Genetic Final B1 - LS

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GENETICS
FINAL EXAMINATION REVIEW

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CHAP I: DNA (DEOXYRIBONUCLEIC ACID), RNA

*****
A. Key concept:
Genetics:
● Heredity (or inheritance): the transmission of traits from one generation to the next.
Children inherit their biological parents' genes -> express specific traits (physical
characteristics, natural talents, genetic disorders)
● Genetic: the scientific study of heredity and hereditary variation.
Inheritance of genes:
● As we've already known, parents endow their offspring with coded information in the
form of hereditary units: genes (which are the genetic links to our parents and they
account for family resemblances).
● DNA of a eukaryotic cell is packaged into chromosomes within the nucleus, every
species has a characteristic number of chromosomes. (ex: humans have 46
chromosomes in somatic cells).
Genetic terminology:
● Gene:
○ The basic unit of genetic information.
○ Determine inherited characters.
○ A small section of DNA is coded for specific traits.
○ Genes are found on chromosomes
● Genome:
○ Collection of genetic information.
● Chromosomes:
○ Storage units of genes.
○ Human: 2 sets of 23 chromosomes - one set from each parent.
● DNA
○ A nucleic acid
○ Contains genetic instructions (specifying biological development)
Chromosome logical structure:
○ Locus: Location of a gene
■ A gene's specific location along the length of a chromosome.
○ Allele:
■ One variant form of a gene/marker at a particular locus.
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Explain the experiment:

1. Frederick Griffith: DNA can transform bacteria
● Experiment:
Frederick Griffith đã nghiên cứu hai chủng vi khuẩn Streptococcus pneumoniae gây bệnh
viêm phổi ở động vật có vú. Để thử nghiệm quá trình phát sinh bệnh, Frederick Griffith đã
tiêm hai chủng vi khuẩn khác nhau vào chuột thí nghiệm.
- Chủng vi khuẩn S (khuẩn lạc trơn) gây bệnh viêm phổi ở chuột. Chủng độc vì tế bào có
vỏ bao (capsule) nên hệ thống miễn dịch của cơ thể động vật không thể tiêu diệt.
- Chủng vi khuẩn R (khuẩn lạc nhăn) không có lớp vỏ và không độc (không gây bệnh).
● Observation: các tế bào của chủng độc đã bị diệt bởi nhiệt khi trộn với tế bào sống
chủng R (không gây bệnh) lại sinh ra các tế bào con có độc.
● Conclusion: Frederick Griffith cho rằng vi khuẩn R sống đã được biến đổi bởi vi khuẩn
S gây bệnh bằng một vật chất di truyền bắt nguồn từ vi khuẩn S đã chết -> hiện tượng
tế bào R trở nên có lớp vỏ.
-> Frederick Griffith called this phenomenon: transformation (biến nạp) which is now
known as a change in genotype and phenotype due to the assimilation of external DNA
by a cell.
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2. Avery, Macleod, McCarty:
● Experiment:
Với mục đích xác định tác nhân gây transformation, các nhà khoa học sử dụng chủng vi
khuẩn gây bệnh S, đã chết bởi nhiệt, phá vỡ lớp vỏ tế bào của chúng và chiết xuất 3
thành phần từ dịch chiết tế bào: DNA, RNA và protein.
Giả thiết rằng:
- Nếu protein là tác nhân gây transformation: sau khi loại bỏ protein bằng enzyme
protease và phối trộn với tế bào sống dạng R thì hiện tượng transformation sẽ
không xảy ra.
- Nếu DNA là tác nhân thì sau khi loại bỏ bằng enzyme deoxyribonuclease và trộn
với tế bào sống dạng R thì không xuất hiện hiện tượng transformation.
● Observation:
○ Duy nhất ở trường hợp DNA bị enzyme phá hủy thì không xảy ra transformation.
● Conclusion:
○ DNA was found to be the genetic material that was being transferred between
cells, not proteins.
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3. Hershey and Chase: viral DNA can program cells
● Experiment:
Năm 1952, Hershey and Chase đã tiến hành thí nghiệm với phage T2, một trong nhiều
loại virus lây nhiễm E.coli.
Đã biết: Phage T2 có thành phần cấu tạo bao gồm DNA và protein; chúng có thể khiến tế
bào E.coli tạo ra nhiều bản sao phage cùng phân rã tế bào. T2 bằng cách nào đó có thể
tái lập trình tế bào chủ để nó sản sinh ra các virus.
Muốn biết: Phân tử nào đi vào tế bào và tái lập trình hoạt động của vi khuẩn giúp chúng
sản sinh ra các virus con.
Hershey và Chase thực hiện thí nghiệm chỉ cho một trong hai thành phần của T2 xâm
nhập vào tế bào.
- Protein:
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○ Đánh dấu bằng đồng vị phóng xạ của sulfur ( S) . Bởi protein chứa S
trong thành phần cấu tạo trong khi DNA thì không, nên các nguyên tử S
phóng xạ chỉ kết hợp vào các phân tử protein của phage.
- DNA:
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○ Đánh dấu bằng đồng vị phóng xạ phosphorus P (lý giải tương tự).
● Observation:
○ Khi Protein được đánh dấu, hoạt tính phóng xạ được giữ bên ngoài tế bào.
○ Khi DNA được đánh dấu phóng xạ, hoạt tính phóng xạ được tìm thấy bên trong
tế bào.
○ Khi các tế bào này được cấy trở lại môi trường nuôi cấy, sự lây nhiễm vẫn tiếp
tục, các tế bào vi khuẩn mang DNA của phage đánh dấu phóng xạ giải phóng ra
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các virus thế hệ con mang đồng vị phóng xạ P.
● Conclusion:
○ DNA got injected into the host cell, therefore DNA is the hereditary material that
is passed from virus to bacteria.
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I. Discovering the structure of DNA:

1. Comparison of DNA and RNA:
DNA RNA
Sugar deoxyribose ribose
Bases A,G,C,T A,G,C,U
Strands Double strands Single strand
Genetic Most life Some viruses

material
2. Structure DNA:
● Components of DNA:
○ Subunits: nucleotides
○ Nucleotides made up of:
■ A 5-carbon sugar called deoxyribose.
■ A cyclic molecule, the ring contains 1 Oxygen and 4 Carbons, and
a 5th C atom is attached to the 4th C of the ring.
■ Group -OH attached to the 3rd C in the ring.
■ A phosphate group:
■ One of 4 nitrogenous bases:
■ Pyrimidines (1 ring): C,T
■ Purines (2 rings): A,G
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● Structure of DNA: double helix (right-handed double-helical structure)

● Outside of the helix: the Sugar - phosphate backbone
○ 5’ - 3' Phosphodiester bonds.
■ Covalent bond.
■ Link 2 successive nucleotides in the same strand of DNA.
Linkage of oxygen (sticking off the 3'carbon of the first nucleotide) and the
phosphorus atom (in the phosphate group that sticks to the 5'carbon of the
second polypeptide).
● The phosphate group along the backbone contributes a negative charge along
the outside of the strand.
● Two sugar-phosphate backbones are antiparallel.
○ 2 strands of the helix run in opposite directions of one another.
○ The 5' end (phosphate-bearing end) of one strand aligns with the 3' end
(hydroxyl-bearing end) of the other
● In the interior of the helix:
○ Complementary bases pairing ( Watson-Crick base pairing) -> Explain
Chargaff's rule.
○ Hydrogen bonds happen between certain hydrogen atoms on one base and
certain oxygen or nitrogen atoms on the base across from it.
○ Hydrogen bond: again remark that a large purine pair to a small pyrimidine
(must)
■ G☰C: base pair have 3 hydrogen bonds -> more stable.
● A=T: base pair has 2 hydrogen bonds.
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● Chargaff's rule:
○ A=T, C=G: the amount of A always be the same as in the amount of T; the
amount of C always be the same as in the amount of G
II. RNA:
- Component of RNA:
● The five-carbon sugar: ribose
● A phosphate group.
● One of the 4 nitrogenous bases: A, U, G, C. (U is pyrimidines)
- Structure:
● Single-stranded
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● Types of RNA:
Type Role
Messenger RNA (mRNA) Carries information from DNA in the nucleus to

ribosomes in the cytoplasm.
Ribosomal RNA (rRNA) Structural components of ribosomes.
Transfer RNA (tRNA) Carries amino acids to the ribosome during translation to
help build an amino acid chain.
- Viral genomes
● Genetic material:
○ Nucleic acid: either RNA or DNA.
○ The genome can be:
■ Double-stranded DNA (ds DNA)
■ Double-stranded RNA (ds RNA)
■ Single-stranded DNA (ss DNA)
■ Single-stranded RNA (ss RNA)
○ The genome can be linear or circular
● Retroviruses: a virus with RNA genome
- The HIV lifecycle:
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III. Prokaryotic and eukaryotic genomes:

1. Prokaryotic genomes:
● Most genomes are:
○ Single-molecule
○ Double strands DNA
○ Some: small additional circular DNA that can replicate independently (plasmid)
● Genome organization:
○ Nucleoid: dense region of DNA, not bounded by a membrane.
○ Supercoiling.
■ Unique structure of DNA molecule.
■ Produced after one or both strands of DNA are cleaved.
■ DNA will rotate or twist.
○ DNA loops.
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2. Eukaryotic genome:
● Locate:
○ Nuclear genome
○ Mitochondrial genome
○ Chloroplast genome
● Genomes:
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● Chromosome structure:
○ A dynamic structure (that is condensed, loosed, modified, and remodeled) for
various processes such as mitosis, meiosis, and gene activity.
○ Contain a single large double helix of DNA molecules, highly condensed during
mitosis and meiosis.
○ Unique structure: centromeres and telomeres
● Nucleosomes:
○ Diameter: 10nm
○ The subunit of all chromatin
○ Made of:
■ Nucleic acids
■ 8 core histone proteins: 2 each of H2A, H2B, H3, H4
■ 1 linker histone protein (H1 or H5, H1 is the most prevalent):
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○ Structure:
■ One strand of DNA is coiled around the outside surface of the protein
octamer (a protein complex with 8 proteins).
■ Each core histone octamer is comprised of two copies of four core
histone proteins.
■ The amino end (N-terminus) for each histone (the histone tail) extends
outward from the nucleosome.
■ One additional linker protein called H1: helps to pull nucleosomes
together and pack them into a more compact chromatin fiber.
● Chromatin:
○ Consists of DNA, which contains heredity information and instructions for cell
growth, development, and reproduction.
○ Euchromatin (nguyên nhiễm sắc): less densely compacted.
○ Heterochromatin (dị nhiễm sắc): highly condensed, transcriptionally inactive
form.
Facultative heterochromatin Constitutive heterochromatin
- The DNA areas where genes have been - The DNA sections of the chromosome
silenced by changes -> selectively that remain constant throughout the
triggered in specific conditions, not found cell cycle.
throughout the cell. - Same in all cell types.
- Ex: X chromosome inactive in female - Performs a structural role such as
mammals (one is packaged as facultative centromeres or telomeres.
heterochromatin and silenced, while the - Genes cannot be expressed
other X chromosome is packaged as
euchromatin and expressed).
● Endosymbiotic theory: Endosymbiotic theory (thuyết nội cộng sinh)

The Endosymbiotic theory states that some of the organelles in eukaryotic cells, such as
mitochondria and plastids were once independent prokaryotic cells.
● Human mitochondrial genome:
○ Mitochondrial is provided only by the mother.
○ Mutation in mitochondrial can lead to human genetic disorders.
Mitochondrial DNA | mtDNA | All Mitochondrial genes detail
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CHAPTER II: DNA REPLICATION, MITOSIS, AND

MEIOSIS
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I, Cell division:
"Every cell from a cell"
Remark that:
● In sexual reproduction: offspring are variations of a common theme of family
resemblance, not exact replicas due to the behavior of chromosomes during the
sexual life cycle.
● 46 human chromosomes from a single cell are 2 chromosomes of each of 23
types that are arranged in pairs: a karyotype (nhiễm sắc thể đồ).
● Autosome (nhiễm sắc thường) and sex chromosomes (nhiễn sắc thể giới tính)
XX: The 2 chromosomes of a pair have the same length, centromere position,
and staining pattern (except sex chromosomes XY) -> homologous
chromosomes or homologs (nhiễm sắc thể tương đồng). Both chromosomes of
each carry genes controlling the same inherited characteristics.
● X and Y chromosome (in human male sex chromosomes): only small parts of
the X and Y are homologous, most of the genes carried on the X chromosome
do not have counterparts on the Y, and the Y chromosome has genes lacking on
X.
● A diploid cell (tế bào lưỡng bội - 2n): cell with 2 sets of chromosomes - a
maternal set (mom) and a paternal set (dad).
● A haploid cells (tế bào đơn bội - n): gametes contain a single set of
chromosomes. Ex: humans, the haploid number is 23 including 22 autosomes
and a single sex chromosome (X or Y).
● Each sexually reproducing species has a characteristic diploid and haploid
number.
We have already learned cell cycle, mitosis, and meiosis very carefully during
Cellular Bio in sem I, so in the next part I just summarize some important events. If
you want to revise it more clearly please come back to our outline: LS-FINAL
CELL BIO
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1. Mitosis:
● Stages of mitosis:
● Function:
○ Enable multicellular animal or plant to arise from a single cell
○ Produces cells for growth, repair, and asexual reproduction…
○ Produces gametes in the gametophyte plant.
● Tham khảo thêm:
Cell Cycle and Mitosis
2. Meiosis:
The stages of meiosis: 2 PMAT
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● Remarks:
○ Meiosis: single duplication and two consecutive cell divisions.
-> Result: 4 daughter cells, each with only half a set of chromosomes.
○ Sister chromatids ( 2 copies of one chromosome) stay together due to
sister chromatid cohesion. Sister chromatid cohesion and crossing over,
acting together, play an essential role in the lining up of chromosomes by
homologous pairs at metaphase I.
○ Crossing over and synapsis during Prophase I (tiếp hợp và trao đổi
chéo):
■ Crossovers: occur between the paired bivalents.
■ Genetic recombination (exchange of genetic material).
○ Homologous pairs at the metaphase plate during Metaphase I (các
nhiễm sắc thể tương đồng ở phiến giữa):
■ Chromosomes are positioned at the metaphase plate as pair of
homologs.
○ Separation of homologs during Anaphase I (sự phân ly của các nhiễm
sắc thể tương đồng):
■ The duplicated chromosomes of each homologous pair move
toward opposite poles (but sister chromatids of each duplicated
chromosome remain attached).
● Function:
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○ Production of gametes - sex cells (or sperm and eggs) that have exactly
half haploid cells. When a sperm and an egg join in fertilization, the two
haploid sets of chromosomes form a complete diploid set.
● Tham khảo thêm tại: Meiosis - Plants and Animals
● 3 mechanisms contribute to the genetic variation (biến dị di truyền) arising from
sexual reproduction:
○ Independent assortment of chromosomes (sự phân ly độc lập của cặp
nhiễm sắc thể tương đồng)
○ Crossing over (trao đổi chéo)
○ Random fertilization
(tổ hợp tự do trong
thụ tinh)
● Comparison of
mitosis and
meiosis:
Mitosis Meiosis
Divisions of cells Somatic (body) cells Gametes (sex cells)
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DNA replication During interphase before During interphase before meiosis I

mitosis begins begin
Number of 1 PMAT 2 PMAT (2 sets of cell division)

divisions
Synapsis of No During prophase I along with crossing

homologous over between non-sister chromatids
chromosomes
Number of 2 daughter cells, each 4 cells, each haploid (n), are

daughter cells genetically identical to the genetically different from the parent
and gene parent cell (2n) cell and from each other.
composition
Role in animal or - Replace and repair - Produces gametes (in animals)

plant body - Grow and develop or spores.
- Asexual reproduction - Reduces the number of
chromosome sets by half and
introduces genetic variability
among the gametes or spores.
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3. Cell cycle:
a. The cell cycle control system:
- Stages of the cell cycle:
● Interphase:
○ Phases of interphase:
■ The G1 phase ("first gap"): cell grows, organelles like mitochondria
replicate
■ The S phase ("synthesis"): DNA synthesis
■ The G2 phase ("second gap"): cell growth, centrioles replicate
● Mitotic (M phase):
○ Mitosis
○ Cytokinesis
● Note:
○ Account for 90% of the cycle, intense metabolic activity and growth.
○ The frequency of cell division varies with the type of cell.
■ Ex: skin cells: divide frequently; liver cells reserve until the need to
arise (repair a wound); fully formed nerve cells and muscle cells: do
not divide.
b. Cell cycle checkpoint: a control point in the cell cycle where stop and go-ahead
signals can regulate the cycle.
● Molecules make up the cell cycle control system: cyclins and cyclin-dependent
kinases (Cdks). Cdks must be attracted to cyclin in order to active, that's why the
activity of Cdks rises and falls with changes in the concentration of its cyclin
partner.
● The cell cycle is regulated at 3 important checkpoints which are G1, G2, and M
phases by both internal and external signals.
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● Cancer:
○ 4 basic stages of cancer:
Mutation Tumor growth Intravasation Metastasis
A series of Cancer is large Cancer has spread Cancer has spread to

mutations enough to be felt from the original the other tissue parts
eliminate as a lump. site into of the body.
restraints on cell Angiogenesis surrounding areas.
division. ensues.
● Cancer-related genes:
○ Positive regulator: over-activated (become oncogenic).
○ Negative regulators (tumor suppressors): inactivated.
II. DNA replication:

1. Semi-conservative replication (nguyên tắc bán bảo toàn trong cơ chế nhân đôi
DNA):
- One strand of duplex passed on unchanged to each of the daughter cells. The
"Conserved" strand acts as a template for the synthesis of a new,
complementary strand by the enzyme DNA polymerase.
- Meselson-Stahl experiments:
Trong thí nghiệm, Meselson và Franklin Stahl đã nuôi cấy tế bào E.coli qua một
số thế hệ trong môi trường chứa các nucleotide tiền chất được đánh dấu bằng
đồng vị phóng xạ 15N. Sau đó họ chuyển vi khuẩn sang môi trường chứa động vị
nhẹ 14N. Sau 20 phút và 40 phút, các mẫu vi khuẩn được hút ra tương ứng với 2
lần sao chép DNA. Bằng phương pháp ly tâm họ phân biệt được các phân tử
DNA có tỷ trọng khác nhau.
Lần sao chép đầu tiên: một băng DNA lai 15N-14N -> loại mô hình sao chép kiểu
bảo toàn (conservative model).
Lần sao chép thứ hai: một băng DNA lai 15N-14N và một băng DNA nhẹ hơn 14N-
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N -> loại mô hình sao chép kiểu phân tán (dispersive model).
2. Enzymes and their function:

Helicases Unwind the DNA
Primase Attracts complementary bases to form a "primer" sequence
DNA Add bases to the primer strand by reading the code

polymerase
Ligase Seals the sugar-phosphate backbone back together
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3. Stages of DNA replication:
- Origin of replication: particular sites which is a short stretch of DNA having a

specific consequence of nucleotides for the replication of chromosomes begin at.
(Eukaryotic chromosome may have a few thousand replication origins.)
- Protein that initiates DNA replication: recognize and attaches to the DNA,
separates 2 strands, and opens up a replication "bubble".
- A replication fork:
○ At each end of the replication "bubble".
○ A Y-shaped region where the parental strands of DNA unwound. (several
kinds of proteins participate).
● Helicases:
○ Untwist the double helix at the replication forks.
○ Separating the 2 parental strands and making them available
as template strands.
● After parental strands separate, single-strand binding protein bind
to the unpaired DNA strands to avoid re-pairing.
● Topoisomerase: works at the region ahead of the replication fork to
prevent supercoiling.
- Enzyme primase: synthesis of a primer - a short stretch of nucleic acid
complementary to the template, that provides a 3' end for DNA polymerase to
work on.
- DNA polymerase:
○ Only make DNA in the 5' to 3' direction.
○ Required a pre-existing chain or short stretch of nucleotides: a primer.
○ Proofread: removing the vast majority of "wrong" nucleotides that are
accidentally added to the chain.
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○ In prokaryotes such as E.coli: 2 main DNA polymerases are involved in

DNA replication: DNA pol III and DNA pol I.
- On leading strand: 5' to 3' direction
○ DNA pol III can synthesize a complementary strand continuously toward
the replication fork as helicase unwind the DNA.
○ Only one primer is required.
- On lagging strand: 3' to 5' direction
○ Synthesized discontinuously as a series of segments: Okazaki fragments.
○ Each Okazaki fragment must be primed separately.
○ After Okazaki fragments form, DNA pol I replace the RNA primers by DNA
nucleotides.
○ DNA ligase: seal the gaps between the DNA fragments.
4. Error correction:
● DNA polymerase proofreads new DNA, replacing incorrect nucleotides.
● In mismatch repair, enzymes correct errors that persist.
● Nucleases cut out and other enzymes replace damaged stretches of DNA.
● Telomere:
○ Repetitive sequences at the end of linear DNA molecules, postpones the
erosion of genes.
○ Becoming shorter during every round of replication.
○ Telomerase catalyzes the lengthening of telomeres in germ cells.
5. Mutation rate:
○ RNA viruses have mutation rates higher than that of DNA viruses because
RNA polymerase has no proofreading function, so errors in replication are
not corrected.
○ Human mitochondrial DNA mutates at a higher rate than nuclear DNA.
Due to the absence of protective histone molecules and the proximity of
the mitochondrial genome to the inner mitochondrial membrane (where
ROS are generated).
○ Human mutation rate is higher in the male germ line (sperm) than in the
female (egg cells).
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CHAPTER III: TRANSCRIPTION, TRANSLATION

*****
I. Translation vs Transcription:
Prokaryote Eukaryote
Transcriptio It’s a continuous process. Transcription occurs in the

n and nucleus and translation occurs in
Translation Both transcription and the cytoplasm.
translation occur in cytoplasm
Ribosomes: 40S + 60S = 80S
Ribosomes: 30S + 50S = 70S
II. Transcription:
A. Stages of transcription:
1. Initiation:
● RNA polymerase (RNA pol) blinds to (connect) the promoter (DNA) to separate
the DNA strands
● Providing the single-stranded template (3’-> 5’) needed for transcription and
coding strand (5’ -> 3’, positive stand DNA) doesn’t transcription
● Template stand 3’ -> 5’ (negative strand DNA)
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● Each gene (or group of co-transcribed genes). In bacteria has its promoter
2. Elongation:
● RNA polymerase moves and synthesizes RNA
● Unwound region moves
● Transcription in template stand 3’ -> 5’ -> Created mRNA 5’ -> 3’
3. Termination:
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● Terminators signal (tín hiệu kết thúc) is the sequence the RNA transcript is
complete.
● Release RNA polymerase
Ex: A hairpin in the RNA – a termination mechanism (RHO – independent)
● Release RNA polymerase

● Stop transcription
● DNA duplex reforms
B. Key concepts:
1. Promoters: Binding sites for RNA polymerase on template strand -> A DNA
sequence onto which the transcription machinery binds and initiates transcription.
a. Prokaryote:
25
● Core promoter elements for E.coli:

● - 35 box (~ 6bp): TTGACA
● - 10 box (6-7 bp) (pribnox): TATAAT
● Numbers refer to distance from transcription start site
● Consensus sequences: Strongest promoters match consensus
● Up mutation: Mutation that makes promoter more like consensus
● Down mutation: Virtually any mutation that alters a match with the consenus
b. Eukaryote:
● GC island: A region rich with GC content. Most of the DNA methylation focus on
this region.
● CAAT box: Around -80 nu before the start transcription site.
● TATA box: Around -35 nu before the start transcription site.
II. Different between transcription in Eukaryote and Prokaryotes:
26
27
III. Translation:
A. Key players:
- Messenger RNA (mRNA) carries the information from a gene in DNA
- Ribosomes, made of ribosomal RNA (rRNA), consist of a subunit and carry out an
enzyme-like role.
28
- Transfer RNA (tRNA): Carries specific amino acids to the ribosome
- Translation:
B. Stage of translation:
1. Initiation:
a) Prokaryote:
- The larger ribosomal subunit binds to the smaller unit, forming a ribosomal complex. The
tRNA binds to the first active site on the ribosome ( start codon: 5’ AUG 3’ in mRNA).
29
-> Translation start
2. Elongation:
- The second codon in mRNA matches (GUU) the anticodon of a tRNA carrying the amino
acid Valine (CAA). The second tRNA blinds to the second active site on the large
subunit.
- A catalytic site on the larger subunit binds the two amino acids together using
dehydration synthesis, forming a peptide bond between them.
30
- The first tRNA now detaches and goes of to find another Met in the cytoplasm. The
mRNA chain shifts over one codon, placing the second codon (CAU) over the active site.
3. Termination:
- When tRNA meets 1 of 3 stop codon (5’UAA3’ ; 5’UAG3’; 5’UGA3’)
-> Stop translation
IV. Protein:
A, Protein folding:
- Proteins are the functional part of a cell

● Cellular “machinery” or tools
● Cannot function as a flat chain of amino acids
● Instead need to fold in very specific confirmation to function properly
B, Protein’s structure:
31
● Four levels of structure:

○ Primary structure: Amino acid sequence linked together by peptide bonds
○ Secondary structure: Poly-peptide folding into α helix, β sheet, or coil
○ Tertiary structure: Overall structure of the entire protein
○ Quaternary structure: Peptide sub-units come together.
C. Proteins:
- Sometimes protein sequence can fold in more than one-way
- Central dogma:
32
33
Chapter IV: Mutation, Variation, and Markers

*****
I. Genetic mutations:
1. Overview
● In higher eukaryotes (plants, animals), genomes tend to be larger (contain
more introns): Only 1.59% of the human genome is exons.
● Mutations: Changes in the nucleotide sequence of DNA:
○ occur in somatic cells: not passed on to offspring.
○ gametes (eggs and sperms): may be passed.
● · Rate of mutation
○ RNA viruses: 10-6 to 10-8 (DNA); RNA: 10-3 to 10-5
○ Human: 10-8. Many mutations are repaired by enzymes => 10-10
base/generation.
○ Almost all mutations are neutral (trung tính), có thể có lợi.
○ Chemicals and UV increase mutation rate.
○ Some types of skin cancer and leukemia resulted from somatic
mutations.
2. Types:
● Chromosome mutations (Vật chất di truyền cấp độ tế bào)
○ Deletion (mất đoạn) - breakage.
○ Inversion (đảo đoạn) - một đoạn nào đó đứt ra và đảo ngược 180 độ.
○ Translocation (chuyển đoạn) - involves nonhomologous chromosomes.
○ Nondisjunction (anaphase: failure of the chromosomes to separate, which
produces daughter cells with abnormal numbers of chromosomes; nếu xảy
ra ở meiosis: gametes have the abnormal number of chromosomes).
○ Duplication (lặp đoạn): xảy ra do sự tiếp hợp và trao đổi chéo không cân
giữa các chromatid trong cặp NST tương đồng.
● Gene mutations: Vật chất di truyền cấp độ phân tử.
(May be due to copying errors, chemicals, viruses, etc.)
● Point mutations (đột biến điểm) change a single nucleotide.
○ Bệnh hồng cầu lưỡi liềm (sickle cell disease) là kết quả đột biến điểm thay
thế 1 nucleotide trong hemoglobin gene.
○ Substitutions
34
○ Insertions:
○ Deletions
○ Frameshift (lệch khung): inserting/deleting nucleotide => incorrect
proteins.
II. Genetic Variations
Genetic variations underlie phenotypic differences
1. RFLP – Restriction fragment length polymorphism.
- By the presence/absence of a restriction site.
2. SSR – Simple sequence repeat
- By amplifying microsatellites in the genome.
3. VNTRs – Variable Number Tandem Repeats.
- A VNTR is a location in a genome where a short nucleotide sequence is organized

as a tandem repeat, can be found on many chromosomes, and length differs
between individuals.
4. SNP – Single nucleotide polymorphism.
- A variation in a single nucleotide between members of species or paired

chromosomes in an individual.
- The most common type of sequence variation (~ 90%)
- Ở cùng một người:
Heterozygous: nucleotide khác nhau.
Homozygous: giống nhau.
- Allel frequency = % allele có nucleotide đó (major and minor allele)

- MAF – Minor Allele Frequency: The MAF is the second most frequent allele
value. Distinguishes common polymorphism from rare variants (MAF < 0.01)
5. Application:
● DNA fingerprints (VNTRs and SSR)

● DNA fingerprint = set of VNTR fragments from an individual genome.
35
○ Use for paternity testing

● STR loci
○ 16 STR markers were used by FBI for paternity testing or criminal
investigation.
36
Chapter V: Mendel’s Law
I. Mendel’s laws
1. Phương pháp nghiên cứu:
● Cross two pure strains (opposite in phenotypes) of pea plants.

● Monohybrid cross: phép lai một cặp tính trạng; Dihybrid cross: lai hai cặp
tính trạng.
2. Law of Dominance:
● For each character, an organism inherits 2 alleles, one from each parent.
(homozygous: đồng hợp, hetezozygous: dị hợp)
● Determine appearance: dominant allele (trội); no noticeable effect: recessive
(lặn)
3. Law of Segregation (Quy luật phân ly)
● The alleles for a trait separate when gametes are formed and randomly
united at fertilization => ensure variations
● Arrived at this conclusion by performing monohybrid crosses.
4. Law of Independent Assortment (Quy luật phân ly độc lập)
● Dihybrid cross: tỉ lệ kiểu hình 9:3:3:1 ở F2

● Each pair of alleles (different characteristics) segregate independently: non-
homologous chromosomes align independently (Metaphase 1 – meiosis).
● Only true if alleles are on separate chromosomes.
5. Principle of Uniformity in F1 (Quy tắc đồng dạng)
● F1 offsprings of a monohybrid cross of true-breeding strains (dòng thuần
chủng) resemble only one of their parents.
II. Exceptions to Mendel’s original principles:
1. Incomplete dominance (Trội không hoàn toàn)
● Neither allele is dominant => Aa (heterozygous individuals have
intermediate phenotype)
2. Codominance (Hiệu tượng đồng trội)
37
● Both alleles are expressed in Aa

● E.g. ABO blood types
3. Polygenic Traits (Tính trạng do nhiều gen quy định)
● Traits that are controlled by the combined interaction of many gene loci.
● Show continuous variation, rather than a few discrete forms.
4. Epistasis (Tương tác gen)
● Type of polygenic inheritance where alleles at one gene locus can hide or prevent
the expression of alleles at another locus.
5. Pleiotropy (Gen đa hiệu)
● A single gene locus affects more than one trait.
6. Environmental Effects ( Ảnh hưởng của môi trường)
● Phenotype depends on both genotype and the environment.
III. Mendelian Human diseases:

1. Huntington’s disease:
● An inherited disorder that causes nerve cells (neurons) in parts of the brain to
gradually break down and die. The disease attacks areas of the brain that help to
control voluntary (intentional) movement, as well as other areas.
2. Cystic fibrosis:
● Definition: a genetic condition caused by a faulty gene that affects the movement
of salt and water in and out of cells. This, along with recurrent infections, can
result in a build-up of thick, sticky mucus in the body's tubes and passageways –
particularly the lungs and digestive system.
3. Hemophilia – Bệnh máu khó đông:
● Caused by a faulty gene that affects the movement of salt and water in and out of
cells. This, along with recurrent infections, can result in a build-up of thick, sticky
mucus in the body's tubes and passageways – particularly the lungs and digestive
system.
38
39
CHAPTER VI: LINKAGE DISEQUILIBRIUM AND

HARDY-WEINBERG EQUILIBRIUM
****
A. Linkage disequilibrium
I. Gene recombination
● Crossing over and recombination increase genetic diversity.
II. Gene mapping
● Genetic mapping provides information about the physical location of a

specific gene along a chromosome.
● x% crossing over (recombination frequency) => the distance = x cM
B. Hardy-Weinberg Equilibrium
The Hardy-Weinberg equilibrium is a principle stating that the genetic variation in a
population will remain constant from one generation to the next in the absence of
disturbing factors. When mating is random in a large population with no disruptive
circumstances, the law predicts that both genotype and allele frequencies will remain
constant because they are in equilibrium.
● Allele frequency will not change from generation to generation.

● Genotype portions determined by the “square law”
2 2 2
Two alleles ( p+q ) =p + 2 pq+ q =1
2 2 2 2
Three alleles ( p+q +r ) = p +q +r +2 pq+2 qr + pr=1
40
CHAPTER VII: INTRODUCTION TO EPIGENETICS

*****
A- Differentiation (Biệt hóa):

- Trong giai đoạn phôi thai phát triển, tế bào không chỉ gia tăng về số lượng mà còn trải
qua quá trình biệt hóa tế bào là quá trình tế bào trở nên chuyên hóa về cấu trúc và chức
năng.
41
B- Epigenetics ( Di truyền biểu sinh):

- Epigenetics refers to the study of changes in the regulation of gene activity and
expression that are not dependent on gene DNA sequence.
- While epigenetics often refer to the study of single genes or sets of genes, epigenomics
refers to more global analyses of epigenetic changes across the entire genome.
- A subset of genes is expressed in each cell type. The uniquely expressed genes allow
these cells to carry out their specific function. The differences between cell types,
therefore, are due not to different genes being present, but to differential gene expression,
the expression of different genes by cells with the same genome.
42
- While the greater complexity of eukaryotic cell structure and function provides
opportunities for regulating gene expression at many additional stages. In this lecture,
we’ll examine some of the important control points of eukaryotic gene expression more
closely, which are RNA interference, Histone modifications, and DNA methylation.
43
I- DNA methylation
a. Cơ chế
- Một bộ các enzyme có thể metyl hóa các bases nhất định, thường là base loại Cytosine
( gắn thêm gốc -CH3 vào Carbon số 5)
- DNA được methyl hóa xuất hiện ở giới động vật, thực vật và giới nấm.
- Các đoạn dài của DNA không hoạt động, chẳng hạn như nhiễm sắc thể X của động vật có
vú bị bất hoạt, thường bị methyl hóa nhiều hơn so với các vùng của DNA được phiên mã
tích cực (mặc dù vẫn có những trường hợp ngoại lệ). Tương tự với quy mô nhỏ hơn là
các gene được methyl hóa sẽ không được biểu hiện.
- Loại bỏ các gốc methyl được gắn vào base có thể kích hoạt trạng thái hoạt động của gene.
- Sau khi được methyl hóa, các gen sẽ tồn tại dưới dạng này trong suốt đời sống cá thể
thông qua quá trình phân chia tế bào chính xác.
- Quá trình methyl hóa DNA chỉ được “xóa” và tái thiết lập trong quá trình phát sinh giao
tử.
b. Vai trò
- Imprinting: ( Tham khảo: In vết gene là quá trình một bản sao của gene được biểu hiện
trong khi bản sao còn lại bị bất hoạt. Bản sao được biểu hiện phụ thuộc việc nó di truyền
từ bố hay từ mẹ)
- X chromosome inactivation : (Tham khảo: Ở động vật có vú, giới cái có 2 NST X. Tuy
nhiên có một NST X bị bất hoạt từ giai đoạn phôi sớm. Do đó ở cả hai giới, các tế bào có
cùng liều lượng gene hoạt động. Hiện tượng một NST X bị bất hoạt ở giới cái được gọi là
thể Barr)
- Heterochromatin maintenance ( Tham khảo: Duy trì trạng thái dị nhiễm sắc- NST cô đặc,
đóng xoắn=> bộ máy trong tế bào không tiếp cận được các vị trí đặc thù trên DNA để
tiến hành quá trình sinh tổng hợp)
- Developmental controls ( Tham khảo: Điều khiển “bật” hoặc “tắt” các gene để phù hợp
với mỗi giai đoạn phát triển)
- Tissue-specific expression controls ( Tham khảo: Các mô khác nhau không phải do khác
biệt về hệ gen mà bởi sự biểu hiện của các gen khác nhau bởi các tế bào có cùng bộ gen)
II- Histone modification
a. Cơ chế
44
- Điểm cuối đuôi N ( N- termini tails) của mỗi protein histone trong nucleosome nhô ra
ngoài có thể dễ dàng tiếp cận với các enzyme biến đổi khác nhau xúc tác cho việc bổ
sung hoặc loại bỏ một số loại gốc như acetyl (¬COCH), methyl, và nhóm phosphate.
- Thông thường, histone được acetyl hóa ( được gắn gốc acetyl vào một loại aa ở đuôi
histone) => Dãn xoắn cấu trúc NST và thúc đẩy quá trình phiên mã.
Gắn thêm gốc methyl -CH3 vào histone làm cô đặc NST và ức chế quá trình phiên mã.
- Việc bổ sung một số gốc cụ thể có thể tạo ra một vị trí liên kết mới cho enzyme tiếp tục
chỉnh sửa cấu trúc NST theo nhiều cách khác nhau.
b. Vai trò
- Repression
- Activation
45
III- Interference RNA

a. Cơ chế
- Can thiệp RNA (RNAi) là cơ chế ức chế biểu hiện gen ở giai đoạn dịch mã hoặc bằng
cách cản trở quá trình phiên mã của gen cụ thể.
- iRNA cho phép phức hợp liên kết với bất kỳ phân tử mARN nào có trình tự bổ sung với
nó. Phức hợp sau đó làm phân giải mRNA đích hoặc, có thể ngăn chặn mRNA tham gia
dịch mã.
b. Vai trò
- Degradation of mRNA
- Translation inhibition.
46

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FINAL EXAMINATION REVIEW

Xin chào mọi người,

CHAP I: DNA (DEOXYRIBONUCLEIC ACID), RNA

Explain the experiment:

2. Avery, Macleod, McCarty:

3. Hershey and Chase: viral DNA can program cells

I. Discovering the structure of DNA:

Sugar deoxyribose ribose

Bases A,G,C,T A,G,C,U

Strands Double strands Single strand

Genetic Most life Some viruses

● Structure of DNA: double helix (right-handed double-helical structure)

● A=T: base pair has 2 hydrogen bonds.

Messenger RNA (mRNA) Carries information from DNA in the nucleus to

Ribosomal RNA (rRNA) Structural components of ribosomes.

III. Prokaryotic and eukaryotic genomes:

● Endosymbiotic theory: Endosymbiotic theory (thuyết nội cộng sinh)

CHAPTER II: DNA REPLICATION, MITOSIS, AND

Divisions of cells Somatic (body) cells Gametes (sex cells)

DNA replication During interphase before During interphase before meiosis I

Number of 1 PMAT 2 PMAT (2 sets of cell division)

Synapsis of No During prophase I along with crossing

Number of 2 daughter cells, each 4 cells, each haploid (n), are

Role in animal or - Replace and repair - Produces gametes (in animals)

A series of Cancer is large Cancer has spread Cancer has spread to

II. DNA replication:

2. Enzymes and their function:

Primase Attracts complementary bases to form a "primer" sequence

DNA Add bases to the primer strand by reading the code

Ligase Seals the sugar-phosphate backbone back together

3. Stages of DNA replication:

- Origin of replication: particular sites which is a short stretch of DNA having a

○ In prokaryotes such as E.coli: 2 main DNA polymerases are involved in

CHAPTER III: TRANSCRIPTION, TRANSLATION

Transcriptio It’s a continuous process. Transcription occurs in the

Ex: A hairpin in the RNA – a termination mechanism (RHO – independent)

● Release RNA polymerase

● Core promoter elements for E.coli:

II. Different between transcription in Eukaryote and Prokaryotes:

- Transfer RNA (tRNA): Carries specific amino acids to the ribosome

-> Translation start

- When tRNA meets 1 of 3 stop codon (5’UAA3’ ; 5’UAG3’; 5’UGA3’)

-> Stop translation

- Proteins are the functional part of a cell

● Four levels of structure:

- Sometimes protein sequence can fold in more than one-way

Chapter IV: Mutation, Variation, and Markers

II. Genetic Variations

Genetic variations underlie phenotypic differences

1. RFLP – Restriction fragment length polymorphism.

- By the presence/absence of a restriction site.

2. SSR – Simple sequence repeat

- By amplifying microsatellites in the genome.

3. VNTRs – Variable Number Tandem Repeats.

- A VNTR is a location in a genome where a short nucleotide sequence is organized

4. SNP – Single nucleotide polymorphism.

- A variation in a single nucleotide between members of species or paired

Heterozygous: nucleotide khác nhau.

Homozygous: giống nhau.

- Allel frequency = % allele có nucleotide đó (major and minor allele)

● DNA fingerprints (VNTRs and SSR)

○ Use for paternity testing