BIO 122 (Genetics)
EXERCISE 4
Pedigree Analysis
A pedigree is a list of ancestors from whom a person
might trace the mode of inheritance of a certain trait. The
study of pedigrees, particularly of humans, developed
slowly until the last half century, Human inheritance
appeared to be too complicated and difficult to analyze,
and it was far easier to study other animals and plants. In
addition, the number of children per family is small, and
the life span relatively long.
The classical study of single gene effects was done by
conventional pedigree analysis. Even with the existing
limitations, the modes of inheritance of thousands of traits
have been evaluated. Today, the convention is still valid
and useful for studying many human traits.
In a pedigree chart, the circles represent females and the
squares, males. A straight horizontal line joins the
symbols for the mother and father, and a vertical line
connects with the horizontal line to represent the family
line. The order of birth is represented by left to right
arrangement of symbols. Roman numerals, if included,
represent the generations, while Arabic numbers
represent the sequence of persons in the same generation.
Thus, individual III-2 is the person represented in the 3 rd
generation, 2nd from the left.
The proband or propositus (proposita, if female), who is
the person seeking advise and therefore of interest in the
analysis, is indicated with an arrow, Shaded circles or
squares indicate that the individuals represented exhibit
the trait being studied. The other symbols used in most
pedigrees are found in Figure 3-12. In this exercise, you
will analyze pedigrees human or otherwise, and learn how
to prepare a human pedigree illustrating the pattern of
inheritance using two traits.
Here is a summary of characteristics of some inheritance
types:
Autosomal Recessive
1. Affected children often have unaffected parents.
2. Two affected parents have only affected children.
3. The number of affected males and females are
approximately equal.
4. Affected individuals are more frequent among
the offspring of related parents.
Autosomal dominant
1. The trait does not skip generations.
2. The number of affected males and females are
approximately equal.
3. Two unaffected parents have only unaffected
children.
4. Affected parents (most of whom are
heterozygous) have both affected and unaffected
children.
5. In families where only one parent is an affected
heterozygote, half the children on average are
affected.
X-linked Recessive
1. Affected males are more common than affected
females.
2. Affected fathers always transmit the allele to
daughters, most of whom are unaffected carriers.
3. Affected fathers never transmit the trait to sons.
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 4. On average, half of the sons of a heterozygous
mother are affected.
5. A woman will be affected only if her father was
affected.
X-linked Dominant
1. Affected males always have affected mothers.
2. All daughters of affected males are affected.
3. On average, half the sons and half the daughters
of a heterozygous mother are affected.
Y-linked
1. All sons of affected males always affected.
2. No daughters of affected males are affected.
Sex-Limited
1. Traits are found in one sex only.
Sex-Influenced
1. More males affected than females (male
dominant)
2. All sons of affected mother will be affected.
3. An affected father can but not always transmit
trait to a son.
4. Two unaffected parents cannot have an affected
daughter.
5. If more females are affected than males (female
dominant), reverse the sexes for numbers 1 to 4.
Multiple Alleles
1. Many phenotypes are present.
2. There is hierarchy of dominance.
Epistasis
1. Inheritance of traits can be explained only by
using two pairs of alleles.
Steps in analyzing a pedigree (Anderson & Gametzky,
1997):
1. Establish if possible whether the trait is common
or rare in the general population. For rare traits,
unrelated unaffected individuals are almost
always homozygous normal. For recessive traits
that are common in the general population,
however, unrelated unaffected individuals might
be heterozygous. This possibility must be
considered for common traits.
2. Establish whether the trait is dominant of
recessive. Are generations skipped? Dominant
traits do not skip generations. Recessive traits
usually skip generations, especially if they are
rare in the general population. If unaffected
parents have affected children, the trait must be
recessive.
3. Examine whether both males and females are
affected. If only males are affected, X- linked
recessive inheritance is a good candidate. Males
affected by X-linked recessive traits always have
homozygous or heterozygous mothers and
daughters.
4. Examine whether fathers pass the traits to sons.
If they do, the trait cannot be X- linked.
5. Examine whether fathers always pass the allele to
daughters. If they do, X-linked in- heritance is a
good candidate. If they do not, X-linked
inheritance is ruled out.
6. Establish whether any matings are
consanguineous (occurring between relatives).
7. Such traits are usually recessive and occur more
frequently among the children of related parents
than among those of unrelated parents.
References:
Anderson, Philip and Barry Ganetzky. 1997. An
Electronic Companion to Genetics
Workbook. Cogito Learing Media. Inc. NY
Mertens, Thomas R. and Robert L. Hammersmith,
Genetics: Laboratory Investigations, 12th ed,
Prentice Hall, New Jersey. 257-267
Umaly, Ruben C., and Remedios R. Roderos 1986,
Lecture Notes on Modern Genetics. Vol 1,
2nd ed. Vibal Publishing House, Inc. Metro
Manila
Weaver, Robert F. & Hedrich, Phizar. Genetics,
WCBrown
ACTIVITY
I. PEDIGREE ANALYSIS
1. Study the characteristics of the different modes
of inheritance
2. Study the pedigrees given, and determine the
modes of inheritance of the pedigrees
3. Justify your choice.
4. Indicate the genotype of each member of the
pedigree. If the homozygosity is not certain,
indicate by representing the second allele with a
question mark (?).
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 5. Answer the following questions: 3. Select two common characteristics that are
For Fig. 1 observable in your family tree. Create two
• What are the genotypes of individuals I- separate pedigrees. You can select from, but not
1 and I-2? limit yourself with, the list of characteristics
• What is the probability that the child of below:
individuals III-1 and III-2 will be A. Albinism
affected? B. Baldness
For Fig. 2 C. Bent little finger (camptodactyly)
• If individual III-2 marries an unaffected D. Cleft chin
person, what is the probability of them E. Color blindness
having an affected child? F. Diabetes
• Individual II-3 is unaffected. Explain G. Dimples
why this is possible. H. Double jointed thumbs
For Fig. 3 I. Free or attached earlobes
• What is the genotype of individual II-4? J. Index finger shorter than ring finger
• If individual II-2 marries an unaffected K. Hair whorl
male, what is the probability they will L. Handedness (left or right)
have an affected son? M. Hand clasping (left over right or vice
For Fig. 4 versa)
• Is the father of individual III-1 affected N. Mid digital hair
or unaffected? Why? O. Myopia
• What is the probability that a daughter of P. Polydactyly
individual II-1 will be a carrier of the Q. PTC Tasting
trait? R. Tongue folding or rolling
For Fig. 5 S. Widow’s peak
• If individual II-2 marries an unaffected 4. Based on the pedigree you constructed, indicate
woman, what is the probability they will the mode of inheritance of each trait, reasons for
have an affected daughter? your choice and assign genotypes for the two
• Why are there more affected females traits of every member of your pedigree.
than males in this pedigree?
For Fig. 6
• Will any daughters of individual II-1 be
affected by the trait? Why or why not?
• If individual III-2 has a son, what is the
chance that the son will be affected?

B. CONSTRUCTION OF PEDIGREES (Individual)

1. Using pedigree symbols, construct your own
family tree showing 3 generations. Make yourself
the proband.
2. Assign numbers in the pedigree using the
convention. As much as possible, include the
names of the persons in your tree. (A greater
number of persons in the family tree is better for
analysis).

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II

III

Fig. 1

II

III

Fig. 2

II

III

Fig. 3

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II

III

Fig, 4

II

III

Fig. 5

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III

Fig. 6