Cell & Human Genetics

MLS 1223
Course Objectives
1) To provide students with
knowledge and
comprehension of cell biology,
human genetics and
associated diseases.
2) To provide students with the
basic techniques of cell and
human genetics.
 References
Main 1. Lewis R. (2005). Human Genetics: Concepts
Reference and Applications. 6th Ed. McGraw Hill. New
York, USA.
Additional 1. Gelehrter T.D., Collins F.S., Ginsburg D.
Reference (2000). Principle of Medical Genetic. 2nd
edition Lippincott Williams & Wilkins.
Pennsylvania.

2. Hartwell L.H., Hood L., Goldberg M.L.,

Reynolds A.N., Silver L.M., Veres R.C. (2004).
Genetics: From genes to genomes. 2nd Ed.
McGraw Hill. New York, USA.

Main Reference
 Assessment – HS403
Assessment Topics in When? Marks
Assignment 1st meeting Submission on 4th 10%
meeting
Quiz 1st and 2nd 3rd meeting 10%
meeting
Midterm 1st, 2nd and 3rd 4th meeting 20%
Examination meeting

Final All topics 60%

Examination (1st to 5th
meeting)

Total 100%
 Slot 1
Cell and Genetics
Level of biological organization
 Level of genetics

Watch Level of
Genetics Animation
General terms
in genetics
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
 Complete set of genes of an
Allele
organism.
Genetic code
 Complete set of genetic
instructions in the cells.
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
The study of the functions and
Allele
interactions of many genes, DNA
Genetic code
sequences, comparing genome.
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
A highly wound continuous
Allele
molecule of DNA and the proteins
Genetic code
wrapped around it.
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
Chromosome that does not have a
Allele
gene that determine sex.
Genetic code
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA Chromosome XY Chromosome XX
Gene (Male) (Female)
Exon
Intron
Chromosome containing genes that
Allele
specify sex.
Genetic code
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron The number and appearance of chromosomes
in the nucleus of a eukaryotic cell.
Allele It is a complete set of chromosomes in a
Genetic code species, or an individual organism.
Human: 23 pairs of chromosomes.
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron Deoxyribonucleic acid: The genetic
Allele material or biochemical that forms
Genetic code gene. DNA double helix?
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
A segment of DNA that instructs a
Allele
cell to produce a particular protein.
Genetic code
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
Part of gene that encodes amino
Allele
acids.
Genetic code
Amino acid?
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
Part of gene that is transcribed but
Allele
is excised from the mRNA before
Genetic code
translation into protein.
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
A different form of a gene.
Intron
Alleles occupy the same locus, or
Allele
position, on chromosomes.
Genetic code
 General terms in genetics
Genome
Genomics
Chromosome
Autosome
Sex chromosome
Karyotype
DNA
Gene
Exon
Intron
The correspondence between
Allele
specific mRNA triplets and the
Genetic code
amino acids they specify.
5’ 3’

GUG?

CCU?

UCA?

UAG?

AUG?
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype The building block of a nucleic acid,
Gamete consisting:
Phosphate + nitrogenous base + 5-carbon sugar
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype Nucleoside consists of a nitrogenous
Gamete base covalently attached to a sugar
(ribose or deoxyribose) but without
the phosphate group:
nitrogenous base + 5-carbon sugar
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype
Gamete
Single base sites that differ among
individuals
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms A change of the nucleotide
Mutation sequence of the genome of an
Heterozygous organism (Example: alteration of
Homozygous single base units in DNA, or the
Genotype deletion, insertion, or
Phenotype rearrangement of larger sections
Gamete of genes or chromosomes)
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype
Gamete
Having two different alleles of a
gene
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype
Gamete
Having two identical alleles of a
gene
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms  Genetic make-up of an organism.
Mutation  The allele combinations in an
Heterozygous individual that cause particular
Homozygous traits or disorders.
Genotype
Phenotype
Gamete
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms  The expression of a gene in traits
Mutation or symptoms.
Heterozygous  Physical manifestation of an
Homozygous inherited trait or disease.
Genotype
Phenotype
Gamete
Genotype and phenotype
 Genotype and phenotype

Apolipoprotein E gene

E2 E3 E4
allele allele allele
associated with
risk of Alzheimer’s
disease (AD)
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Homozygous
Genotype
Phenotype
Gametes Sex cells → ovum and sperm
Number of chromosomes
 General terms in genetics
Nucleotide
Nucleoside
Single nucleotide polymorphisms
Mutation
Heterozygous
Nonsex cells
Homozygous
Genotype
Phenotype
Gametes
Somatic cells
Somatic cells

Epithelial cells
Somatic cells

Muscle cells

(Myocyte)
Somatic cells

Blood cells

(Leukocytes)
(Erythrocytes)
Somatic cells

(Neuron)
Cells
 Cells
• Cells are the basic building blocks of all living
things.
• The human body is composed of around
trillions of cells.
• They provide structure for the body, take in
nutrients from food, convert those nutrients
into energy, and carry out specialized
functions.
Organelles: function & structure
 Transportation
across the cell membrane
 Transportation
across the cell membrane
The cell cycle
Interphase
G1 = Growth & preparation for
DNA synthesis
S = Replication of DNA
G2 = Growth & preparation for
mitosis

Prophase
Metaphase Mitosis
Anaphase
Telophase

Cytokinesis – cell separates

G0: when a cell decides which course of

action to follow (Proceed to division,
remain specialized, or cell death)
Mitosis

Watch Mitosis
Animation
 Mitosis
1 2 3 4
Apoptosis
 Cell-cell interaction
1) Signal Transduction
* Transduce is to change one form of something
(eg. energy or information) into another.
* The cell changes various type of stimuli into
specific biochemical reactions.
* A single stimulus can trigger the production of
2nd messenger molecules: the way signal
transduction amplifies incoming information.
Signal Transduction
 Cell-cell interaction
2) Cellular Adhesion
* Cell adhesion is the binding of a cell to a surface,
such as an extracellular matrix or another cell,
using cellular adhesion molecules (CAMs).
* Eg. of CAMs: selectins, integrins, or adhesion
receptor protein.
* Normally, leukocytes circulate in blood
unattached.
* Inflammation → leukocytes move in the
circulation to the injured or infected body part.
Cellular adhesion
Assignment
(10%)
 Assignment 10%
• Write an essay entitled:

“Genetics of People with Diabetes Mellitus”

• Handwriting only
• Don’t forget to put your name and student ID on the paper.
• Make a photocopy of your essay, and send original copy to me.
Kindly please keep your photocopied essay.
• How long is the essay? At least the essay is full for TWO pages of
paper.
• Submit on/before 4th meeting
 Thank you
You can have a softcopy of this lecture note at:

www.cell-and-human-genetics.blogspot.com

Should you have any question, please do not

hesitate to contact me