Pedigree Analysis
(cf. chapters 4.4, 5.2, 6.2 of textbook)
• “crosses” and “matings” in human(s) (families) are
shown and analyzed in pedigrees
– pedigrees are formalized ways using standard sets of symbols
to depict family trees and lineages
– pedigrees provide concise and accurate records of families
– pedigrees are helpful in following and diagnosing heritable
traits (e.g. diseases and medical conditions), i.e. describing
patterns (or modes) of inheritance
– pedigrees are useful in mapping (locating and isolating) genes
“responsible” for certain traits (will be covered later)
Pedigree Construction
• use standard set of symbols (cf. normal female
figure 4.13 of textbook)
• one generation per row (oldest normal male
at the top)
female with trait
• siblings are shown in order of
birth (from left to right) male with trait
• generations are given roman
numerals (I, II, III, IV, etc.) sex unspecified
• individuals within a generation
(row) are given arabic numerals male, carrying allele
(1, 2, 3, 4, etc.) for trait but does not
• (show overhead) express it (“carrier”)
etc. etc. etc.
Analyzing Pedigrees
• trial and error: consider one mode of inheritance at a time for each
mating in pedigree and try to find evidence against it; repeat for each
mode of inheritance; e.g. autosomal recessive or dominant, sex
chromosome recessive or dominant, etc. etc.
• assumption: e.g. for rare traits unaffected people entering into a family
pedigree (e.g. by marriage) are considered homozygous normal
• result: pedigrees can frequently rule out, but not necessarily prove, a
certain mode of inheritance
• NB: Pedigrees and Punnett-Squares are tools that apply Mendel’s
first rule (“segregation of alleles”) to predict recurrence risks of
inherited traits, diseases or medical conditions.
autosomal recessive
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10
IV
1 2 3 4 5 6 7 8 9
• both sexes affected (males and females)
• trait can skip generations
• e.g. cystic fibrosis, albinism (cf. figure 4.15 of textbook)
autosomal dominant
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10
IV
1 2 3 4 5 6 7 8 9
• both sexes affected (males and females)
• trait does NOT skip generations
• e.g. myotonic dystrophy, hypotrichosis (hair loss that begins in
childhood; cf. figure 4.16 of textbook)
X chromosome linked recessive
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10 11
IV
1 2 3 4
• more affected males than females • trait can skip generations, e.g. when
• males never transmit to sons females are heterozygotes (“carriers”)
• daughters of affected males always • e.g. hemophilia and muscular dystophy
inherit (recessive!) mutation, thus (Duchenne form)
are “carriers” • cf. chapter 6.2 of textbook
X chromosome linked dominant
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10 11
IV
1 2 3 4
• both sexes affected (males and females)
• females transmit to daughters and sons
• males ALWAYS transmit to daughters, but NOT AT ALL to sons
• trait does NOT skip generations
• e.g. Rett Syndrome (mental retardation, neural degeneration)
• cf. chapter 6.2 of textbook
Y chromosome linked
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10 11
IV
1 2 3 4
• only males are affected
• males ALWAYS transmit to sons
• cf. chapter 6.2 of textbook
mitochondrial inheritance
I
1 2
4 6
II
1 2 3 5
III
1 2 3 4 5 6 7 8 9 10 11
IV
1 2 3 4
• both sexes are affected
• females transmit to ALL of their progeny
• males do NOT transmit to any of their progeny
• cf. chapter 5.2 of textbook
gender effects on phenotype
(cf. chapter 6.4 of textbook)
• sex-limited inheritance (e.g. traits affected by hormones)
– only one gender is capable of showing trait, the other gender
is NOT, regardless of underlying genotype
– the genes involved are typically autosomal, but the
expression of these genes is dependent on the gender of the
individual
– e.g. beard growth, breast size
• sex-influenced inheritance (e.g. traits affected by hormones)
– the gender of the individual determines whether a particular
phenotype assumes dominant or recessive state
• e.g. a phenotype that is dominant in one gender is
recessive in the other gender
– e.g. pattern baldness (dominant in males and recessive in
females)
problems in constructing a pedigree
• poor medical records
• scattering of family members
• inaccurate and anecdotal information
• miscarriages and still births
• infidelity / concealed adoptions
• variable expressivity of genotype (as phenotype)
• incomplete penetrance of genotype (showing phenotype)
• AGAIN: pedigrees can frequently rule out, but not
necessarily prove, a certain mode of inheritance
