PEDIGREE ANALYSIS  ii. Recessive.

A trait that requires two

recessive alleles for the trait to be
Content Standard
expressed.
 The learners understand Mendel’s Laws of
 Phenotype. A trait that is expressed due to
Inheritance.
specific environmental conditions (i.e.
Performance Standard
having hair that id dyed of a different
The learners shall be able to:
color) and is not due to the genotype.
 Make a Pedigree Analysis in the learner’s
family using a simple genetic trait.
Monohybrid Cross
Learning Competency
Parent – RR x rr
 The learners shall be able to construct Red White
pedigrees and predict genotypes based on R R
pedigree analysis (STEM_BIO1/12-llla-b-1)
F1 r Rr Rr Genotype = Rr = 4
Relevant vocabulary
r Rr Rr Phenotype = Red – 4
 l. Pedigree. Making use of diagrams showing
Rr x Rr
the ancestral relationships and transmission of
genetic traits over several generations in a Genotype = RR – 1
R RR Rr
family. F2
r Rr rr Rr – 2
 ll. Proband. The individual in the pedigree Rr – 1
that led to the construction of the pedigree. Phenotype Red – 3
For example, a couple consults a medical White - 1
geneticist because they have an offspring who
is afflicted with a disease and they want to
SEED Dihybrid Cross
find out the mode of transmission of this
disease. When the medical geneticist RRYY x rryy
constructs the pedigree, the offspring will be R – Red
labeled as the proband. Through the pedigree, Y – Round Genotype = RrYy = 16
the probability of having other affected r – Brown Phenotype = All Round &
children may be determined. y – Heart Red
 Genotype. The gene pair an individual carries
for particular trait symbolized with a pair of F1 RY RY RY RY
letter (eg. A) for a dominant allele and ry RrYy RrYy RrYy RrYy
lowercase letter (eg. A) for the recessive ry RrYy RrYy RrYy RrYy
allele. Any letter in the alphabet may be used. ry RrYy RrYy RrYy RrYy
GENOTYPE CONTINUE.. ry RrYy RrYy RrYy RrYy
 A. For a diploid organism with two alleles
in a given gene pair, genotypes may be RrYy x RrYy
written as: RY Ry rY ry
 i. Homozygous dominant, i.e. with two
F2
RY RRYY RRYy RrYY RrYy
dominant alleles (DD)
Ry RRYy RRyy RrYy Rryy
 ii. Heterozygous, i.e. with a dominant and
rY RrYY RrYy rrYY rrYy
recessive allele (Dd). The individual will
ry RrYy Rryy rrYy rryy
show the dominant phenotype.
 iii. Homozygous recessive, i.e. with two
Genotype = Phenotype
recessive alleles (dd)
RRYY – 1/16 Red & Round – 9
Phenotype
RRYy – 2/16 Red & Heart – 3
 A. The observable trait of an individual
RrYY – 2/16 Brown & Round – 3
based on its genotype. Examples: red
RrYy – 4/16 Brown & Heart – 1
flower, curly hair, blood types ( i.e. the
rrYY – 1/16 16
blood type is the phenotype)
rrYy – 2/16
 B. For a typical Mendelian trait, rryy – 1/16
phenotypes may either be: RRyy – 1/16
 i. Dominant. A trait that requires at least Rryy – 2/16
one dominant allele for the trait to be 16/16
expressed, e.g. Dd
 Identical twins.
Also known as monozygotic twins, which are
derived from a single fertilization event. After the
first cleavage or cell division of the zygote, the
cells or blastomeres separate and become
independent blastocysts implanted in the mother’s
uterus.
 Fraternal twins.
Twins that are derived from separate fertilization
events (two eggs fertilized by two sperms) within
the fallopian tube, resulting in two separate
zygote; also known as dizygotic twins.
WHY DO PEDIGREES?
 Punnett squares and chi-square tests work well
for organisms that have large numbers of
offspring and controlled matings, but humans
are quite different:
1. Small families. Even large human families
have 20 or fewer children.
2. Uncontrolled matings, often with
heterozygotes.
3. Failure to truthfully identify parentage.
GOALS OF PEDIGREE ANALYSIS
 1. Determine the mode of inheritance:
dominant, recessive, partial dominance, sex-
linked, autosomal, mitochondrial, maternal
effect.
 2. Determine the probability of an affected
offspring for a given cross.
OUTSIDER RULES
 In any pedigree there are people whose parents
are unknown. These people are called
“outsiders”, and we need to make some
assumptions about their genotypes.
 Sometimes the assumptions are proved wrong
when the outsiders have children. Also, a
given problem might specify the genotype of
an outsider.
 Outsider rule for dominant pedigrees: affected
outsiders are assumed to be heterozygotes.
 Outsider rule for recessive pedigrees:
unaffected (normal) outsiders are assumed to
be homozygotes.
 Both of these rules are derived from the
observation that mutant alleles are rare.
MATERNAL EFFECT GENES
 The maternal effect rule “Mother’s genotype
determines offspring’s phenotype.”
 Also assume all “outsiders” (people with
unknown parents) are homozygous for the
allele they are expressing: the dominant allele
if they are unaffected, and the recessive allele
if they are affected.
AA aa
AA aa

BASIC SYMBOLS

Male (unaffected) 1/2AA 1/2Aa

1/2Aa 1/2aa
Affected male
SEX-INFLUENCED TRAIT
Female  Assume that the trait is dominant in males but
recessive in females.
Affected female  Assume all outsiders are homozygotes.
 Thus:
Unknown sex - DD is always affected
- dd is always normal
Dead - Dd is affected in males, but normal in
females
MORE SYMBOLS DD dd
Mating
Dd Dd
Consanguineous mating
1/2Dd 1/2Dd
Offspring 1/2dd
1/2dd
Arrow points to proband 1/2AA
1/2Aa
1/2males (Dd) affected,
1/2males and all females normal
 SEX-LIMITED TRAIT
 There are several possibilities for
dominance, but for this problem assume
the trait is dominant but only expressed in
males.
 Affected outsider males are heterozygous;
unaffected males are homozygous normal
 Assume that outsider females are
homozygous normal.

Dd dd

dd dd

1/2Dd 1/2Dd (affected)

1/2dd 1/2dd (normal)
(all normal)

SEX-LINKED DOMINANT
 Mothers pass their X’s to both sons and
daughters
 Fathers pass their X to daughters only
 Normal outsider rule for dominant
pedigrees for females, but for sex-linked
traits remember that males are hemizygous
and express whichever gene is on their X.
 XD = dominant mutant allele
 Xd = recessive normal allele

XDY

XDXd XdY
XdY XDXd

¼ XDXd (affected)
¼ XdXd (normal)
¼ XDY (affected)
¼ XdY (normal)