SCENARIO

1
T H
WI

GROUP 3
 T E P 1
S

TERMINOLOGY
 DIFFICULT KEYWORDS
WORD

1. Mr. A (40 years) and Mrs. B (38 years)

2. Ther is something physically odd in the first
1. Abortion: a fetus weighing less child
than 500 g or having a gestational 3. Flattened nose
age ogless than 20 weeks at the time 4. Narrow forehead
of discharge from the uterus has no 5. Short neck and wide
hope of life (Kamus Dorlan) 6. Small ears
7. Mouth open
8. Macroglossia
2. Macroglossia: Macroglossia is a
9. Two eyes apart
tongue disorder in wich the size of 10. Not a smart as his friends in behavior and
the tongue is larger than normal. speech
(Richard D, 2002) 11. There is no history of child with the same
disorder
12. History of abortion
13. Want more children without defects
 T E P 2
S

DETERMINE PROBLEM
1. What are the chances of child C?
2. What causes the abnormality in child C?
3. What are the risk factor for this disorder?
4. What are the clinical symptoms of this disorder?
5. How did the disorder occur?
6. What are the complication of the disorder?
7. Is there a relationship between inbreeding and down
syndrome?
8. What education can be given to the parents of child C?
9. Is there a possibility that a second child onwards will be
born with the same symptoms?
10. What should be done with Mr. A and Mrs. B so that at the
next birth there is no more abortion?11. How are Islamic
values related to this case?
 T E P 3
S

ANALYZE PROBLEM
1. Experiencing Down syndrome, because the symptoms it causes are characteristic of Down
syndrome
2. The causes of Down’s syndrome is due to abnormalities of the 21stchromosome arrangement.
3. Risk factors for Down’s syndrome:
Viral infection, namely the rubella virus
Radiation
Aging of the egg
Maternal age, women aged more than 35 years are at risk of giving birth to a baby with down
syndrome

4. Two eyes apart, flattened nose, macroglossia or tongue abnormalities in the form of a large
tongue size than normal, marrow forehead, short and wide neck, small ears
5. Down syndrome abnormalities can occur in excess of one copy of chromosome 21 in the genome
can be in the form of free chromosomes, namely pure trisomy. Chromosomes fail to join to one of
the daughter nuclei formed during cell division
5. Down syndrome abnormalities can occur in excess of one copy of chromosome 21 in the genome can be in the form
of free chromosomes, namely pure trisomy. Chromosomes fail to join to one of the daughter nuclei formed during cell
division

6. Cardiovascular problems, hormone problems, hematology and oncology, gastrointestinal problems, infection and
disorders of the body’s defenssystem, neurological problems, visual disturbances

7. A person from inbreeding will have very minimal genetic diversity in their DNA because the DNA inherited from the
father and mother are similar. So, if there is inbreeding, it is possible that the offspring will be born with defects.

8. Informed that it was related to child C who had Down syndrome from Mr. A and Mrs. B, the factor could be because
Mrs. when giving birth to child C was over 35. Advise Mrs. B for a screening and diagnosis of Down's syndrome.

9. It is possible that the next offspring (second child onwards) can develop Down syndrome as well because it can be
caused by a Robersoniatranslocation. The translocation that results from trisomy 21 may be inherited, so it is important
to check the chromosomes of the parent in this case to see if the child may have a carrier trait.

10. Mr. A and Mrs. B eat nutritious food, moderate exercise, avoid areas that experience air pollution

11. In Surah Al-Baqarah: 214 and Sura Al-Baqarah: 155-157 it is stated that humans will be afflicted with various
misfortunes and miseries which are none other than to test human faith in order to become a better human being, and
get a higher degree with Allah. as children with Down syndrome are children as slander or tests for their parents who
must be taken care of properly. good, fulfilled their rights, loved, cared for, educated. For parents who are patient in
caring for Allah's deposit, Allah will have a great reward for those who keep the mandate as conveyed by QS. At-
Taghabun: 15
 T E P 4
S

MIND MAPPING
 Mrs. B Never Abortion (1 year ago)

- Flattened Nose
- narrow forehead
- Short & Wide Neck
Physical - Small ear
Mr. A (40 thn) & Mrs. B (38 thn) - Open Mouth
- Macroglosia
The first child
- the distance between the eyes is further than usual

Behavior Behavior and speech are not as good as other normal kid

- QS. An - Nur : 61
Al- Quran & Hadits - QS. Abasa : 1 - 11
- Hadits Abu Dawud

Telomeres Function Maintain the stability of DNA so that it does not break down

Centromer Function The place where the chromosome arms attach

Histone Function Arrange chromatin and chromosome threads with DNA

Chromatids Function Attaching chromosomes to one another

- DNA decomposition
- Initiation, Synthesis & Elongation DNA
DNA replication stages
- The formation of replication forks
- reconstruction of the chromatin structure
Parts
- Gene identifier
DNA Function - Determine the lineage
- Serving the development & process of Metabolism

- Primary
Structure - Tertiary
- Secondary

- An intermediary between DNA & Protein in the process of gene

Function
expression
RNA
- Nitrogen Bases
Structure - Phosphate Group
- Ribose Sugar Downs Syndrome

Chromonema

Chromomeres
Chromosome
Structure Daughter cell nucleus

Telomeres

Satellite

- Storing genetic material

- Determine gender
Function
- Play a role in the DNA transcription process
- Berperan dalam pembelahan sel

Differences in the physical condition of the body and in their

Genetic Abnormalities
behavior

Cell Patau's Syndrome

Edward's Syndrome

Chromosome Abnormalities Down's Syndrome

Klinefelter's Syndrome

Turner's Syndrome

- Mitosis
- G1
Cell division and Intephase stage Cell Cycle
-S
- G2

Mechanism :
SinProt formation - Transcription
- Translation
 T E P 5
S

LEARNING OBJECTIVE
 1. Students can explain chromosome parts
2. Students can explain the structure and function of
chromosomes, chromatids, DNA, and RNA
3. Students can explain the stages of cell division and
interphase.
4. Students can explain the stages of replication.
5. Students can explain the process of forming protein synthesis.
6. Students can explain genetic and chromosomal abnormalities.
7. Students can explain the relationship between these cases
with the theorem that are in Al-Alquran or hadith.
 T E P 6
S

GATHER INFORMATION
 1. STUDENT CAN EXPLAIN
CHROMOSE PART

Telomer
Telomeres play a central role in cell and aging by adjusting cellular responses
to stress and growth stimulation based on previous cell division and DNA
damage.
Centromer
The centromere, the chromosome region that is physically linked to the spindle
during cell division, ensures the same distribution of genetic material between
daughter cells. They are ubiquitous and important in eukaryotic life.
Kinetochore
This chapter discusses the players and the process of chromosome
segregation through the mitotic cell cycle in the fungal, animal and plant
kingdoms. It also addresses the growing knowledge of protozoa as well
Chromatid
After DNA replication, each chromosome consists of two identical sister
chromatids held together by protein-mediated relationships.
 NEXT........

Nucleosomes
The nucleosome is the particle structure of the nucleosome nucleus, the basic
repeating unit in eukaryotic chromatin, allowing us to see the role of histones in
regulating transcription, and in structuring specific chromatin domains in a
structural context.
Histone
Histone proteins play an important structural and functional role in the transition
between active and inactive chromatin states.
DNA
DNA is a collection of base pairs / amino acid sequences. DNA as energy storage
to facilitate the process of translocation enzymes such as RNA polymerase.
Gen
Behave as particles that remain intact from one generation to another.
2. STUDENTS CAN EXPLAIN THE STRUCTURE AND FUNCTION
OF CHROMOSOMES, CHROMATIDS, DNA, AND RNA.

1. Chromosome
—> Structure
Chromonema is a spiral band
Chromomer is thickening in chromonema
The centromer is where the spindle thread attaches
The second indentation plays a role in the formation of the nucleolus
Telomeres are the ends of the chromosomes that block the connection of
one chromosome end to another
Satellite is an addition or protrusion located at the end of the
chromosome•Fungction: Its main function is to store genetic material,
determinegender, DNA transcription process for protein synthesis, take a
role in the process of cell division.
 NEXT........

1. Chromatids
—> Structure
Chromatid is a chromosome division in which each chromosome splits
lengthwise into two parts.
Function: attaching chromosomes to one another at the centromere.
2. DNA
—> Structure
Primary structure
Secondary structure
Tertiary structure
Function : identify gen, determine the lineage, to regulate the
development and metabolic processes of an individual.
 NEXT........

1. Chromatids
—> Structure
Chromatid is a chromosome division in which each chromosome splits
lengthwise into two parts.
Function: attaching chromosomes to one another at the centromere.
2. DNA
—> Structure
Primary structure
Secondary structure
Tertiary structure
Function : identify gen, determine the lineage, to regulate the
development and metabolic processes of an individual.
2. STUDENTS CAN EXPLAIN THE STRUCTURE AND FUNCTION
OF CHROMOSOMES, CHROMATIDS, DNA, AND RNA.

1. Chromosome
—> Structure
Chromonema is a spiral band
Chromomer is thickening in chromonema
The centromer is where the spindle thread attaches
The second indentation plays a role in the formation of the nucleolus
Telomeres are the ends of the chromosomes that block the connection of
one chromosome end to another
Satellite is an addition or protrusion located at the end of the
chromosome•Fungction: Its main function is to store genetic material,
determinegender, DNA transcription process for protein synthesis, take a
role in the process of cell division.
 NEXT........

1. Chromatids
—> Structure
Chromatid is a chromosome division in which each chromosome splits
lengthwise into two parts.
Function: attaching chromosomes to one another at the centromere.
2. DNA
—> Structure
Primary structure
Secondary structure
Tertiary structure
Function : identify gen, determine the lineage, to regulate the
development and metabolic processes of an individual.
 NEXT........

1. RNA
Structure
Single thread composed of ribose sugar molecules, phosphate groups,
and nitrogen acids.
Function: as an intermediary between DNA and proteins in the
process of genetic expression.
3. STUDENT CAN EXPLAIN THE STAGES OF CELL DIVISION
AND INTERPHASE.

The cell cycle is basically divided into 2

phases, namely interphase and mitosis. The
interphase phase lasts very long while mitosis
is very short.
Interphase Stages
G1: the increase in cell size, there is the
formation of macromolecules which are
essential for the preparation of DNA
duplication.
S: DNA and centriole synthesis and
replication occur.
G2: RNA and proteins that are important for
cell division will be synthesized.
 NEXT........
The stages of mitotic division
1.Interphase, nuleus membrane borders the nucleus and
two centrosomes begin to form.

2.Prophase, chromatin fibers become coiled more tightly

3.Prometaphase, the chromosomes become increasingly

condensed, Each of the two chromatids on each
chromosome now has a kinetochore

4.Metaphase, the chromosomes are lined up on the

metaphase plate

5.Anaphase, the two liberated offspring of chromosomes

begin to move toward opposite ends of se as the
kinetochore microtubules shorten.

6.Telophase, two daughter nuclei are formed in the

cell7.Cytokinesis, the formation of the dissecting
indentation that divides the cell into two
 4.STUDENTS CAN EXPLAIN THE STAGES OF REPLICATION

In all cells, replication can only occur from single-stranded DNA (ssDNA) printsFollowing are the
stages of eukaryotic DNA replication

1 Origin of replicationAt the ori there is a relationship between a specific dsDNA-binding protein
sequence with a series of DNA sequences that repeat immediately.
2 DNA decompositionThe protein-ori interaction determines the initial site of replication and results in
short pieces of ssDNA essential for initiating the synthesis of new DNA strands
3 Establishment of a replication forkFor each replication fork, several fragments ozaki,this allow the
formation of an RNA primer after which the polymerase will initiate DNA replication.
4 initialization of DNA synthesis and elongationThe initiation of DNA synthesis requires the use of a
primer in the form of a short segment of RNA, about 10-200 nucleotides long
5 Replication bubble formationreplication occurs in both directions along all chromosomes and both
strands are replicated simultaneously will process produces replication bubbles
6 Reconstitution of chromatin structureThe newly replicated DNA will newly formed nucleosomes and
histone octamer which is randomly distributed to each arm of the replication fork
 5. STUDENTS CAN EXPLAIN THE PROCESS OF FORMING
PROTEIN SYNTHESIS.

Protein synthesis occurs in two stages, namely transcription followed by

translation.
1 TranscriptionTranscription is the process of forming RNA molecules using DNA
as a template.the transcription process produces three types of RNA, namely:
ambassador RNA (mRNA), tRNA, and rRNA. These three types of RNA play a
role in the translation process

2 TranslationIn the translation process amino acids are linked to other amino
acids with peptide bonds carried out by ribosomes. each amino acid will be
carried by a specific tRNA into the mRNA-ribosome complex. The codon on the
mRNA will pair with the anticodon present in the tRNA. In this translation
process there is only one initial codon, namely AUG and three final codons:
UAA, UAG, and UGA.
 6. STUDENTS CAN EXPLAIN GENETIC AND CHROMOSOMAL
ABNORMALITIES.

➢ Chromosomal geneticindividuals who experience genetic disorders will experience

differences in their physical condition, both in terms of existing conditions in the body and in
their behavior.
➢ Choromosomal abnormalitieschromosomal abnormalities can or often occur when there is
an error in the cell division process. As for the types of chromosomal disorders:
a) Patau syndromePatau syndrome or trisomy 13 is a chromosomal disorder caused by an extra
chromosome in number 13.
b) Edwards syndromeEdwards syndrome or trisomy 18 is a disorder in chromosome number 18
which increases by one chromosome. This addition brings the chromosome number to 47.
c) Down SyndromeDown syndrome is a congenial disorder characterized by an abnormal
number of chromosomes, namely 3 chromosomes, so the total number of chromosomes is 47.
d) Klinefelter syndromeKlinefelter syndrome is a common sex chromosome disorder caused by
the presence of an extra X chromosome in males (47, XXY).
e) Turner SyndromeTurner syndrome is the most common sex chromosome disorder in
women,with chromosome 45, X karyotype.
7. STUDENTS CAN EXPLAIN THE RELATIONSHIP BETWEEN THE
CASE AND THE ARGUMENTS IN AL-ALQUR'AN OR HADITH

➢ QS An-Nur verse 61:Based on the meaning of the paragraph above, it can be emphasized
that social equality between persons with disabilities and those without disabilities. They must
be treated equally and accepted sincerely without any discrimination in social life

➢ QS 'Abasa verses 1-11:Surah 'Abasa came down to him (Prophet Muhammad SAW)as a
warning to pay attention to him, even though he was blind. In fact, he was required to pay more
attention to it than the Quraish leaders. Since then, the Prophet Muhammad SAW has honored
him greatly

➢ Abu Dawud HadithThis hadith gives an understanding that behind physical limitations
(disabilities) there is a noble degree with Allah Ta'ala.
 T E P 7
S

SUMMARY
 SUMMARY
Down syndrome is a genetic disorder caused by trisomy 21 with physical
characteristics of a flat nose / flattened nose, forehead narrow, short and wide
necked, small ears and an open mouth with macroglosia accompanied by the
distance between the two eyes apart.
Chromosomes function for store genetic material, play an important role in the
process of transcription and translation DNA in carrying out protein synthesis.
Chromosomal abnormalities can occur at any time there is an error in the process of
cell division, namely at the anaphase stage, where cell division is a phase contained
in the cell cycle. On the cell cycle, DNA replication occurs and cell size increases.
People with Down's syndrome often get discriminated against in social life,
therefore we are must implement behavior in accordance with Q.S An-Nur verse 61.