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نننن ن نننن منننندة من نننن ت ن ا ن ق ن ا ات الننم ن ن الننت ن ب ن -٢ال ن نمنننن الننمننة ن
ـدد األسئ . المس بق
بـالتـوفـيـــق
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نموذج
امتحانات الشّهادة الثّانويّة العا ّمة
2024 الفرع :علوم الحياة
يتكون هذا االمتحان من ستة تمارين ،يجب اختيار أربعة منها فقط.
ّ
حدد اختياراتك.
ثم ّ
عام وشامل ،ومن ّ
اق أر األسئلة كلّها بشكل ّ
تنبيه :في حال اإلجابة عن أكثر من أربعة تمارين ،عليك شطب اإلجابات المتعلقة بالتمرين الذي لم يعد من ضمن اختيارك واال فسوف
يتم تصحيح اإلجابات المرتبطة بالتمارين األربعة األولى غير المشطوبة على ورقة اإلجابة.
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Mark and Lara are both normal. They belong to a population where the proportion of heterozygous persons
for MSUD is 1/200, and they are worried about having a child affected by this disease.
Based on the analysis of the pedigrees of their families, a genetic counselor determined their risk of having
a child affected by MSUD. He got a risk equal to 1/160000.
6. Justify that neither Mark nor Lara has a family history for this disease.
A prenatal diagnosis is made for Lara to determine the real genotype and
phenotype of her fetus. An electrophoresis for the fetus and the parents is
done, as shown in document 3. The fetus’s karyotype shows a normal
number and structure of all the chromosomes, and two sex chromosomes,
X and Y.
7. Explain, based on all what precedes, the importance of the
performed prenatal diagnosis in the treatment of Lara’s child.
Document 3
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Duchenne muscular dystrophy (DMD) is a recessive genetic disorder characterized by progressive muscle
degeneration and weakness. It primarily affects boys and is caused by a mutation in the gene responsible
for producing dystrophin, a protein crucial for muscle function. As DMD progresses, it leads to difficulties
in walking, breathing, and eventually, heart problems.
One of the most common cardiac complications associated with DMD is cardiomyopathy, where the heart
muscle weakens and becomes unable to pump blood efficiently. Cardiomyopathy can manifest as
symptoms such as shortness of breath, fatigue, and irregular heartbeats. It's a significant concern because
it can greatly impact the lifespan and quality of life for individuals with DMD.
Document 1 shows a pedigree where a boy is born affected by DMD.
Document 1
DNA analysis shows that the mother (8) has two different alleles of the dystrophin gene and that the fetus
(9) has inherited only one of the two alleles from the mother. The sequence of a part of each of these alleles
is given in document 2.
1 5 10 15
GCTCTCTCCCAGCTTGAT… control - normal
GCTCTCTCAGCTTGAT… first allele of the mother
GCTCTCTCCCAGCTTGAT… second allele of the mother
GCTCTCTCAGCTTGAT… the only allele found in the fetus
Document 2
5. Specify the type of mutation that led to the formation of the mutant allele of this gene.
6. Establish the diagnosis of the child to be born concerning DMD.
FISH technique is applied on the cells of the fetus to confirm its genotype and phenotype. The obtained
results for the father, mother and child are shown in document 3.
These results reveal that an error in meiosis has occurred in one of the parents.
Document 3
7. Schematize in the concerned parent the error in meiosis that led to the state of this child.
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In the immune system, some organs cooperate, and some cells cooperate as well. Is the cooperation between
the organs actually a cooperation between the cells that they prepare? The following experiments are
performed to answer this problem.
Experiment 1:
Antigens are injected into many lots of mice under Lot Conditions Result
different conditions. Two weeks later, the serum is Ablation of thymus at
taken from these mice and mixed with the same type 1 birth then injection of No agglutination
of the injected antigen. The conditions and the antigens after 3 months
results are given in the table of document 1. Ablation of the bone
2 marrow then injection No agglutination
1. Specify, based on the obtained results, the of antigens
organs responsible for the reaction of Control mice having
agglutination. bone marrow and Agglutination of
2. Name two other organs of the body that may play 3
thymus and injected by injected antigens
a role in the immune response leading to the antigens
agglutination reaction. Ablation of thymus at
one year old then Agglutination of
Knowing that B lymphocytes mature in the bone 4
injection of antigens injected antigens
marrow and T lymphocytes mature in the thymus: after three months
3. Formulate a hypothesis to explain the result
obtained in lot 4. Document 1
Experiment 2:
Many cultures of immune cells are made using Marbrook chambers in the presence of SRBC, as shown in
the table below.
Culture 1 2 3 4 5
Upper BL BL and
M and TL TL TL and M
chamber and M TL and M
Lower
- M BL TL -
chamber
- Interleukin - Interleukin
Results Interleukin and and
antibodies antibodies
Document 2 M = macrophage Document 3
4. Determine the mode of communication between TL and macrophages needed for the secretion of
interleukin.
5. Schematize the mechanism of recognition between the macrophage and the TL.
6. Justify the cooperation of T4 with BL occurred similarly in both cultures 3 and 5.
Experiment 3:
The obtained antibodies are incubated with SRBC in two culture mediums. Complement proteins are added
only to one of them. We obtain an agglutination of SRBC in one of the two tubes and their lysis in the
other.
7. Explain the obtained results.
8. Show, based on all what precedes, that the cooperation between the bone marrow and thymus is actually
a cooperation between the cells they prepare.
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Experiment 2:
The TL obtained after proliferation in experiment 1 are used to prepare three cultures as shown in the table
of document 2.
Culture Proliferated TL BL SRBC Hepatitis virus Results
4 + + - - No production of antibodies
4. Deduce, starting from document 2, the condition necessary for the activation of BL.
5. Specify the type of TL responsible for the results obtained in cultures 1 and 2.
The antibodies obtained in culture 2 are injected into a mouse, which is then injected with the hepatitis
virus. This mouse survives, while other mice injected only with the hepatitis virus die.
6. Explain the role of antibodies in the protection of the mouse from the hepatitis virus.
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Document 2
Microscopic observations are made for the endometrium of both the normal woman and the one using the
combination pill. Document 3 shows the two states obtained.
Document 3
5. Match each of the two states of the endometrium to the corresponding woman. Justify your answer
based on the results obtained in document 2.
In the case of using an IUD, the endometrium appears similar to that obtained under the combination pill,
with fewer tube-like glands and persistent inflammation.
6. Explain how the effect of these contraceptive methods on the endometrium help in preventing
pregnancy.
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Second experiment:
- Ablation of the pituitary glands in female monkeys results in the atrophy of their ovaries and uterus
and the disappearance of ovarian and uterine cycles.
- Grafting the pituitary gland in the pituitary area restores the ovarian and uterine cycles.
- Grafting the pituitary gland in another place of the body does not restore the ovarian and uterine
cycles.
3- Interpret the obtained results.
Third experiment:
We measure the rates of estrogen and progesterone in two female monkeys after the ablation of the pituitary
gland under the following conditions:
Case 1: Female monkey A is injected with FSH and LH, then after 14 days, it is injected with a high
dose of LH.
Case 2: Female monkey B is continuously injected with LH and FSH.
The results are shown in the graphs below.
160 amount of estrogen progesterone 160 estrogen progesterone
amount
140 hormone 140 of hormone
120 in a.u. 120 in a.u.
100 100
80 80
60 60
40 40
20
20
0
0
0 2 4 6 8 10 12 14 16 18 20 22 24 26 28 0 2 4 6 8 10 12 14 16 18 20 22 24 26 28
Case 1 Time (days) Case 2 Time (days)
Document 3 Document 4
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Solution:
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Female 3 is certainly heterozygous since she passed an Xd to her son 7. This woman has
certainly taken the Xd from her mother, as her father is normal with genotype XNY.
3. Therefore, Mother 1 is certainly heterozygous since she is normal with one allele of the 0.5
disease.
Female 5 is normal with XN, but her mother 1 is heterozygous, so Female 5 has a risk of
½ to take Xd from her mother. This woman also has a risk of ½ to give Xd to her child if
she is heterozygous.
4. Therefore, if the child is a boy, he will get Y from his father and has a risk of (½ × ½) to 1
get Xd. So, his risk to be affected is ¼.
If the child is a girl, she will receive XN from her father and will be normal, since the
normal allele is dominant, and her risk to be affected will we null.
The control allele and the second allele of the mother have the same number and
sequence, so the first allele of the mother is the mutant one since its sequence differs from
the control one.
The nucleotides from 1 to 8 are the same between the control allele and the first allele of
5. the mother. Also, nucleotides from 11 to 17 are identical to nucleotides from 9 to 15 of 0.75
the first allele of the mother. So, the two nucleotides CC of positions 9 and 10 are
suppressed in the first allele of the mother. Therefore, the mutation is a mutation by
deletion.
Document 2 shows that the fetus has only one mutant allele. So this child will be affected
6. by DMD. 0.5
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Scheme of abnormal meiosis in the mother.
(Note that the fetus has inherited two mutant alleles from the mother; an error in meiosis
II in the mother alone can lead to this result).
Normal disjunction of
homologous chromosomes
during meiosis I
7. 1
Non-separation of Normal
sister chromatids separation
during meiosis II
n-1 n+1 n n
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6. T4 cells secrete interleukin 4, which activates BL to proliferate and differentiate into 0.75
plasma cells that secrete antibodies.
If T4 and BL are in the same chamber as in culture 5, this activation occurs normally.
Similarly, when they are separated by a membrane permeable to molecules but not to
cells, as in culture 3, since interleukin 4 is a molecule that is able to cross the membrane
and activate BL.
7. In the tube where only antibodies are added, these antibodies bind to the SRBC, causing 1
their agglutination. In contrast, after adding complement to the other tube in the
presence of antibodies, the complement binds to the constant region of the antibodies
already bound to SRBC. This triggers the complement cascade, resulting in the
formation of a membrane attack complex on the membrane of SRBC, leading to their
lysis.
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Under the combination pill and in the presence of an IUD, endometrial development is
reduced, there is no enough formation of tube-like glands, and no formation of uterine
6. lace and glycogen secretion. On the other hand, the IUD provokes inflammation of the 1
endometrium. These actions of contraceptive methods on the endometrium prevent the
implantation of the embryo and thus prevent pregnancy.
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6. 1
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