Human Variation Observing Human Traits lab 1

Objectives - Upon completion of this activity, you should be able to:

• discuss the relationship of dominant versus recessive alleles.
• list examples of autosomal, sex-linked, sex-influenced and polygenic traits.
• appreciate the wide range of human variation in the traits observed.
• discuss the limitations of the word "normal” in reference to genetics.

Introduction

How often do you hear someone say, “I wish my hair was straight” or “I wish I didn’t
have these freckles”. Hair texture and skin pigmentation are examples of inherited traits,
while straight hair and freckles are possible phenotypes for those traits. Your phenotype
(description of the trait) is determined by your genotype (genes inherited from your
parents). Thus the presence of spots of brown pigment on the skin (phenotype = freckles)
is dominant (genotype = FF or Ff) to the absence of spots of brown pigment.

Since we can’t see your genes, geneticists assign symbols F or f to represent the alternate
forms, or alleles, that can occur for any given trait. By convention, a capital letter (F),
representing a dominant allele, is used to symbolize the phenotype or characteristic
which is expressed if it is present while a lower case letter (f), representing a recessive
allele, is used to symbolize the phenotype or characteristic which is masked or hidden if
the dominant form is present.

With this in mind, describe the phenotype and symbolize the genotype for someone who
has no spots of brown pigment on their skin.

Phenotype

Genotype

In this activity we will work together to observe some of the more obvious and simple to
observe human traits, learn more about their mode of inheritance and determine if
dominant characteristics are more common than recessive characteristics. Work with a
partner to determine phenotypes and possible genotypes for the following traits. Record
the data in Table 1. Work as a class to determine the percentage of individuals who
display the dominant phenotype.
Table 1. Some Inherited Traits That Demonstrate Human Variation

Mendelian Trait Personal Phenotype Possible #Dominant: %

Genotypes #Recessive Dominant

Freckles - dominant (F)

Dimples - dominant (D)

Cleft Chin - dominant (C)

Tongue Muscles
rolling - dominant (R)
Number of Fingers
six fingers - dominant(S)
Eye Color
dark eyes - dominant (D)
Earlobes
free earlobes - (F)
Hair Color
red hair is recessive (aa)
Widow’s Peak
hairline that forms a V is
dominant (W)
Hitchhiker’s Thumb
bending at 900 angle is
dominant (H)
Hand Clasping
left thumb over right (L)
Colorblindness
seeing color - XC

Measurable Traits Personal Range in Class Class

Measurement Average

Height in centimeters (cm)

Length of foot (cm)

Distance from elbow to

wrist

Pulse (beats/minute)

Sex
Name

Human Variation Activity

Analysis Questions - Refer to Table 1 when answering the following questions. Answers should be as
complete and specific as possible.

1. Are the following phenotypes dominant or recessive?

Cleft Chin Tasting PTC

Six Fingers Red Hair

2. Are the dominant phenotypes listed in question 1 common or uncommon? In other words, do dominant
characteristics occur more often than recessive characteristics? Explain your answer.

3. Give an example for each of the following modes of inheritance.

Autosomal Dominant

Autosomal Recessive

Sex-Linked

Sex-Influenced

Polygenic

Behavioral Trait

4. Describe two differences between Mendelian and quantitative or polygenic traits.

5. Which of the traits in this activity are most strongly influenced by environment?

6. Which of the following would you consider to be "normal"? (circle one in each pair)

freckles - no freckles attached earlobes - free earlobes

five fingers - six fingers slow pulse - fast pulse
red hair - dark hair left thumb over right -- right thumb over left

7. What is normal? Use the back to discuss the meaning of this word, how it is used and abused, and what
it means in terms of human variation.