General Biology 2

Lesson 1: Pedigree Analysis

Learning Objectives:
• Identify the mode of inheritance of a particular trait given the pedigree;
• Predict the genotypes of parents;
• and compute the probability of occurrence of an affected offspring in a given cross.
Activity 1
Research about these words and create a definition of terms from them using what you understand.
Keep it short but with important/significant details and in your own words.
• Pedigree
• Proband
• Law of Segregation
• Law of Independent Assortment
• Autosomal trait
• Autosomal dominant
• Autosomal recessive
• Genotype
• Homozygous dominant
• Heterozygous
• Homozygous recessive
• Phenotype
• Dominant phenotype
• Recessive phenotype
• Phenocopy
• Identical Twins
• Fraternal Twins
Pedigree
- it is the means making use of diagrams to show the ancestral relationships and transmission of certain
genetic traits over several generation of family.
- Use of correct labels, legends and symbols are vital to properly convey them.
Uses of Pedigree Analysis
• Describe the mode of inheritance of a trait
• Calculate the probability of occurrence an affected offspring in a given cross
Mode of Inheritance
- We will mostly consider five major types of inheritance:
• autosomal dominant (AD)
• autosomal recessive (AR)
• X-linked dominant (XD)
• X-linked recessive (XR)
• Y-linked (Y).
- Females are the ones that pass off only the X chrosome to their children while males are the ones that
can pass off both the X and Y chromosome.
- Humans’ 23rd pair of chromosomes can only be XX(female) or XY(male).
Proband
- it is the individual in the pedigree that led to the construction of the pedigree. e.g. A couple consults a
medical geneticist because they have an offspring who is afflicted with a disease and they want to find
out the mode of transmission of this disease. When the geneticist constructs the pedigree, the offspring
will be labeled as the proband. Through the pedigree, the probability of having other affected children
may be determined.
- to show their importance they are either labeled as such or shaded or pointed by an arrow symbol.

Autosomal Traits
- A trait whose alleles that control it are found in the autosomes (body chromosomes/ non-sex
chromosomes)
- There are two types of chromosomes: the X and Y are the sex chromosomes (the 23 rd pair); all the
other (22 pairs) chromosomes are called autosomes.
-If a trait is autosomal, it just means it is not on a sex chromosome.
Autosomal Dominant
-"Dominant" means that a single copy of the trait/mutation is enough to cause the change/disease.
- Two affected individuals can have a normal offspring

Autosomal Recessive
- For autosomal recessive genes, you need one copy of the same gene from each parent for the trait or
condition to be expressed in your genes. If just one parent passes on a gene for a recessive trait, such as
red hair, or condition, such as cystic fibrosis, you’re considered a carrier and will not show the
trait/symptom.
- Two affected individuals can NEVER have a normal offspring

Genotype
- The gene pair an individual carries for a particular trait symbolized with a pair of letters. By convention,
uppercase letter (eg. A) for a dominant allele and lowercase letter (eg. a) for the recessive allele. Any
letter in the alphabet may be used.
-For a diploid organism with two alleles in a given gene pair, genotypes may be written as:
• Homozygous dominant, i.e. with two dominant alleles (DD)
• Heterozygous, i.e. with a dominant and recessive allele (Dd). The individual will show the
dominant phenotype.
• Homozygous recessive, i.e. with two recessive alleles (dd)
Phenotype
- The observable trait of an individual based on its genotype. Examples: red flower, curly hair, blood
types ( i.e. the blood type is the phenotype)
- For a typical Mendelian trait, phenotypes may either be:
• Dominant. A trait that requires at least one dominant allele for the trait to be expressed, e.g. Dd
= expressed,
DD = expressed,
dd = not expressed.
• Recessive. A trait that requires two recessive alleles for the trait to be expressed.
e.g. dd = expressed
Dd = not expressed
DD = not expressed
Phenocopy
- A trait that is expressed due to specific environmental conditions (i.e. having hair that is dyed of a
different color) and is not due to the genotype.
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 zygotes; also known as dizygotic twins.
- Fraternal twins may be of the same or different sexes. They share half of their genes just like any other
siblings.

Mendel’s laws of heredity

-refers to biological concepts of heredity first uncovered by the Austrian monk Gregor Mendel, who lived
in the early 1800s. Mendel conducted experiments crossing various sizes and colors of pea plants and
recording the outcomes of these crosses – revolutionized the understanding of heredity. Taken together,
his laws make up the principles of Mendelian inheritance.

Mendel’s Punnett Square

- is a table that shows all the possible combination of alleles that can result when two organisms cross.

Example of a Punnett Square

Mendel’s First Law – The Law of Segregation

- For every trait governed by a pair of alleles, these alleles segregate or separate during gamete
formation in meiosis
- parental genes for a trait must segregate (separate) equally and randomly into haploid gametes so that
their offspring have an equal chance of inheriting either allele. This is what happens during meiosis.

Mendel’s Second Law – The Law of Independent Assortment

- A pair of alleles for one trait will segregate or separate independently of another pair of alleles for
another trait during meiosis
- Mendel’s second law says that alleles for traits are passed on independently of each other. To put it
another way, the selection of an allele for a trait has nothing to do with which allele is selected for a
different trait.

Mendel’s Third Law – The Law of Dominance

- known as simple dominance, Mendel’s third law means that for the two alleles of a gene, the dominant
allele is always expressed because it masks the recessive allele. Recessive traits are only seen when both
alleles are recessive.

In this figure, the peas have green pods (R) even if they have one allele for yellow pods (r); i.e., RrYy,
RrYY.
To have yellow pods, the peas must be homozygous recessive (rr) for the trait. The same is true for the
dominant trait of rough pods (Y) and recessive smooth pods (y). The pods are only smooth if they are
homozygous recessive (yy).
Non-Mendelian Inheritance
- There are patterns of inheritance in sexually reproducing organisms that don’t follow the principles of
Mendelian inheritance. e.g. incomplete dominance results when two dominant traits “blend” to create a
third phenotype. This is seen when a plant with red flowers is crossed with a plant with white flowers,
resulting in plants with pink flowers.
- Codominance occurs when two dominant alleles are expressed in the phenotype, such as a chicken
with black feathers and a chicken with white feathers having offspring with black and white feathers.
Sample Problems:
1.
A. Look at the family of IV-9 and IV-10. If the trait is dominant, is it possible for them to have an affected
offspring?
Answer: NO. If the trait is dominant, then unaffected individuals are homozygous recessive. Two
recessive individuals CANNOT produce a dominant offspring.
B. If the trait is recessive, is it also possible for IV-9 and IV-10 to have an unaffected offspring?
Answer: YES. This can happen if both parents are heterozygous for the trait, which means they can each
give a recessive allele to produce a homozygous recessive offspring.
C. Based on your answers for A. and B, is the trait dominant or recessive?
Answer: RECESSIVE
D. Give the genotypes of the following:
• IV-9 (Answer: Dd)
• IV-10 (Answer: Dd)
• V-1 (Answer: DD or Dd)
• I-1 (Answer: dd)
• I-2 (Answer: Dd)
E. If IV-9 and IV-10 were to have another child, what is the probability that they will have an affected
offspring?
Answer: 1/4 or 25% following the Mendelian ratio from a hybrid cross
2. In guinea pigs, rough coat (R) is dominant over smooth coat (r).
• Predict the genotype and phenotypic ratios if a homozygous dominant guinea pig is crossed with
a heterozygous guinea pig
Answer:

Homozygous
guinea pig
 Alleles R R
Heterozygous R RR RR
guinea pig r Rr Rr
The guinea pigs will have 100% chance to have offspring with rough coats and 0% to have smooth coats
Activity 2
1. In pea plants, spherical seeds (S) are dominant to dented seeds (s).
• Make a punnett showing the genetic cross of two heterozygous seeds.
• What are the chances that their offspring will have spherical seeds?
• What are the chances they will have dented seeds?
2. The gene for tall (T) is dominant over dwarf (t) in the garden pea.
• Make a Punnett square showing the genetic cross of a heterozygous tall garden pea and a dwarf
garden pea.
• What are the chances that their offspring will be tall?
• What are the chances they will be short?
3.
A. Is this trait dominant or recessive?
B. What are the most probable genotypes of I-3 and I-4?
C. What are the most probable genotypes of II-4 and II-5?
D. What is the probability that II-4 and II-5 will have another normal offspring?
4.
A. Is the trait dominant or recessive
B. What are the most probable genotypes of I-2 and I-3?
C. What is the probability that II-2 is Dd?
D. What is the probability that II-1 and II-2 will have another normal offspring?
-END-