Tagum Doctor’s College Inc.

Genetics

Mary Stephanie P. Chong, RMT, MD

 Definition of Terms
study of individual genes, their role and
function in disease, and their mode of
Human Genetics inheritance

Refers to the genome, and the function and

Genomics interaction of DNA within the genome, as well
as with environmental or nongenetic factors,
such as a person’s lifestyle.

an organism’s entire genetic information

Genome
The Human Genome
Chromosomes
a threadlike structure of nucleic acids and protein
found in the nucleus of most living cells, carrying
genetic information in the form of genes

DNA
a double helix formed by base pairs attached
to a sugar-phosphate backbone

Genes
a functional unit that is regulated by transcription and
encodes an RNA product, which is most commonly, but
not always, translated into a protein that exerts activity
within or outside the cell
TYPES OF CHROMOSOMES
1. Metacentric Chromosome
centromere in the center, such that both sections
are of equal length
chromosome 1 and 3

2. Submetacentric Chromosome
centromere slightly offset from the center leading to
a slight asymmetry in the length of the two sections
chromosomes 4 through 12

3. Acrocentric Chromosome
centromere which is severely offset from the center
leading to one very long and one very short section TTAGGG
chromosomes 13,15, 21, and 22

4. Telocentric Chromosome
centromere at the very end of the chromosome
Chromatin
composed of double-strand DNA that is wrapped around histone
and nonhistone proteins forming nucleosomes
Histone Organization
Nucleosome
comprised of octamers of histone
proteins (two each of histone
subunits H2A, H2B, H3, and H4)
encircled by 1.8 147 bp DNA loops

Histones sit on 20- to 80-nucleotide

stretches of linker DNA between
nucleosomes. Histone subunits are
positively charged, thus allowing
compaction of negatively charged
DNA.

Histones are not static, but rather are

highly dynamic structures regulated by
a host of nuclear proteins
Histone Marks
Histone
Methylation
methylation of histone
lysine residues can lead to
transcriptional activation
or repression, depending
on which histone residue is
marked
Histone Acetylation
Histone
Phosphorylation
modifications tend to open
the chromatin and depending on the
increase transcription. specific residue, the
In turn, these changes can DNA may be opened
be reversed by histone
for transcription or
deacetylases (HDACs),
condensed and
leading to chromatin
condensation inactive
Histone Marks
DNA Methylation
typically result in transcriptional
silencing. DNA methylation is tightly
regulated by methyltransferases,
demethylating enzymes, and methylated-
DNA-binding proteins
Chromatin Organizing
Factors
believed to bind to noncoding regions
and control long-range looping of DNA,
thus regulating the spatial
relationships between enhancers and
promoters that control gene expression
The Human Genome
Chromosomes
a threadlike structure of nucleic acids and protein
found in the nucleus of most living cells, carrying
genetic information in the form of genes

DNA
a double helix formed by base pairs attached
to a sugar-phosphate backbone

Genes
a functional unit that is regulated by transcription and
encodes an RNA product, which is most commonly, but
not always, translated into a protein that exerts activity
within or outside the cell
 Phosphate
DNA backbone

Central Deoxyribose
Dogma of Sugar moiety
Nucleic
Acids
Life
Deoxyribonucleic Acid
Purines (A & G)
Pyrimidines (C & T)
By Francis Crick, 1958
 Promoter & Enhancer regions that provide binding sites

Non-
for transcription factors.

micro-RNAs (miRNAs) and long

Noncoding Regulatory RNA noncoding RNAs (lncRNAs)

coding
“jumping genes” can move around the genome
Mobile Genetic Elements during evolution, resulting in variable copy number
and positioning even among closely related
species

DNA
Binding sites for factors that organize
Chromatin Structures and maintain higher order

Telomeres (chromosome ends)

Special DNA Structural and centromeres (chromosome
Regions “tethers”)
 Single–Nucleotide Polymorphisms

variants at single nucleotide positions and are

almost always biallelic
SNPs occur across the genome—within exons,
introns, intergenic regions, and coding regions

DNA
can occur within genomic regulatory elements,
thereby altering gene expression; in such instances,
SNPs influence disease susceptibility directly

Variations Copy Number Variations

form of genetic variation consisting of different
numbers of large contiguous stretches of DNA
are responsible for between 5 million and 24 million
base pairs of sequence difference between any two
individuals
may underlie a large portion of human phenotypic
diversity
 Cell Cycle
A process of cells
growing, replicating
their genetic material,
and then dividing.

1. Karyokinesis
Nonreductional Mitosis
Reductional Meiosis
2. Cytokinesis
** cyclin B
Mitosis
Prophase
Mitosis
Metaphase
Mitosis
Anaphase
Mitosis
Telophase
Meiosis
5 Stages of Prophase I
1. Leptotene
chromosomes coil down in size and are visible
as individual threads: sister chromatids are in such
close apposition that they are not distinct

2. Zygotene
“bouquet stage”; pairing of homologous
chromosomes

3. Pachytene
chromosomes now continue to shorten and
thicken
Meiosis
5 Stages of Prophase I

4. Diplotene
chromosomes can again uncondense and become
active;
in human females, it begins in the fetus and does
not complete until the egg is shed during ovulation

5. Diakinesis
chromosomes become very condensed
Meiosis
DNA Replication Primase
S Phase an RNA polymerase coded for by the dnaG gene,
creates the primer, ten to twelve nucleotides, at
the site

DNA Polymerase
a polymerase when it adds nucleotides, one at a
time, and an exonuclease when it removes
nucleotides one at a time.

Endonuclease
break the sugar- phosphate backbone in
the middle of a nucleotide strand

Exonuclease
remove nucleotides from the
end of a nucleotide strand

DNA Ligase
making the final phosphodiester bond
in an energy-requiring reaction
GENE
EXPRESSION:
Transcription
Messenger RNA
carries the DNA sequence information to
particles in the cytoplasm known as
ribosomes, where the messenger RNA is
translated

Ribosomal RNA
structural and functional part of the ribosome

Transfer RNA
structural and functional part of the ribosome
GENE
EXPRESSION:
Translation
2020 Marketing Agenda

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