CHAPTER 1: FROM GENE TO PROTEIN

Problem 1:
This is the sequence of the first exon of a gene (negative strand):
5’ T C C G C A C A G G G T T C C C C A A T G C A T T T T C C T 3’
Write the complementary DNA sequence (positive strand).
Determine the mRNA and peptide sequences encoded by this gene exon.
Make a solution for ex in here

- DNA: Positive strand: 5’ → 3’

Negative strand: 3’ → 5’
- If negative strand alone: 5’ → 3’
- Start codon: 5’ AUG 3’
- Stop codon: 5’ UAA 3’; 5’ UAG 3’; 5’ UGA 3’
- 3 nucleotide continuous in mRNA → 1 codon → 1 amino acid

-
Negative strand: 3’ TCCTTTTACGTAACCCCTTGGGACACGCCT 5’
Positive strand : 5’ AGGAAAATGCATTGGGGAACCCTGTGCGGA 3’
mRNA: 5’ AGGAAA AUG CAU UGG GGA ACC CUG UGC GGA3’
Peptide: Met – His – Trp – Gly – Thr – Leu – Cys - Gly

Problem 2:

The following sequence is located at the beginning of a gene.

The underlined part corresponds to an intron, which flanks two exons.

ATTAGCCATGCTCTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGGATG
ATTGT…

Determine the sequence of the corresponding mRNA and peptide.

- The mRNA precursor: Exon and intron

- The mature mRNA: Only exon

Positive strand: 5’ ATTAGCCATGCTCTCCGTCCCAACTGATGATTGT 3’

mRNA: 5’ AUUAGCC AUG CUC UCC GUC CCA ACU GAU GAU UGU 3’

Peptide: Met – Leu – Ser – Val – Pro – Thr – Asp – Asp – Cys

Problem 3:
The following sequence (positive strand) is located in the middle of a bacterial gene:

CTCTCCGTCCCAACTGATGATTGT

What are the possible peptides corresponding to this sequence?

Positive strand: 5’ CTCTCCGTCCCAACTGATGATTGT 3’

mRNA: 5’ CUC UCC GUC CCA ACU GAU GAU UGU 3’

 Peptide: Leu – Ser – Val – Pro – Thr – Asp – Asp – Cys

Problem 4:
Write the 3 possible correct codes for the following polypeptides (Multiple answers
several codons code for different amino acids),

a. Leu – Val – Cys – Lys - Stop

5’ CUU GUA UGU AAA UAA 3’

5’ CUC GUC UGU AAG UGA 3’

5’ CUG GUU UGC AAG UAA 3’

b. His – Met – Ser – Thr – Stop

5’ CAC AUG AGC ACA UAG 3’

5’ CAU AUG AGU ACG UAA 3’

5’ CAC AUG AGU ACA UGA 3’

Problem 5:
Here is the sequence of a gene:

PROMOTER:

TTCCCTAGATAGAGATACTTTGCGCGCACACACATGCAAACGCGCGCAAA
AAGGAAAGCCCACCTATAAACTCCAGCCGCAAAGAGAAAACCGGAGCAG
CCGCAGCTC

EXON 1:

ACCTGGCCGCGGGGCGGCGCGCTCGATCTACGCGTCCGGGGCCCCGCGGG
GCCGG

GCCCGGAGTCGCCATG AAT CGC TGC TGG GCG CTC TTC CTG TCT CTC
TGC TGC TAC CTG CGT CTG GTC AGC GCC GAG

INTRON 1:
 GTGAGTTGCCACGGCGGCATGCAGTGGTTCGCCCCTTTTGGTGTCTGCCCG
GCAG

EXON 2:

GGG ACC CCA TTC CCG AGG AGC TTT ATG AGA TGC TGA
GTGACCACTCGATCCGCTCCTTTGATGATCTCCAACGCCTGCTGCACGGAGA
CCCCGGA

INTRON 2:

GTAAATGGAATCCTCGCCCCGCGCTCCGGCCCTCCGAGGAGGTGGG
GCCGCCTGGTGTCTGACTGTGACTTCTCCTGCAG

EXON3:
AGGAAGATGGGGCCGAGTTGGACCTGAACATGACCCGCTCCCACTCTGGA
GGCGAGCTGGAGAGCTTGGCTCGTGGAAGAAGGAGCCTGG

a) Where does transcription start?

b) What is the sequence of the messenger RNA precursor and the mature messenger RNA?
c) Where does translation start and what is the peptide sequence (first ten residues)?
d) Where does translation stop?

- The mRNA precursor: Exon and intron

- The mature mRNA: Only exon

a) The transcription starts at the first nucleotide of exon 1

b) The mRNA precursor: Exon 1 + Intron 1 + Exon 2 + Introm 2 + Exon 3

The mature mRNA: Exon 1 + Exon 2 + Exon 3

The translation starts at exon 1

The peptide sequence (first ten residues)

DNA: 5’ ATGAATCGCTGCTGGGCGCTCTTCCTGTCTCTC 3’
 mRNA: 5’ AUG AAU CGC UGC UGG GCG CUC UUC CUG UCU CUC 3’

Peptide: Met – Asp – Arg – Cys – Trp – Ala – Leu – Phe – Leu – Ser – Leu

c) Translation stop at Exon 2

Problem 6 :
A somatic cell that has 2n=24 chromosomes undergoes mitosis 5 times continuously. Please
calculate:

- The number of cells after the whole process?

- The number of chromosomes the environment provided to the whole process?

- x mother cell in mitosis k time → The number of cells after the whole process = x.2k

- The number of chromosomes that the environment provides to the mitosis = x.(2k - 1). (2n)

- The number of cells after the whole process = 1. 25 = 32 (cells)

- The number of chromosomes that the environment provides to the whole process = 1. (25 –
1). 24 = 744 (chromosomes)
Problem 7:
Complete the following table:

Nucleotide Components and Function

Nucleic Acid Type DNA mRNA tRNA

Name of the sugar Deoxyribose sugar Ribose sugar Ribose sugar

present in
nucleotides

Name of bases A, T, G, C A, U, G, C A, U, G, C
present in
(Adenine, (Adenine, Uracil, (Adenine, Uracil,
nucleotides
Thymine, Guanine, Cytosine) Guanine, Cytosine)
Guanine,
Cytosine)

Function Store all of the Formed through Transfers amino

genetic transcription and acids and
information conveys genetic deciphers mRNA
information from to synthesize
DNA to ribosomes polypeptide chains
in the ribosome

Where can you find Nucleus Nucleus Nucleus

each of these in a
Mitochondria Mitochondria Mitochondria
eukaryotic cell?
Chloroplast Cytosol (Free Cytosol (Free
ribosome) ribosome)

ER rough ER rough
 CHAPTER 2: GENE VARIANTS & POLYMORPHISMS
Problem 1:
This is the sequence of the first exon of a mouse gene.

CGGGCACCATGAGCGACGTGGCTATTGTG…

a) What would be the consequence of deleting the boxed nucleotides? Please write down the
protein sequences before and after the mutation.

b) What would be the expected impact of this deletion on the protein function?

a) Before DNA: 5’ CGGGCACCATGAGCGACGTGGCTATTGTG 3’

After DNA: 5’ CGGGCACCATGAGCCGTGGCTATTGTG 3’
Before mRNA: 5’ CGGGCACCAUG AGC GAC GUG GCU AUU GUG 3’
After mRNA: 5’ CGGGCACCAUG AGC CGU GGC UAU UGU G 3’
Before protein: Met – Gly – Asp – Val – Ala – Iso - Val
After protein: Met – Gly – Arg – Gly – Tyr – Cys

b) This deletion might be changed or lost protein function because of an altered amino acid
sequence. This often disrupts the biochemistry process in the cell

Problem 2:
The following sequence is located at the beginning of a gene.

The underlined part corresponds to an intron, which flanks two exons.

ATTAGCCATGCTCTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGGATG
ATTGT…

What would be the expected impact of the following mutations:

a) ATTAGCCATGCTGTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGG
ATGAT…
C to G
b) ATTAGCCATGCTCTCCGTCCCAACTGTAAGTATGAACGAGATCGTTACCAGG
ATGAT…
CG to AA

c) ATTGGCCATGCTCTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGGA
TGAT…
A to G

a) ATTAGCCATGCTGTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGG
ATGAT…
C to G
Before mutation DNA: CTC → mRNA: CUC → Amino acid: Leu
After mutation DNA: CTG → mRNA: CUG → Amino acid: Leu
➔ There is no change in the amino acid sequence.

b) ATTAGCCATGCTCTCCGTCCCAACTGTAAGTATGAACGAGATCGTTACCAGG
ATGAT…
CG to AA
The mature RNA only has exon
➔ There is no change in the amino acid sequence because the mutation in intron

c) ATTGGCCATGCTCTCCGTCCCAACTGTAAGTATGCGCGAGATCGTTACCAGGA
TGAT…
A to G
The mutation in exon before the first codon 5’AUG3’ which is start translation
➔ There is no change in the amino acid sequence
Problem 3:
A research team sequenced a human gene and the corresponding mRNA. Here is the sequence
of the genomic DNA. The parts that are identical between the genomic DNA and the mRNA
are written using uppercase letters.

agcgaaatttaatgagcgtgtaacaggggactgaaaatcctgatttctcaAGCTATCAAAGGTTTATAAAGCCA

del 1

ATATCTGGGAAAGAGAAAACCGTGAGACTTCCAGATCTTCTCTGGTGAAGTGTGT
TTCCTGCAACGATCACGAACATAAACATCAAAGGATCGCCATGGAAAGgtaagtgtga

del 2

caactcactgcgttggtggctcgcgttcttatgagctaagGGTCCCTCCTGCTGCTGCTGGTGTCAAACCT
GCTCCTGTGCCAGAGCGTGACCCCCTTGCCCATCTGTCCCGGCGGGGCTGCCCGA

del 3

TGCCAGGTGACCCTTCGAGACCTGTTTGACCGCGCCGTCGTCCTGTCCCACTACA
TCCATAACCTCTCCTCAGAAATGTTCAGCGAATTCgtaagtaccatgcttctggcttcctattgaatttgt

del 4

ctcatcatttccagGATAAACGGTATACCCATGGCCGGGGGTTCATTACCAAGGCCATCA
ACAGCTGCCACACTTCTTCCCTTGCCACCCCCGAAGACAAGGAGCAAGCCCAAC
AGATGAATgtgagtccttcatccaggctttgca

a) Which parts of that sequence correspond to exons, introns, and promoter?

b) What is the sequence of the peptide encoded by this gene (first ten residues)?
c) What will be the impact of each of the deletions indicated by boxed nucleotides on the
protein sequence and length?
- DNA: Promoter + Exon 1 + Intron 1 + Exon 2 + Intron 2 + Exon 3

a) Promoter: the first lowercase sequence

Exon: The uppercase sequence
Intron: The lowercase sequence except for the first lowercase
b) The sequence of the peptide encoded (First ten residues)
DNA: 5’ ATG GAA AGG GTC CCT CCT GCT GCT GCT GGT GTC 3’
mRNA: 5’ AUG GAA AGG GUC CCU CCU GCU GCU GCU GGU GUC 3’
Peptide: Met – Glu – Arg – Val – Pro – Pro – Ala – Ala – Ala – Gly - Val

c) What will be the impact of each of the deletions indicated by boxed nucleotides on the
protein sequence and length?
- Del 1: The mutation in promoter → The protein sequence and length don’t
change.
- Del 2: The mutation in exon before the start codon 5’AUG3’ → The protein
sequence and length don’t change.

- Del 3:
Before DNA: 5’… ATG GAA AGG GTC CCT CCT GCT GCT GCT GGT
GTC AAA CCT GCT CCT GTG CCA GAG CGT GAC CCC CTT GCC CAT
CTG TCC CGG … 3’

After DNA: 5’… ATG GAA AGG GTC CCT CCT GCT GCT GCT GGT
GTC AAA CCT GCC TGT GCC AGA GCG TGA CCC CCT TGC CCA TCT
GTC CCG G …3’

Before mRNA: 5’… AUG … CCU GCU CCU GUG CCA GAG CGU GAC … 3’

After mRNA: 5’… AUG … CCU GCC UGU GCC AGA GCG UGA C … 3’

Before peptide: Met - … - Pro – Ala – Pro – Val – Pro – Glu – Arg – Asp -…

After peptide: Met -…- Pro – Ala – Cys – Ala – Arg – Ala – (Stop)

➔ The protein function might change and the length of the protein sequence is
shorter than before the mutation
Problem 4:
a) Gene B has 390 Guanine and the total number of hydrogen bonds is 1670, is substitution
mutated in 1 pair of nucleotides to gene b. Gene b has 1 hydrogen bond more than gene
B. Calculate each type of nucleotide in gene b.
b) Gene X has 3600 hydrogen bonds and the number of nucleotide Adenine is equal to
30% of the number of nucleotide of the whole gene. Gene X is mutated type deletion 1
pair of nucleotide A-T to gene x.

A cell with heterozygote genotype Xx undergoes mitosis to 2 daughter cells. Please

calculate each type of nucleotide that the environment needs to provide to the process.

- The number of nucleotide: A = T; G = C

- Hydrogen bond: A= T; G ≡ C → H = 2A + 3G
- The total number of nucleotide: N = 2A + 2G

a) Gene B: Gene b (Mutation 1 pair of nucleotide):

GB = 390 (nu)
HB = 1670 (hydrogen bonds) Hb = HB + 1

• GB = 390 (nu) = CB
• HB = 2AB + 3GB = 1670 → 2AB + 3x390 = 1670 → AB = 250 (nu) = TB

• Hb = HB + 1 → Mutaion: Change 1 A - T to 1 G - C
• Gb = GB + 1 = 391 (nu) = Cb
• Ab = AB – 1 = 249 (nu) = Tb

b) Gene X: Gene x: (Deletion 1 pair of nucleotide A-T)

HX = 3600 (hydrogen bonds)
AX = 30% N
1 cell (Xx) –Mitosis→ 2 daugter cells

• Gene X:
AX = 30% N → GX = 20% N
HX = 2AX + 3GX = 2x30% N + 3x20% N = 3600 → N = 3000 (nu)
 AX = 30% N = 900 (nu)
GX = 20% N = 600 (nu)

• Gene x :
Ax = AX – 1 = 900 – 1 = 899 (nu) = Tx
Gx = GX = 600 (nu) = Cx

• Xx:
The nucleotide that the environment needs to provide to mitosis 1 time (stand
X):
AE X = TE X = 900 (nu)
GE X = CE X = 600 (nu)

The nucleotide that the environment needs to provide to mitosis 1 time (stand
x):
AE x = TE x = 899 (nu)
GE x = CE x = 600 (nu)

The nucleotide that the environment needs to provide to mitosis 1 time Xx:
AE + TE = AE X + AE x = AE X + TE x = 900 (X) + 899 (x) = 1799 (nu)
GE + CE = GE X + GE x = GE X + CE x = 600 (X) + 600 (x) = 1200 (nu)

Problem 5 :
a) A gene D has 4800 hydrogen bonds and the ratio of nucleotide number Adenine/Guanine =
1/2, is substitution mutated in 1 pair of nucleotides to gene d with 4801 hydrogen bonds.
Calculate each type of nucleotide in gene D and d.

b) Gene A with 3000 hydrogen bonds and the number of nucleotide Adenine is equal to
Guanine, is mutated to gene a. When gene a underwent DNA replication, the environment
provided 2398 nucleotides. Which kind of mutation that gene A had?
 a) Gene D: Gene d: (Mutation 1 pair of nucleotide)
HD = 4800 (hydrogen bonds) Hd = 4801 (hydrogen bonds)
𝐴𝐷 1
=
𝐺𝐷 2

• Hd = HD + 1 → Mutation: Change 1 A – T to 1 G – C (Mutation 1 pair of

nucleotide)

• Gene D:
𝐴𝐷 1
= → GD = 2 AD
𝐺𝐷 2

2AD + 3GD = HD → 2AD + 3x 2AD = 4800

→ AD = 600 (nu) = TD
→ GD = 1200 (nu) = CD

• Gene d:
Ad = AD – 1 = 599 (nu) = Td
Gd = GD – 1 = 1201 (nu) = Cd

b) Gene A Gene a:
HA = 3000 (hydrogen bonds) NEa = 2398 (nu) (1 time DNA replication)
AA = GA
• 2AA + 3GA = 2AA + 3AA = HA = 3000 → AA = TA = GA = CA = 600(nu)
• NEA = 600x4 = 2400 (nu)
NEa = 2398 (nu)
→ Lose 2 nu
→ Gene A mutation: Deletion 2 nucleotides

Problem 6:
This is the result of a paternity test of an alleged father (Jim Doe) and child (John). Please check if Jim
is biological father of John, in case yes, point out which allele the child inherited from the father.
 Y
14
16.3 or 17.3
17
9
10 or 16
12
13
23
10
9
6
15
29 or 30
11
11
9 or 11
13 or 14
18
14
18
➔ Jim is the biological father of John

Problem 7:
Using the genetic code table (attached), fill in the amino acid sequence starting with the first
ATG of the coding strand. It helps to mark off the codons by threes.

DNA (5')G G A T A G C A T G A A A C C C G C A T A A (3')

amino acid: Met – Lys – Pro – Ala - (Stop)

How would the amino acid sequence above change with the following changes (mutations) in
the DNA code (changes are marked in bold-face):

a. (5')G G A T A G C A T G A A A C C A G C A T A A (3') change to A

amino acid: Met – Lys – Pro – Ala - (Stop)

➔ No change protein

b. (5')G G A T A G C A T G A A A C C C C C A T A A (3') change to C

amino acid: Met – Lys - Pro – Pro – (Stop)

➔ Change protein function, not change the length of the protein

c. (5')G G A T A G C A T G A A A - C C G C A T A A (3') delete

amino acid: Met – Lys – Pro – His

➔ Change protein function and the length of the protein

d. (5')G G A T A G C A T G T A A C C C G C A T A A (3') change to T

amino acid: Met – (stop)

➔ No protein

Problem 8:
A diploid organism with 4000 spermatocytes undergoes meiosis to produce gametes. During
meiosis there are 40 cells with 1 pair of unseparated chromosomes in meiosis I, meiosis II took
place normally, the rest of the cells meiosis normally. Please indicate:

a) What is the percentage of non-mutated gametes?

b) What percentage of mutant gametes that have more 1 chromosome than normal?

c) What percentage of mutant gametes that have less 1 chromosome than normal?
 - 1 spermatocytes –Meiosis→ 4 sperm
1 Egg cell –Meiosis→ 1 egg

- 4000 spermatocytes –Meiosis→ 16000 sperm

- 3960 normal spermatocytes –Meiosis→ 3960x4 = 15840 (normal sprem)
- 40 mutation spermatocytes –Meiosis→ 80 (sperm mutation have more 1 chromosome than normal)
80 (sperm mutation have less 1 chromosome than normal)

a) The percentage of non-mutated gametes:

15840
𝑥 100% = 99%
16000
b) The percentage of mutant gametes that have more 1 chromosome than normal:
80
𝑥 100% = 0.5%
16000
c) The percentage of mutant gametes that have less 1 chromosome than normal:
80
𝑥 100% = 0.5%
16000

Problem 9:
In Drosophila (2n=8), an individual has two chromosomal structure mutations: a chromosome in the 1st
pair carries a deletion mutation, and a chromosome in the 3rd pair carries an inversion mutation. If the
meiosis process takes place normally, please calculate:

a. Percentage of the normal gametes?

b. Percentage of the gametes carry the deletion chromosome?

c. Percentage of the gametes carry both the deletion chromosome and the inversion chromosome?

a) The percentage of the normal gametes:

1𝑥2𝑥1𝑥2
𝑥 100% = 25%
2𝑥2𝑥2𝑥2
b) The percentage of the gametes that carry the deletion chromosome:
1𝑥2𝑥2𝑥2
𝑥 100% = 50%
2𝑥2𝑥2𝑥2
c) The percentage of the gametes that carry both the deletion chromosome and the inversion
chromosome:
1𝑥2𝑥1𝑥2
𝑥 100% = 25%
2𝑥2𝑥2𝑥2
 CHAPTER 3: MENDEL’S LAW
Problem 1:
Here are four pedigrees. The black symbols represent patients suffering from a rare disease that
is transmitted according to Mendel’s law.

a) For each family, determine whether the trait is dominant or recessive.

b) Determine the genotypes of the affected individuals and their parents.

- P : AA x AA
F1: 𝐴𝐴 → 100% AA

- P: aa x aa
F1: aa → 100% aa

- P : AA x aa
F1: 𝐴𝑎 → 100% Aa

- P : AA x Aa
1 1
F1: 2 𝐴𝐴 ∶ 𝐴𝑎 → 100% A_
2

- P : Aa x aa
1 1 1 1
F1: 2 𝐴𝑎 ∶ 𝑎𝑎 → 𝐴_ ∶ 𝑎𝑎
2 2 2

- P : Aa x Aa
1 2 1 3 1
F1: 4 𝐴𝐴 ∶ 𝐴𝑎 ∶ 𝑎𝑎 → 𝐴_ ∶ 𝑎𝑎
4 4 4 4

- Offspring genotype always receives 1 allele from the mother and 1 allele from the father
(Except for mutation)
1.
- 9 and 10 are healthy but their child 11 is disease
➔ The disease allele is recessive

2.

- Because 11 and 12 are diseases; their children have both healthy and disease
➔ The disease allele is dominant

3.
- 21 and 22 are healthy but their children have both disease and healthy
➔ The disease allele is recessive
4.
- 3 and 4 are healthy but their children have both disease and healthy
➔ The disease allele is recessive

Problem 2:

Crossing two drosophila flies (both) with normal wings produces 27 individuals with short
wings and 79 with normal wings.

a) How is the short wings trait transmitted?

b) What are the parents genotypes?

c) If flies with short wings are crossed with one of the parent flies, how many normal flies are
expected in an offspring of 120 flies?

A: Normal wings: Dominant

a: Short wings: Recessive

P: Normal wings x Normal wings

Aa x Aa

F1: 79 Normal wings : 27 Short wings (≈ 3:1)

3 1
𝐴_ ∶ 𝑎𝑎
4 4

a) The short wings trait transmitted is recessive

b) The parents genotype is Aa
 c) P: Normal wings x Short wings
Aa x aa
1 1
F1: Aa : aa
2 2

60 Normal wings: 60 Short wings (an 120 offspring files)

Problem 3:

Albinism in plants is the inability to make chlorophyll. It is a recessive trait. In an experiment,

heterozygous tobacco plants undergo auto-fertilization and produce 600 seeds, of which 80%
germinate.

a) How many albino plants will be obtained?

b) How many plants will show the parental genotype?

A: Healthy: Dominant

a: Albinism: Recessive

P: Aa x Aa (Heterozygous tobaco plants undergo auto-fertilization)

1 2 1
F1: 𝐴𝐴 ∶ 𝐴𝑎 ∶ 𝑎𝑎
4 4 4

- Albino plants will be obtained:

1
600 x x 80% = 120 (plants)
4

- Plants will show the parental genotype:

2
600 x x 80% = 240 (plants)
4

Problem 4:

The ability to taste phenylthiourea (or phenylthiocarbamide) is a genetic trait that is transmitted
according to Mendel’s laws. Tasters are able to recognize a solution containing only 0.005%
of this product, by contrast to non-tasters, who are not able to detect this molecule even at much
higher concentrations.
Two parents who are both able to taste phenylthiourea have four children, of whom two are
unable to taste the molecule.

a) How is this trait transmitted?

b) What are the parents’ genotypes?

c) If this couple has a fifth child, what is the probability that the child is able to taste
phenylthiourea?

a) Parents are tasted but the child have both tasted and non-tasted

→ This trait transmitted is dominant

b) The parents’ genotype: Aa

c) A: Taste phenylthiourea: dominant

a: Non-taste phenylthiourea: recessive

P: Aa x Aa

3 1
F1: 𝐴_ ∶ 𝑎𝑎
4 4

3
➔ The probability that the child is able to taste phenylthiourea: 4

Problem 5:
Normal human skin pigmentation is dominant over the albino trait. If an albino man expects a
child with a woman who has normal skin pigmentation and whose father was albino, what are
the possible genotypes and phenotypes of the child?
 - P : Aa x aa
1 1
F1: 2 𝐴𝑎 ∶ 𝑎𝑎 (genotype)
2
1 1
𝑁𝑜𝑟𝑚𝑎𝑙 ∶ 𝐴𝑙𝑏𝑖𝑛𝑜 (phenoltype)
2 2

Problem 6:

In this pedigree, patient represented by a black symbol are born deaf.

a) What can be concluded in term of transmission of this trait?

b) What are the possible genotypes of individual III2?

a) I3 and I4 are healthy but their children are disease

→ This trait transmitted is recessive

b)

- Offspring genotype always receive 1 pair from mother and 1 pair from father (Except
mutation)
- II3 is disease (aa) → Always give allele a
- II2 is healthy (A_)
- III2 is healthy (A_)
➔ The possible genotypes of individual III2 is Aa (A from mother and a from father)
Problem 7:

The dominant allele A in Ayrhirecows produces a cut in the ears. In the following pedigree, in
which black symbols represent individuals with cut ears, determine the frequency of this trait
in the offspring from the following matings: (a) III1 X III3 (b) III2 X III3 (c) III3 X III4 (d)
III1 X III5 (e) III2 X III5

a) III1 X III3: aa x aa → 100% aa → 100% Cut in the ears

1 1
b) III2 X III3: Aa x aa → 2 𝐴𝑎 ∶ 𝑎𝑎 → 50% 𝐶𝑢𝑡 𝑖𝑛 𝑡ℎ𝑒 𝑒𝑎𝑟𝑠 ∶ 50% 𝑁𝑜𝑟𝑚𝑎𝑙 𝑒𝑎𝑟𝑠
2

c) III3 X III4: aa x aa → 100% aa → 100% Cut in the ears

1 1
d) III1 X III5: aa x Aa → 2 𝐴𝑎 ∶ 𝑎𝑎 → 50% 𝐶𝑢𝑡 𝑖𝑛 𝑡ℎ𝑒 𝑒𝑎𝑟𝑠 ∶ 50% 𝑁𝑜𝑟𝑚𝑎𝑙 𝑒𝑎𝑟𝑠
2
3 1
e) III2 X III5: Aa x Aa → 4 𝐴_ ∶ 𝑎𝑎 → 75% 𝐶𝑢𝑡 𝑖𝑛 𝑡ℎ𝑒 𝑒𝑎𝑟𝑠 ∶ 25% 𝑁𝑜𝑟𝑚𝑎𝑙 𝑒𝑎𝑟𝑠
4

Problem 8:

In Linumusitatissimum (flax, used to make linen textile), the blue color of the flowers (b) and
the long fiber length (l) are recessive traits. A farmer mate true breeding plants with short
fibers and white flowers with plants with blue flowers and long fibers.

a) What are the genotypes of these plants?

b) What is the genotype of the F1generation?

c) If plants from F1 are auto-fertilized and 800 F2 plants are obtained,

1. calculate the expected number of plants with white flowers and long fibers
 2. determine the percentage of the different genotypes among these (white flowers and
long fibers).

B: White flowers: Dominant L: Short fiber

b: Blue flowers: Recessive l: Long fiber

a) P: White, Short x Blue, Long (true breeding)

BBLL bbll
F1: BbLl
b) The genotype of the F1generation is BbLl
c) F1 x F1: BbLl x BbLl

- The number of plants with white flowers and long fibers (B_ll) :
3
𝑥 800 = 150 (𝑝𝑙𝑎𝑛𝑡𝑠)
16

- The percentage of the different genotypes white flowers and long fibers:
1
BBll = 16 𝑥 100 = 6.25%
2
Bbll = 16 𝑥 100 = 12.5%

Problem 9:

In a bovine population, two co-dominant alleles control the coat color: R (red) and r (white).
Heterozygous individuals present an intermediate color named “rouan”. The “strait hair” trait is
dominant over the “curly” trait (s). What is the result of mating a red curly bull with a homozygous
white cow with strait hair?

a) What is the offspring phenotype?

b) What is the offspring and parents genotype?

c) What is the result of mating a F1individual with a rouan curly bull?

RR: red; Rr: rouan; rr: white (Co-dominant)

S: Strait hair: Dominant

 s: Curly hair: Recessive

P: Red, Curly x White, Strait (Homozygous)

RRss x rrSS

F1: RrSs

100% Rouan, Strait

a) The offspring phenotype: Rouan, strait
b) The parent genotype: RRss (Red, curly) and rrSS (White, Strait)
The offspring genotype: RrSs
c) F1 x Rouan, curly: RrSs x Rrss
1 2 1 1 1
F2: (4 𝑅𝑅 ∶ 4
𝑅𝑟 ∶ 4
𝑟𝑟)(2 𝑆𝑠 ∶ 2
𝑠𝑠)
1 1 2 2 1 1
→ 8
𝑅𝑅𝑆𝑠 ∶ 8
𝑅𝑅𝑠𝑠: 8
𝑅𝑟𝑆𝑠 ∶ 8
𝑅𝑟𝑠𝑠: 8
𝑟𝑟𝑆𝑠 ∶ 8
𝑟𝑟𝑠𝑠
1 1 2 2 1
→ 8 𝑟𝑒𝑑, 𝑠𝑡𝑟𝑎𝑖𝑡 ∶ 8
𝑟𝑒𝑑, 𝑐𝑢𝑟𝑙𝑦 ∶ 8
𝑟𝑜𝑢𝑎𝑛, 𝑠𝑡𝑟𝑎𝑖𝑡 ∶ 8
𝑟𝑜𝑢𝑎𝑛, 𝑐𝑢𝑟𝑙𝑦 ∶ 8
𝑤ℎ𝑖𝑡𝑒, 𝑠𝑡𝑟𝑎𝑖𝑡 ∶
1
8
𝑤ℎ𝑖𝑡𝑒, 𝑐𝑢𝑟𝑙𝑦

Problem 10:
Short hair is a dominant trait in guinea pigs and is controlled by a single gene (allele L), while the
allele l corresponds to long hair. The fur color is controlled by a gene which has two co-dominant
alleles, such that: the YY genotype = yellow, YW = cream and WW = white. If individuals that have
the genotype Ll YW are mated, what will be the possible phenotypes in the F1 generation and the
percentages?

L: Short hair: Dominant

l: Long hair: Recessive

YY: Yellow; YW: cream; WW: white (co-dominant)

P: Ll YW x Ll YW

3 1 1 2 1
F1: (4 𝐿_ ∶ 4
𝑙𝑙) (4 𝑌𝑌 ∶ 4
𝑌𝑊 ∶ 4
𝑊𝑊)
 3 6 3 1 2 1
➔ 16
𝑆ℎ𝑜𝑟𝑡, 𝑦𝑒𝑙𝑙𝑜𝑤:
16
𝑆ℎ𝑜𝑟𝑡, 𝑐𝑟𝑒𝑎𝑚:
16
𝑆ℎ𝑜𝑟𝑡, 𝑤ℎ𝑖𝑡𝑒:
16
𝐿𝑜𝑛𝑔, 𝑦𝑒𝑙𝑙𝑜𝑤:
16
𝐿𝑜𝑛𝑔, 𝑐𝑟𝑒𝑎𝑚:
16
𝐿𝑜𝑛𝑔, 𝑤ℎ𝑖𝑡𝑒

➔ 18.75% Short, yellow: 37.5% Short, cream: 18.75% Short, white: 6.25% Long, yellow:
12.5% 𝐿𝑜𝑛𝑔, 𝑐𝑟𝑒𝑎𝑚: 6.25% 𝐿𝑜𝑛𝑔, 𝑤ℎ𝑖𝑡𝑒

Problem 11:
A man with Huntington’s disease (autosomal dominant – rare diseases) and the AB blood group
married a healthy woman who is O. The genes are independent. What is the probability that their
child is healthy and A?

IO = i

O blood: IOIO

A blood: IAIA, IAIO

B blood: IBIB, IBIO

AB blood: IAIB

A: Huntington disease: Dominant

a: Normal disease: Recessive

P: Huntington disease, AB blood x Healthy, O blood

Aa, IAIB x aa, IOIO

F1: Healthy, A blood

aa, IAIO

1 1 1
The probability that their child is healthy and A: aa x IA IO = = 0.75
2 2 4
Problem 12:

Two male drosophila flies (1 & 2) are mated with two females (3 & 4). These parents have
long wings and a grey body.The results of the mating are:

1 x 3 : 153 grey individualswith long wings

58 grey individuals with wing remnants

1 x 4 : 26 black individuals with long wings

73 grey individuals with long wings

2 x 3 : 112 grey individuals with long wings

2 x 4 : 89 grey individuals with long wings

What are the parent genotypes?

- 1 x 3 : 153 grey individuals with long wings: 58 grey individuals with wing remnants

→ 3 grey, long: 1 grey, remnants

→ A: Long: Dominants

a: Remnants: Recessive

➔ 1 x 3: Aa x Aa

- 1 x 4 : 73 grey individuals with long wings: 26 black individuals with long wings
→ 3 grey, long: 1 black, long

→ B: Grey: Dominants

b: Black: Recessive

➔ 1 x 4: Bb x Bb
 - 2 x 3 : 112 grey individuals with long wings
→ 100% A_B_
With 3: Aa
➔ 2: AA

- 2 x 4 :89 grey individuals with long wings

→ 100% A_B_
With 4: Bb
➔ 2: BB

➔ 1: AaBb and 2: AABB

- 2 x 3: AABB x AaB_ → 100% A_B_

1 x 3: AaBb x AaB_ → (3A_ : 1aa) (B_)

➔ 3: AaBB

- 2 x 4: AABB x A_Bb → 100% A_B_

1 x 3: AaBb x A_Bb → (A_) (3B_: 1bb)
➔ 4: AABb
- The parent genotypes: 1: AaBb; 2: AABB; 3: AaBB; 4: AABb