Module 4: GENETICS
1) Genetics
CLO #1: Review the Methods of Cell Division
1. Mitosis
● Body cells or somatic cells
● Reduction is the process in which cell division
yields exact replication -> chromosomes: constant
● Division of the nucleus
● 1 parent cell = 2 daughter cells
● Normal cell division growth
a. Chromosomes duplicate before division
b. Mitotic division separates each part of
duplicated chromosomes
c. Each daughter cell receives one
identical copy of every chromosomes
present in the parent cell
● PHASES IN MITOSIS: (PMAT)
I. Prophase (P - pro means before)
- Chromosomes are attached to
the centromere
- Centrioles separate from each
other and move toward the
opposite sides of the cell
- Appearance of the mitotic
spindle
- Chromosomes appear
condensed
- Nuclear envelope not
apparent
II. Metaphase (M - middle)
- Chromosomes are aligned at
the center of the spindle
midway between centrioles
III. Anaphase (A- away)
- Divided chromosomes are
drawn apart and collected at
the opposite roles of the cell
to form 2 separate nuclei
- Splitting chromatids
- Chromosomes move slowly
apart toward the opposite end
- Ends when the chromosomes’
movement stops
IV. Telophase (T - two identical cells)
- Formation of the cleavage
furrow
- Chromosomes at opposite
end uncoil to become
threadlike chromatin again
- “Reverse prophase”
2. Meiosis
● Reduction of all division
● Sex cells/gametes - Mature gamete: haploid
● 1 parent cell = 4 daughter cells
● Occurs for the most part only in the gonads (testes
and ovaries)
● Spermatogenesis and oogenesis
● Each daughter cell receives only ½ of the genetic
material in the parent cell
● Not identical to each other
● “Reduction Division”
CLO #2: Definition of Terms
- Study of the way genetic disorders occur
- Branch of biology dealing with the phenomena of
heredity and the laws governing it.
2) Genes
- Basic units of hereditary that determine both the
physical and cognitive characteristics of people
- Units of information about scientific traits or locus
- Sequence of nucleotides in DNA or RNA that
codes for a molecule that has a function
3) Genome
- Complete set of hereditary factors contained in
diploid set of chromosomes
- 20, 500 human genes (Human Genome Project)
- complete
4) Chromatids
- One of the two identical parallel DNA and found
within the nuclei of the cell that carries genetic
information
- Contains a double helix of DNA
5) Cytogenesis
- Study of chromosomes by light microscopy
- Method by which chromosomal abnormalities are
identified.
6) Genetics Counselling
- Communication process by which the family is
supplied with the information necessary to make
informed decisions about their unborn child
7) Genetic Disorders (inherited disorders)
- Disorders can be passed from one generation to
the next
- Result from a disorder in gene or chromosome
structure
- Occur at the moment an ovum and sperm fuse or
even earlier (meiotic division)
- Occur in some ethnic groups more than others
8) Somatic Cells
- 46 chromosomes (diploid); body cells
9) Sex Cells
- Haploid eggs or sperm containing half the number
of chromosomes
- Only 23 chromosomes
- Meiosis
10) Genome
- Complete set of hereditary factors contained in the
diploid set of chromosomes
- A person’s complete set of genes
- Carries all hereditary material of tightly coiled
strands (DNA)
11) Chromosomes
- Thread-like structures of nucleic acids and protein
found in the nucleus of most living cells
- Carries genetic information in the form of genes.
- Organized structure of DNA and proteins found in
the cells
12) Deoxyribonucleic Acid
- Double stranded helix;
- Blueprint of life
13) Allele
- Alternate forms of the same gene from a sperm
and ovum
- Two like genes for every trait excluding the sex
chromosomes
- Dominant or recessive
- Different molecular form of a gene
14) Phenotype
- Outward or physical appearance/ expression of
the genes
Ex. height, hair color, eye color
15) Genotype
- Pattern of genes on the chromosomes
- Actual gene composition
16) Dominant Gene
- Allele that produces an effect regardless of the
state of the corresponding allele.
- Aa
17) Recessive Gene
 - Non-dominant 1. Principle of SEGREGATION
- Reduces an effect only when it is transmitted by - Pair of alleles of each parent separate
both parents - Only one allele passes from each parent to
- aa offspring
18) Homozygous 2. Principle of INDEPENDENT ASSORTMENT
- Having two like genes; - Pair of alleles are passed to offspring
- AA, aa independently of each other
19) Heterozygous 3. Principle of UNIFORMITY
- Having 2 different genres; - All the progeny of a cross will appear as identical
- Aa
20) Carrier DOMINANCE RELATIONS / LAW OF DOMINANCE
- An individual who is heterozygous for the 1. COMPLETE DOMINANCE
abnormal gene & clinical normal.
a. Heterozygous dominance
- Carry certain diseases
21) Trisomy b. Dominant allele completely masks the effect of the
- A genetic abnormality in which there are 3 copies recessive allele
instead of the normal two, of a particular 2. INCOMPLETE DOMINANCE
chromosome a. Heterozygous phenotype is somewhere between
22) Monosomy that of two homozygotes
- Presence of only one chromosome b. One allele for a specific trait is not completely
23) Mosaicism
expressed over its paired allele
- The presence of 2 or more sets of cells that differ
in their genetic make-up 3. CODOMINANCE
24) Aneuploidy a. Non-identical alleles specify two phenotypes that
- Numerical chromosome errors resulting to major are both expressed in heterozygous
developmental defects and care incompatible with b. Two alleles of the same gene are both expressed
life
- Abnormal number of chromosomes ● Multiple alleles
25) Dermatoglyphics
- More than 1 allele can inherit characteristics
- Study of surface markings of the skin
- Useful in detecting abnormal fingerprints, palmar ● Epistasis
creases, hair whorls, and abnormal coloring of - Gene or locus that suppress/masks the action of a
hair. gene at another locs
26) Karyotype - Interaction of genes that are not alleles
- Visual representation of the chromosome pattern
of an individual
27) Mitosis
- Which cell division yields exact replication of the
parent cell
- Number of chromosomes remain constant
28) Meiosis
- Gametes are created
- Mature gamete contains only haploid number of
chromosomes

THE BLENDING THEORY OF INHERITANCE

➢ An obsolete theory in biology from the 19th century
➢ Explained that children inherit any characteristic as the
average of the patient’s value of that characteristic

I. Gregor Model
➢ father of genetics
➢ proposed the particulate inheritance theory and
used pea plants (pisum sativum) to how variation
can be inherited and maintained over time
➢ particulate inheritance theory - phenotypic traits
(observable traits - eye and hair color, height) can
be passed from generation through discrete
particles known as genes

ALLELE COMBINATIONS
1. Homozygous - 2 like genes for a trait
2. Heterozygous - genes differ

INHERITANCE
1. Single gene inheritances
2. Polygenic inheritance - punnett square does not
apply

MENDELIAN INHERITANCE PRINCIPLES INHERITANCE OF DISEASE

 I. Single Gene Inheritance 1. Cystic Fibrosis
A. AUTOSOMAL 2. Albinism
- Either a person has two unhealthy 3. Tay-Sachs Disease
genes (?) 4. Limb-Girdle Muscular Dystrophy
- Homozygous dominant 5. Hemochromatosis
- Or is hetero with the gene causing the 6. Phenylketonuria (PKU)
disease stronger than the corresponding 7. Galactosemia
healthy recessive gene, 8. Androgenital Syndrome
➔ B - dominant
➔ B - recessive ➢ AR Inheritance Characteristics
- Ex. Possible inheritance of eye color ○ Bothe parents of a child with the disorder are free
of the disease
(not sure with this sample. Notes were blurry) ○ Sex is important
B = Brown (dominant) ○ Negative family history -> no one can identify
B = blue (recessive) which members have the disease
○ A known common ancestors as parents could be a
B (father) B (father) factor

(mother) b Bb Bb X-LINKED DOMINANT DISORDERS

● Disorders are located on transmitted sex. Therefore, only by
(mother) b bB bB female sex chromosomes (x)
1. Hypophosphatemia
- A form of rickets (osteomalacia)
B b
- Causes bone deformity
2. Rett Syndrome
b bB bb
- Neurodevelopmental disorder of the gray matter of
the brain
B bB bb

➢ X-DI Characteristics
B. X-LINKED ○ All individuals with gene are affected
- X - linked dominant ○ All female children of affected men are affected
- X - linked recessive ○ All male children of affected men are unaffected
C. Y-LINKED INHERITANCE ○ Appears in every generation
- No known diseases are inherited by y- ○ All children of homozygous affected women are
chromosome transmissions affected: 50% of the children of heterozygous
affected women are affected
AUTOSOMAL DOMINANT (AD) DISORDERS
1. Huntington’s Disease X-LINKED RECESSIVE DISORDERS
- Progressive neurological disorder 1. Hemophilia A
- Begins between 35-45 years old - Factor VII deficiency
- Loss of motor control and intellectual deterioration - Classic Hemophilia
2. Facioscapulohumeral Muscular Dystrophy (FUD) - Homozygous Recessive
- Genetic muscular disorder wherein the muscles of - Bleeding disorders
the face, shoulder blades and upper arms are the 2. Hemophilia B
most affected - Factor XI
3. Osteogenesis Imperfecta - Christmas Disease
- Joints loosen - Bleeding disorders
- Bone fractures 3. Color Blindness
- Poor muscle tone 4. Fragile X Syndrome
- Exceeding brittle - Cause of inherited mental impairment
- “Brittle bone disease”
4. Marfan Syndrome ➢ X-RI Characteristics
- Affects connective tissue ○ Only males in the family will have the disorder
- Tan and thin, long limbs, scoliosis ○ A history of girls dying at birth for unknown
5. Waardenburg Syndrome reasons often exists
- Pale blue eyes ○ Sons of affected man are unaffected
- White lock of hair -> premature graying of the hair ○ Parents of the affected children do not have the
disorder
➢ AD Inheritance Characteristics:
○ One of the parents of the child with disorder will II. Multiple Genes / Polygenic Inheritance
also have the disorder - Caused by multiple factors
○ Sex of the affected individual doesnt matter - Diabetes; RH incompatibility
○ History of disorders in the family
III. Mitochondrial Inheritance
- Mitochondria control their own DNA
- Maternally inherited
- Wolfram's disease, Kearns-sayre disease
AUTOSOMAL RECESSIVE (AR) DISORDERS IV. Chromosomal Abbreviations
 A. Number - aneuploidy (nondisjunction
chromosomes)
a. Autosomal Aneuploidy / Body
Chromosomes
i. Trisomy 21
- Down syndrome
- 47xy21+ / 47xx21+
ii. Trisomy 13
- Patau syndrome
- 47xy13+ / 47xx13+
iii. Trisomy 18
- Edward’s syndrome
- 47xy18+ / 47xx18+
b. Sex Chromosomes
i. Turner’s Syndrome (45xo)
ii. Klinefelter Syndrome (47xxy)
iii. 46xy23Q - Fragile X
B. Structure
a. Deletion
- Part of the chromosomes
break during the cell division
- Can happen in every
chromosome
b. Translocation
- Chromosome part is
transferred from one
chromosome to another;
misscariiage
- Balanced: even exchange
- Unbalanced: abnormalities
(thyroid cancer,
schizophrenia)
c. Mosaicism
- Nondisjunction at fertilization
of ovum
- Teratogenic condition may
have occurred
- Mosaic down syndrome
(presence of two or more ---
cells that differ their genetic
makeup but --- from a single
cell)
d. Isochrones
- Chromosomes divide
horizontally
- Pallister - Killian Syndrome
e. Inversions
GENETIC COUNSELLING
- Before pregnancy
- Purpose:
1. Provide accurate information about inherited
disorders
2. Reassure people who are concerned about any
disease that may inherit their child
3. Allow people who are affected to make informed
choices about future reproduction
4. Offer support by skilled HC (?) professionals to
people
- Individuals That Can Benefit Most From Genetic Counseling:
1. A couple whose child has a congenital disorder
2. A couple whose relatives have a child with a gene
x disorder
3. Any individual who is a known balanced
translocation carrier
4. Inborn error of metabolism
5. A consanguineous (closely-related) couple
6. Any woman older than 35 and any man older than
--somethin yrs--
7. Couples of ethnic backgrounds on which specific
illnesses are known to occur.
CHROMOSOMAL ABNORMALITIES (Cytogenetic Disorders)
1. Nondisjunction Abnormalities
- Uneven division of chromosomes during meiosis
- Result may be the one new sperm cell or ovum
has 24 chromosomes and the other has only 22
- Presence of 45 chromosomes does not appear to
be compatible with life & the embryo/ fetus will be
aborted.
- Examples
● Turner Syndrome
● Trisomy 21 (down syndrome)
● Trisomy 13 & trisomy 18
2. Deletion Abnormalities
- Form of chromosome disorder in which part of a
chromosome breaks during cell division, causing
the affected person to have the normal number of
chromosomes, plus / minus an extra portion of a
chromosome
- Example:
● Cri - du - chal (y6x / 5p+) (???)
3. Translocation
- Normal number of chromosomes (without addition
or minus) just that it is exchanged with one
another
4. Mosaicism
- Abnormal condition
5. Isochrones
- Chromosomes divide horizontally not vertically
- Normal number of chromosomes but different
pairings
________________________________________________________
Additional Notes: (this part is not sure; gubot kaayo ang notes ha ha)
H HH Hh
1. Rule of probability (Medelian theory)
H HH Hh
- Homozygous (two like genes)
- Heterozygous (two differing genes)
➢ 50% - homo; carrier and disease free
PUNNETT SQUARES
➢ 50% - disease free but carrier
A (female) a(female)
H h
(male) A AA Aa
h Hh hh
(male) a aA aa
h Hh hh

➢ 50% - will manifest disease

● DOMINANT
➢ 50% - disease free but carrier
○ H - disease
○ h - healthy

H h ● X-LINKED DOMINANT

H HH Hh X Y

h Hh hh X XX XY

X XX XY
h H
➢ 50% - of female and male
h hh Hh ➢ 50% - of female and male are disease free

H Hh HH
x y

➢ 25% disease free x xx xy

➢ 75% with disease
○ 50% heterozygous y xx xy
○ 25% homozygous (dominant)
■ Not compatible with life
➢ 100% - of female will carry the disease
➢ 100% - of male are healthy
H h

h Hh hh

h Hh hh

➢ 50% - with disease

➢ 50% without disease

● RECESSIVE
○ H - healthy
○ h - disease

H h

H HH Hh

h Hh hh

➢ 75% - disease free

➢ 25% - healthy
➢ 50% -
➢ 25% - with disease

H h