SV Bio 2021 1 en
SV Bio 2021 1 en
Fructosemia is a disease caused by deficiency of aldolase B enzyme. The following pedigree in document 1
shows the transmission of this disease in a family.
1 2
3 4 5 6
?
Document 1
1. Indicate whether the allele responsible for the disease is dominant or recessive. Justify the answer.
2. Determine the chromosomal localization of the gene responsible for this disease.
3. Write the possible genotypes of each of the individuals 3 and 4.
Document 2 represents the results of the electrophoresis performed on the alleles of the studied gene
in individuals 3, 4 and the fetus.
Individual
3 4 Fetus
Allele
Normal ــــــــــ ــــــــــ ــــــــــ
Mutant ــــــــــ
Document 2
1
Exercise 2 (4 points) Fructosemia
Congenital fructosemia is an intolerance to fructose, preventing the absorption of fructose and all sugars
containing fructose. It is due to a deficiency in aldolase B, an enzyme located in the liver, small intestine
and kidneys. Aldolase B enzyme is responsible for the cleavage of fructose -1- phosphate into two
molecules: DHAP and glyceraldehyde. Children affected by this disease show a dysfunction of the liver
and kidney weakness with abnormal high levels of sugar, amino acids and salts in the urine.
Document 1
2
Exercise 3 (6 points) Synaptic Transmission
3
Exercise 4 (6 points) Uterus and Ovarian Hormones
The uterus, an organ of the female reproductive system, is made up of 3 layers: an external layer (serous
external), a muscle layer (myometrium) and an internal layer (endometrium). This endometrium undergoes
cyclic development controlled by the ovarian hormones.
In the framework of studying the effect of the ovarian hormones on the uterus, the following experiments are
performed.
Experiment 2: Estradiol and progesterone are injected to lots of ovariectomized mice at puberty. The
conditions and the results are represented in document 2.
Lots
Lot 1 Lot 2 Lot 3 Lot 4
Injections
Estradiol - + - +
Progesterone - - + +
(+): presence (-): absence
No thickening of Endometrial No thickening of the Endometrial
Results the endometrium. thickening. endometrium. thickening with
No uterine lace No uterine lace No uterine lace uterine lace
Document 2
4
امتحانات الشهادة الثانوية العامة وزارة التربية والتعليم العالي
العاديّة2021 دورة العـام فرع علوم الحياة المديريّــة العامة للتربية
دائرة االمتحانات الرسمية
5 The electrophoresis permits determining the real genotype of the individual. 1/2
Exercise 2 Fructosemia
Q. Note
Answer Key
1.1 Deficiency of aldose B. 1/2
Children affected by this disease show a dysfunction of the liver and kidney weakness with
1.2 abnormal high levels of sugar, amino acids and salts in the urine. 1/2
The number of nucleotides in the mutated allele is smaller than in the normal allele 18 <24
(1/4)
Nucleotides 7,8,9,10,11 and 12 (or 8, 9, 10, 11, 12 and 13) are absent in the mutated allele
2 3/4
(1/4). However, the remaining nucleotides are identical (1/4).
Or the first six nucleotides ( or the first seven nucleotides) are identical in both sequences
(1/4). However, the remaining nucleotides are different (1/4).
3 Mutation by deletion. 1/4
4.1 mRNA that corresponds to the normal allele:
AAU GGA CUG GUA CCU AUU GUU GAA
mRNA that corresponds to the mutant allele: 1/2
AAU GGA CCU AUU GUU GAA
The mutation by deletion in DNA was transcribed at the level of the mRNA by the absence
of codons which results in an absence of the two amino acids Leu and VaL. This new
5 amino acid sequence affects the three-dimensional form of the protein (Enzyme aldolase B) 1
which becomes non-functional. As this enzyme is responsible for the cleavage of fructose 1
phosphate, the change in its function is manifested by fructose intolerance.
+
Exercise 3: Synaptic transmission
Q. Note
Answer key
- Arrival of an action potential to the presynaptic nerve ending.
- Opening of calcium channels and entrance of Ca2 + ions into the presynaptic
membrane.
- Liberation of neurotransmitters by exocytosis into the synaptic cleft. 1
1
- Fixation of neurotransmitters to postsynaptic receptors. 1/2
- Opening of chemo-dependent channels.
- Genesis of PSP in the postsynaptic element.
Recapture of neurotransmitters by the presynaptic neuron or its degradation.
As the intensity of the stimulation increases from I1 to I4, the concentration of Ca2 + in the
2 presynaptic element increases from 1 to 7, similarly, the amount of released acetylcholine 1
increases from 30 to 60 a.u.
The nerve message at the level of a synapse is coded by modulation in Ca2 + concentration
3 and the neurotransmitter acetylcholine concentration as a function of the intensity of the 1/2
stimulation.
The synapse N-N3 is excitatory, because following the application of S1, an AP is obtained
at the level of O1.
4 2
The synapse N2-N3 is inhibitory, because following the application of S2, a
hyperpolarization is obtained at the level of O1.
When S1 and S2 are applied simultaneously, an EPSP of amplitude +2mV less than
threshold is generated at the level of O1, but a RP at the level of O2.
In fact, the motor neuron plays an integrative role. It sums up algebraically the IPSP
5 produced at the level of the synapse N2N3 and the EPSP produced at the level of the 1
synapse N1N3. These PSPs are added (spatial summation), producing, thus, an EPSP of
amplitude +2mV. Since this amplitude is less than threshold of depolarization, it remains
incapable of generating a propagating AP at the level of N3 neuron.