pedigree
• Affected fathers pass to ALL of
their daughters
• Males and females are equally
likely to be affected
 X-linked dominant trait
• X-linked dominant
diseases are extremely
unusual
• Often, they are lethal
(before birth) in males
and only seen in
females
• incontinentia pigmenti
(skin lesions)
• X-linked rickets (bone
lesions)