LQB182 - Workshop 4

Human Pedigree Analysis

Reference & additional example questions see Campbell Chapter 14

Working with Drosophila fly crosses is a relatively simple way to demonstrate genetic
principles. When dealing with human genetics such analyses are not possible. Even if
you could tell people with whom to marry & produce offspring, the wait to see the
outcome of each cross would be tedious (especially if the trait only manifested itself
in mature individuals!). Furthermore, the number of human offspring is not sufficient
for any meaningful statistical analysis (as may be done using Drosophila cross data in
VirGen).

Pedigree analysis involves the plotting of family relationships back through as many
generations as possible (a.k.a. genealogy). The result is a family tree or pedigree. When
members of the family inherit a characteristic phenotype this may also be plotted on
the pedigree. These phenotypes may simply be examples of commonly seen variation in
human features such as eye colour, widows peak or attached earlobe OR they may be
pathological disease states.

Human geneticists and medical scientists rely on pedigree analysis to determine

whether or not certain traits (often disease states) are inherited conditions:
The key question to ask is what is the mode of inheritance? eg, dominant,
recessive, sex-linked or autosomal, lethal or not and what are the chances of
offspring being heterozygous or homozygous for the trait or homozygous wild
type.

Symbol Conventions used in this pedigree analysis workshop;

= male = female

= male showing trait = female showing trait

1
Problems: For each pedigree determine (where possible) whether the trait is
dominant or recessive and whether it is autosomal or sex linked.

NB: Unless stated in the question and in the absence of genotype testing
(expensive) it is unknown whether the parents are heterozygous or homozygous.
Part of your analysis is inferring (where possible) from the phenotypic data
whether or not the parents and their offspring are heterozygous or homozygous.

Problem 1: Determine whether the traits shown in the pedigrees are dominant or
recessive, autosomal or sex-linked. Determine whether you need more information to
make a call ie. for the pedigrees shown below several models of inheritance may be
proposed in the absence of more generational data you need to propose all of the
most likely ones! Which one if any could be sex-linked.

(a) (b)

(c) (d)

Problem 2: The pedigree shows the inheritance of a dominant trait. What is the
probability that the offspring of the following consanguineous matings will show the
trait: (a) III-1 X III-3; (b) III-2 X III-4

I Consanguineous = matings between

1 2 relatives, in this case cousin to cousin.
These were relatively common in pre-
II industrialised human societies and
1 2 3 4 remain so in some human cultures today.

III
1 2 3 4

2
Problem 3:
Is the following pedigree displaying a Dominant or recessive trait? What is the
probability that the offspring of IV5 will show the trait if she marries a) her
boyfriend with the trait OR alternatively b) another boyfriend who is known to be
homozygous wild type, OR c) these two boyfriends fight leaving the field clear for her
childhood sweetheart who is heterozygous...

II

III

IV or ?
1 2 3 4 5 6
V

Problem 4:
In this pedigree we know that I1 is homozygous. With this in mind, is the pedigree
displaying a Dominant or recessive trait? a) What is the probability that the offspring
of couple III-1 and III-2 will have the trait? b) What probability for IV-2 and IV-3?

I
1 2

II
1 2 3 4 5

III
1 2 3 4 5 6 7 8

IV
1 2 3