Biology 103 Laboratory Exercise – Observing Human Phenotypes

Introduction

A zygote receives 23 pairs of chromosomes when the gametes unite at fertilization. One
of each pair is inherited from the father and the other from the mother. Thereafter, during
cell division, each body cell receives copies of these chromosomes. Twenty-two pairs of
the chromosomes are autosomes and one pair is the sex chromosomes.

Chromosomal inheritance has a marked effect on the general anatomy and physiology of
an individual. Genes, the units of heredity that control specific characteristics, are
arranged in a linear fashion along the chromosomes. Alternate forms of a gene having the
same position (locus) on a pair of chromosomes and affecting the same trait are called
alleles. Just as we inherit pairs of chromosomes, so we inherit pairs of alleles, alternate
forms of a gene.

There are a significant number of traits that have little or no effect on our success as
individuals or as a species. The traits we will be looking at today belong to this group;
they have little significance in making us better or worse individuals but they to make us
more interesting by making us more diverse. You will be looking at these traits in
yourselves and trying to determine your genotype for each trait, generally in terms of
dominant or recessive, although occasionally you will be able to determine if you are
heterozygous. Work with your neighbor as your partner. For some of the traits you will
need to make measurements on each other.

Determining Your Genotype and Phenotype

Students should work this exercise in pairs. Each student should record his/her work on
their own checklist, however, there is space for two students to record their data on the
same checklist. Have each student record his/her name in either Column A or B on the
front and back of the checklist.

Read through the human phenotypes descriptions and decide your particular phenotype
for a trait.

For some of the traits, measurements (mm.) will need to be made.

1. Shape of the face.

Most facial characteristics are affected by polygenic inheritance. For this trait we have
simplified the trait and will assume it is the result of a single gene. Oval shape is
dominant (needs only one dominant allele in a pair for the trait to be expressed). The
genotype is either homozygous (both alleles are the same, either dominant or
recessive) or heterozygous (one dominant allele and one recessive allele). Square
shape is recessive (requires that both alleles are the recessive allele in the pair for the
trait to be expressed). The genotype is homozygous.

2. Cleft in the Chin

This trait has been well documented. Absence of a cleft is dominant and may be either
homozygous or heterozygous. The presence of a cleft is recessive and represents a
homozygous condition.

3. Hair Curl

Curliness of hair is probably polygenic. To simplify we will assume it is the product of

incomplete dominance of alleles of a single gene. Curly is homozygous. Wavy is
heterozygous. Straight is homozygous.

4. Hairline

A slight dip in the center of the hairline is called a widow’s peak. A widow’s peak is
dominant and may be either homozygous or heterozygous. A straight hairline is
recessive and homozygous.
5. Eyebrow Shape

Eyebrows separated by a patch of bare skin is dominant, homozygous, or heterozygous.

Eyebrows joined by a line of hairs is recessive and homozygous.

6. Eyebrow Size

Broad eyebrows are dominant and are either homozygous or heterozygous. Bushiness
increases with age. Slender eyebrows are recessive and homozygous.

7. Eyelash Length

Long eyelashes are dominant and homozygous or heterozygous. Short eyelashes are
recessive and homozygous.

8. Dimples

Dimples are dominant and homozygous or heterozygous. Absence of dimples is recessive and
homozygous.
9. Size of Nose

Nose size is probably polygenic. For simplicity, we will assume it is the result of
incomplete dominance of two alleles of a single gene. Large is more than 38% of face
length and homozygous. Medium is about 1/3 of face length and heterozygous. Small is
less than 31% of face length and homozygous.

10. Size of Ears

Ear size is probably polygenic. We will assume it is the result of incomplete dominance of
one pair of alleles of a single gene. Large ears are 38% or more of the face length and
homozygous. Medium sized ears are about 1/3 of the face length and heterozygous. Small
ears are 31% or less of face length and homozygous.

11. Earlobes

Definite free earlobes are dominant and homozygous or heterozygous. Attached earlobes are
recessive and homozygous.

12. Width of Mouth

Several factors govern mouth width, but we will assume it is the product of the incomplete
dominance of a pair of alleles of a single gene. A wide mouth is 95% or more of interpupillary
distance and is homozygous. A medium mouth is 70%-90% of interpupillary distance and is
heterozygous. A small mouth is 65% or less of interpupillary distance and is homozygous.
Try not to smile when being measured.
13. Eye Shape

For the purposes of the lab assume that almond eye shape is dominant and homozygous or
heterozygous. Round eyelid openings are recessive and homozygous. Remember, we are
considering the openings only, not the eyeballs themselves, which are round.

14. Eye Spacing

Eyes are considered close together if the distance between them is less than the eye width,
corner to corner. We will assume that close eye spacing is homozygous. Medium spacing
is defined as being equal to the eye width and is heterozygous. Wide eye spacing is
defined as being greater than the eye width and is homozygous.

15. Eye Size

We will assume that eye size is the result of incomplete dominance of a pair of alleles
of a single gene. Large eyes (>30mm, corner to corner) are homozygous. Medium
eyes (26-30mm, corner to corner) are heterozygous. Small eyes (<26mm, corner to
corner) are homozygous.

16. Eye Slant

Horizontal eyes, corner to corner, is dominant and either homozygous or heterozygous. Slanted
eyes, outer corners up, is recessive and homozygous.
 17. Freckles on Cheeks

Freckles are dominant and homozygous or heterozygous. Lack of freckles is recessive and
homozygous.

18. Tongue Rolling

The ability to roll the tongue, side edges up, is a dominant trait and is either homozygous or
heterozygous. The inability to roll the tongue is recessive and homozygous.

19. Tongue Folding

The ability to fold the tip of the tongue backwards, without touching the roof of the mouth, is
recessive and homozygous. The inability to fold the tongue as described is dominant and is either
homozygous or heterozygous.

20. Mid-digital Hair

The presence of hair on the back of the middle joint of the fingers is dominant and is
either homozygous or heterozygous. The absence of hair on the back of the middle joint of
the fingers is recessive and homozygous. You will need to look carefully as the hair can
be very fine, particularly in women.
21. Hitch-hiker’s Thumb

A thumb that is straight when fully bent back is dominant and is either homozygous or
heterozygous. A thumb in which the distal segment (furthest from the hand) forms an angle
with the proximal segment is recessive and homozygous.

22. Bent Little Finger

In the dominant condition the center line of the distal segment of the little finger bends slightly
towards the ring finger. It is either homozygous or heterozygous. A perfectly straight little
finger is recessive and homozygous.

23. Interlaced Fingers

Fold your hands together, interlacing the fingers. Now look at your thumbs. Left over right is
dominant and either homozygous or heterozygous. Right thumb over left is recessive and
homozygous.

24. Hair on the Back of the Hand

Hair on the back of the hand is dominant and either homozygous or heterozygous. Hairless
hands are recessive and homozygous.
25. Palmar Tendons
Clench the fist tightly and flex the hand. Feel the tendons in the wrist. You should be able to
distinguish two, perhaps even three. Do this for both wrists. One wrist might have two tendons,
the other three. Two tendons in both wrists is dominant. It is either homozygous or
heterozygous. The appearance of a third tendon, even in just one wrist, is recessive and
homozygous.

26. Red- green color vision

Red-green colorblindness is recessive and sex-linked. The gene is found on the X
chromosome. If you are male, you have only one gene for this trait. Whether you have normal
vision or are red-green colorblind you will pass your gene along to your daughters. If you are
female, you have two genes for this trait. Females with normal vision can be either
homozygous normal or heterozygous. If you are a carrier for colorblindness you can pass on
the gene. If you are a female with red-green colorblindness, you are homozygous for the trait.
All of your sons will be colorblind. All of your daughters will be carriers, if your spouse has
normal vision.

27. Hair color

Hair color is extremely variable and it is most likely polygenic. For this portion of the lab,
let’s simply consider that dark colored hair (black or brown) is dominant, homozygous or
heterozygous. Light colored hair (blonde or red) is recessive, homozygous.

28. Red hair Color

Similar to the previous portion of the lab, we’ll stick with hair color generalities. Any color
hair other that red (black, brown, or blonde) is dominant, homozygous or heterozygous. Red
hair color is recessive, homozygous.

29. Iris pigmentation

Iris pigmentation or eye color surrounding the pupil of the eye is a polygenic trait, but for this
exercise we’ll consider that the presence of pigment (black, brown, green, or hazel eye
colors) around the iris is dominant, homozygous or heterozygous. The absence of
pigmentation around the iris (blue eye color) is recessive, homozygous.
30. Skin pigmentation
The presence of melanocytes (produce varying shades of black, brown, or white
pigmentation) within the epidermis is dominant, homozygous or heterozygous. The
absence of melanocytes or pigmentation produces a condition known as albinism (lack of
pigmentation) which is recessive, homozygous.

31. Long Ring Finger

Place your hands flat – palms down- on the lab table. Observe your index fingers and your
ring fingers. If on either hand your ring finger is longer than your index finger, you
possess the dominant gene for this trait. Dominance can be expressed as homozygous or
heterozygous. If your index fingers and ring fingers are approximately the same height
you possess the recessive gene. Recessiveness would be homozygous.

32. Immunity to Poison Ivy

Immunity to poison ivy is dominant, homozygous or heterozygous. Susceptibility, or no

protection, to poison ivy is recessive, homozygous.

33. Long Second Toe

Take a look at your feet. A second toe longer than the big toe is dominant, homozygous or
heterozygous. A shorter second toe than the big toe is recessive, homozygous.
34. Polydactyly

Have extra digits either on hands or feet is dominant, homozygous or heterozygous. Having
the normal 10 fingers and 10 toes is recessive, homozygous.

35. Lactose intolerant

The production of the enzyme which aids in lactose digestion is recessive, homozygous
whereas the non-production of the enzyme is dominant, homozygous or heterozygous.

36. Webbed Digits

Having fused or webbed finger or toe digits is dominant, homozygous or heterozygous.

Having normal digits is recessive, homozygous.

37. Ski Tongue

The ability to extend the tongue from the mouth and touch the nose is recessive,
homozygous. Normal extension of the tongue from the mouth is dominant, homozygous
or heterozygous.
38. Roman Nose

A Roman nose (a nose that curves out near the top at the bridge) is dominant, homozygous
or heterozygous. A straight or Grecian nose (a nose that comes down almost straight from
the forehead) is recessive, homozygous.

39. Hairy Ears

The presence of hair on the pinna of the ear or eminating from the ear canal is recessive,
homozygous. Absence of hair on the ears is dominant, homozygous or heterozygous.

40. Nostril Shape

Rounded Flared
Rounded nostril shape is dominant, homozygous or heterozygous. Flared nostril shape is
recessive, homozygous.

41. Darwin’s Ear Points

The presence of Darwin points is recessive, homozygous. Ears with no points are dominant,
homozygous or heterozygous.
42. Witch’s fingers
The ability to keep the proximal and middle phalanx straight and bend the distal
phalanx. (keep the 1st two finger joints straight, and bend tip of finger).
Observing Human Phenotypes Checklist
# Characteristic Phenotype A B
1 Shape of face Oval shape
Square shape
2 Cleft chin Cleft chin
Smooth chin
3 Hair curl Curly
Wavy
Straight
4 Hairline Widow’s peak
Straight
5 Eyebrow shape Separated
Joined
6 Eyebrow size Broad
Slender
7 Eyelash length Long
Short
8 Dimples Present
Absent
9 Size of nose Large
Medium
Small
10 Size of ears Large
Medium
Small
11 Earlobes Free
Attached
12 Mouth width Wide
Medium
Small
13 Eye shape Almond
Round
14 Eye spacing Close
Medium
Wide
15 Eye size Large
Medium
Small
16 Eye slant Horizontal
Corners up
17 Freckles on cheeks Present
Absent
18 Tongue rolling Ability
Inability
19 Tongue folding Ability
Inability
20 Mid-digital Present
Hair Absent
21 Hitch-hiker’s Straight
thumb Angled
22 Bent little finger Bent
straight
# Characteristic Phenotype A B
23 Interlaced fingers Left over right
Right over left
24 Hair on back of Hair
hand Hairless
25 Palmar tendons Two
Three
26 Red-green color Color
vision Colorblind
27 Hair color Dark
Light
28 Red hair color Non-red
Red
29 Iris pigmentation Present
Absent
30 Skin pigmentation Present
Absent
31 Long ring finger Longer
Same length
32 Immunity to poison Immune
ivy Non-immune
33 Long second toe Longer
Shorter
34 Polydactyly Extra digits
Normal
35 Lactose intolerant Enzyme present
Enzyme absent
36 Webbed Webbed
digits Normal
37 Ski tongue Present
Absent
38 Roman nose Curved
Straight
39 Hairy ears Present
Absent
40 Nostril shape Rounded
Flared
41 Darwin’s ear points Present
Absent
42 Witch’s fingers Ability
Inability
For review

Overall phenotypically, were you more dominant or more recessive?

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Which of the genetic traits were the most surprising to you in regards to the trait being
dominant or recessive?
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Which of the genetic traits did you find the most “odd?”
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