Human Genetics - Phenotype and Genotype

Human Genetics - Phenotype and Genotype

Exercise 1: Observing Phenotype Characteristics

Data Table 1: Phenotype and Genotype

Trait / Phenotype Characteristics / Phenotype & Genotype from Parent 1 / Phenotype & Genotype(s) from Parent 2 / Offspring
Dimpled Chin
/ /
Free ear lobe
/ /
Ability to taste PTC strips / /
Interlocking fingers
/ /
Mid-digital hair / /
Bent little finger
/ /
Window's peak
/ /
Hitchhiker's thumb
/ /
Blue or green eyes
/ /
Rolled tongue
/ /

Punnett Squares

Example: As described in Data Table 1, Parent 1 has the genotype Dd for the dimpled chin gene. If the recorded genotype for Parent 2 was dd, the Punnett Square would appear as follows. From this, the phenotypic and genotypic ratios may be deduced.

IMPORTANT: Two blank Punnett squares are provided for each trait. If Parent 2 has a dominant phenotype, then you will create two Punnett squares; if Parent 2 has a recessive phenotype, then you will create one Punnett square.

Dimpled
Chin / Parent 1
Parent 2
Dimpled Chin / Parent 1
Parent 2
Free Ear Lobe / Parent 1
Parent 2
Free Ear Lobe / Parent 1
Parent 2
Ability to Taste PTC Strips / Parent 1
Parent 2
Ability to Taste PTC Strips / Parent 1
Parent 2
Interlocking Fingers / Parent 1
Parent 2
Interlocking Fingers / Parent 1
Parent 2
Mid-digital Hair / Parent 1
Parent 2
Mid-digital Hair / Parent 1
Parent 2
Bent Little Finger / Parent 1
Parent 2
Bent Little Finger / Parent 1
Parent 2
Widow’s Peak / Parent 1
Parent 2
Widow’s Peak / Parent 1
Parent 2
Hitchhiker’s Thumb / Parent 1
Parent 2
Hitchhiker’s Thumb / Parent 1
Parent 2
Blue or Green Eyes / Parent 1
Parent 2
Blue or Green Eyes / Parent 1
Parent 2
Rolled Tongue / Parent 1
Parent 2
Rolled Tongue / Parent 1
Parent 2

Human Genetics - Phenotype and Genotype

Exercise 2: Genetic Screening – Phenotype and Genotype

Data Table 2: Karyotype for Chromosomal Disorder 1

Karyotype
1 / 2 / 3 / 4 / 5 / 6 / 7 / 8
9 / 10 / 11 / 12 / 13 / 14 / 15 / 16
17 / 18 / 19 / 20 / 21 / 22 / x / Y
Chromosomal Disorder 1:

Data Table 3: Karyotype for Chromosomal Disorder 2

Note that there are 2 chromosomes present at X.

Data Table 3: Karyotype for Chromosomal Disorder 2

Karyotype
1 / 2 / 3 / 4 / 5 / 6 / 7 / 8
9 / 10 / 11 / 12 / 13 / 14 / 15 / 16
17 / 18 / 19 / 20 / 21 / 22 / x / Y
Chromosomal Disorder 2:

Human Genetics - Phenotype and Genotype

Data Table 4: Karyotype to Genotype to Phenotype

# / Karyotype Image / Chromosomal Disorder / Genotype / Phenotype
1 /
2 /
3 /
4 /
5 /
6 /