LESSON 1: PEDIGREE ANALYSIS  ii. Recessive.

A trait that requires two

Content Standard recessive alleles for the trait to be
 The learners understand Mendel’s Laws of expressed.
Inheritance.  Phenocopy. A trait that is expressed due
Performance Standard to specific environmental conditions (i.e.
The learners shall be able to: having hair that id dyed of a different
 Make a Pedigree Analysis in the learner’s color) and is not due to the genotype.
family using a simple genetic trait.
Learning Competency Monohybrid Cross
 The learners shall be able to construct Parent – RR x rr
pedigrees and predict genotypes based on Red White
pedigree analysis (STEM_BIO1/12-llla-b-1) R R
Relevant vocabulary F1 r Rr Rr Genotype = Rr = 4
 l. Pedigree. Making use of diagrams showing r Rr Rr Phenotype = Red – 4
the ancestral relationships and transmission of Rr x Rr
genetic traits over several generations in a
family. R RR Rr Genotype = RR – 1
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
geneticist because they have an offspring who White - 1
is afflicted with a disease and they want to
find out the mode of transmission of this SEED Dihybrid Cross
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
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. ry RrYy Rryy rrYy rryy
 iii. Homozygous recessive, i.e. with two
recessive alleles (dd) Genotype = Phenotype
Phenotype RRYY – 1/16 Red & Round – 9
 A. The observable trait of an individual RRYy – 2/16 Red & Heart – 3
based on its genotype. Examples: red RrYY – 2/16 Brown & Round – 3
flower, curly hair, blood types ( i.e. the RrYy – 4/16 Brown & Heart – 1
blood type is the phenotype) rrYY – 1/16 16
 B. For a typical Mendelian trait, rrYy – 2/16
phenotypes may either be: rryy – 1/16
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.
BASIC SYMBOLS
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

Male (unaffected)
1/2AA 1/2Aa
Affected male 1/2Aa 1/2aa

Female SEX-INFLUENCED TRAIT

 Assume that the trait is dominant in males but
Affected female recessive in females.
 Assume all outsiders are homozygotes.
Unknown sex  Thus:
- DD is always affected
Dead - dd is always normal
- Dd is affected in males, but normal in females
MORE SYMBOLS
DD dd
Mating

Consanguineous mating Dd Dd

Offspring 1/2Dd
1/2Dd
Arrow points to proband 1/2dd
1/2dd
1/2AA
1/2Aa
1/2males (Dd) affected,
1/2males and all females normal
SEX-LIMITED TRAIT Autosomal Autosomal X-Linked X-Linked
 There are several possibilities for dominance, Dominant Recessive Dominant Recessive
but for this problem assume the trait is
dominant but only expressed in males. >Don’t Skip >Skip >Disease >Males
Generation. Generation. never are more
 Affected outsider males are heterozygous; transfer affected.
unaffected males are homozygous normal >Affected >Unaffected from
 Assume that outsider females are homozygous Parent can parents can father to >Disease
normal. have have son. never to
unaffected affected transfer
Dd dd children. children. >All from
daughters father to
>Affected of an son.
individuals affected.
has one copy
of a mutant
dd dd gene on a pair
of autosomal
chromosomes.

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 Autosomal
 Normal outsider rule for dominant pedigrees Autosomal Dominant Recessive
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

X-Linked X-Linked
Dominant Recessive

XDXd XdY
1ST QUIZ
XdY XDXd
1.

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

AUTOSOMAL RECESSIVE
2.

II

III

IV AUTOSOMAL RECESSIVE

3.

7.

I.

AUTOSOMAL RECESSIVE
II.
4.

III.

AUTOSOMAL
RECESSIVE
IV.
AUTOSOMAL
DOMINANT

5.

AUTOSOMAL
RECESSIVE

6.
X-LINKED
DOMINANT
LESSON 2: SEX LINKAGE AND
RECOMBINATION
Content Standard
• The learners understand inheritance of
Sex Linked characters
Performance Standard
• The learners shall be able to:
- make a research paper/case
study/poster on transmission of a sex-
linked genetic disease
Learning Competency
• The learners shall be able to explain sex
related inheritance and recombination;
illustrate the transmission of sex-linked
characters; and distinguish sex-linked
traits from other sex-related traits
(STEM_BIO11/12-IIIab-2)
Specific Learning Outcomes
• At the end of the lesson, the learners
will be able to:
1. illustrate the transmission of an X-
linked and a Y-linked character;
2. compute the probability of the
occurrence of a sex-linked trait; and
3. Give examples of other sex-related
traits.
COLOR BLIND TEST
• Those that could see the figure are
normal; those that cannot are
colorblind. In most cases, the colorblind
males outnumber the colorblind
females, colorblind females are rare.
• Colorblind individuals are normal
except that they could not distinguish
between red and green colors.
Misconception: Common misconception
is that baldness occurs only in males.
Emphasize that baldness does happen in
women, although the frequency is much
lower and is therefore rare
Relevant Vocabulary
• I. Sex linked trait - The gene (pair) that
determines a character (e.g. hemophilia)
is located on the sex chromosomes.
• X-linked trait - A sex-linked trait is
where the gene or allele for the trait is
found on the X chromosome
• Color blindness. An X-linked recessive
trait where a affected individual could
not distinguish red from green color
(red green color blindness
• Hemophilia. An X-linked recessive
trait where an affected individual
suffers from delayed blood clotting
during injuries because of the absence
of certain blood clotting factors
• Y-linked trait. A sex-linked trait where
the gene or allele for the trait is found
on the Y chromosome
• Hypertrichosis pinnae auris. A Y-
linked trait where affected males have
hair growing from their external ears
X linked Dominant
• X-Linked Dominant disorders are
caused by mutations in genes on the
X Chromosome, one of the two sex
chromosomes in each cell.
• In females (who have two X ACTIVITY.
chromosomes), a mutation in one of the
two copies of the gene in each cell is • The last Emperor of Russia, Nicolas II,
sufficient to cause the disorder. In was married to Empress Alexandra, and
males (who have only one X they had five children, Olga, Tatiana,
chromosome), a mutation in the only Maria, Anastasia, and Alexis. Alexis
copy of the gene in each cell causes the was the only one who was afflicted with
disorder. In most cases, males hemophilia or the royal bleeding
experience more severe symptoms of disease; all other members were
the disorder than females. A normal.
characteristic of X-linked inheritance is – • Research on this medical
that fathers cannot pass X-linked traits condition and determine the
to their sons (no male-to-male mode of inheritance.
transmission). – • If only Prince Alexis was
afflicted with the disease,
X linked Recessive determine his genotype.
• X-Linked Recessive disorders are also – • What could be the genotypes of
caused by mutations in genes on the X the Emperor and Empress?
chromosome. In males (who have only • • Is it possible that each daughter could
one X chromosome), one altered copy have been a carrier? Explain.
of the gene in each cell is sufficient to
cause the condition. In females (who QUIZ
have two X chromosomes), a mutation 1. Genotype
would have to occur in both copies of 2. Pedigree
the gene to cause the disorder. Because 3. Fraternal Twins
it is unlikely that females will have two 4. Phenotype
5. Heterozygous
altered copies of this gene, males are
6. Proband
affected by X-linked recessive disorders 7. Phenotype
much more frequently than females. A 8. Outsider
characteristic of X-linked inheritance is 9. Identical Twins
that fathers cannot pass X-linked traits 10. Bonus
to their sons (no male-to-male 11. Dead
12. Unknown Sex
transmission)
13. Affected Female
14. Female (unaffected)
Y-Linked Inheritance 15. Affected Male
• A condition is considered Y-Linked if 16. Male (unaffected)
the mutated gene that causes the 17. Mating
disorder is located on the Y 18. Consanguineous Mating
19. Offspring (Arrow points to proband)
Chromosome, one of the two sex
20. Bonus
chromosomes in each of a male's cells. Expected Expected
Because only males have a Y Cross Genotype/s Phenotype/s
chromosome, in Y-linked inheritance, a 21. DDxDd 50%DD, 100%
mutation can only be passed from father 50%Dd Dominant
to son. 22. DDxdd 100% Dd 100%
Dominant
23. DdxDd 25% dd, 50% 75%
Dd, 25% DD Dominant,
25%
 Recessive
24. Ddxdd 50% Dd, 50% 100 %
dd Dominant