BIOLOGY 2ND SEMESTER (MIDTERMS)

INTRODUCTION TO GENETICS (LESSON 1)

GENETICS – is the study of genes
INHERITANCE – is how traits, or characteristics, are passed on from generation to generation
Chromosomes are made up of genes, which are made up of DNA.
Genetic material (genes, chromosomes, DNA) is found inside the nucleus of a cell.
GREGOR MENDEL is considered “The Father of Genetics"
GENETICS
- Is the scientific study of heredity (how traits are passed from parent to offspring)
 Base pair
 Cell
 Chromosome
 DNA (Deoxyribonucleic Acid)
 Double helix*
 Genes
 Nucleus
GENTICS CONCEPTS
HEREDITY – describes how some traits are passed from parents to their children.
The traits are expressed by genes, which are small sections of DNA that are coded for specific traits.
Genes are found on chromosomes.
Humans have two sets of 23 chromosomes—one set from each parent.
DOMINANT TRAITS – traits that are expressed. (AA)
RECESSIVE TRAITS – traits that are covered up. (aa)
ALLELES – the different forms of a characteristics.
PUNNETT SQUARES – show how crosses are made.
PROBABILITY – the chances/percentages that something will occur.
GENOTYPE – the types of genes (Alleles) present.
PHENOTYPE – what it looks like.
HOMOZYGOUS – two of the same alleles. (AA) (aa)
HERETOZYGOUS – two different alleles.
MENDELIAN INHERITANCE
1. The inherited traits are determined by genes that are passed from parents to children.
2. A child inherits two sets of genes-one from each parent.
3. A traits may not be observable, but its gene can be passed to the next generation.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Each person has 2 copies of every gene—one copy from mom and a second copy from dad. These copies
may come in different variations, known as alleles, that express different traits.
For example, 2 alleles in the gene for freckles are inherited from mom and dad:
- allele from mom = has freckles (F)
- allele from dad = no freckles (f)
- child has the inherited gene pair of alleles, Ff (F allele from mom and f allele from dad).
GREGOR MENDEL
- The Father of Genetics
- He experimented with pea plants and noticed that not all peas are the same.
- Understood that there was something that carried traits from one generation to the next-
“FACTOR”.
- He discovered that crossing peas depended on the genes of the plant rather than only the outward
appearance of the plant.
Mendel's Plant Breeding Experiments
Particulate Hypothesis of Inheritance Parents pass on to their offspring separate and distinct factors (today
called genes) that are responsible for inherited traits.
Mendel was fortunate he chose the Garden Pea

 Mendel probably chose to work with peas because they are available in many varieties.
 The use of peas also gave Mendel strict control over which plants mated.
 Fortunately, the pea traits are distinct and were clearly contrasting.
To test the particulate hypothesis, Mendel crossed true-breeding plants that had two distinct and contrasting
traits—for example, purple or white flowers. What is meant by “true breeding?”
Mendel cross-fertilized his plants by hand. Why is it important to control which plants would serve as the
parents?
For each MONOHYBRID CROSS, Mendel cross-fertilized true-breeding plants that were different in
just one character—in this case, flower color. He then allowed the hybrids (the F1 generation) to self-
fertilize.
Typical breeding experiment
P GENERATION (parental generation)
F1 GENERATION (first filial generation, the word filial from the Latin word for "son") are the hybrid
offspring.
Allowing these F1 hybrids to self- pollinate produces:
F2 GENERATION (second filial generation).
It is the analysis of this that lead to an understanding of genetic crosses.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Mendel studies seven characteristics in the garden pea

 FLOWER COLOR  POD SHAPE

 FLOWER POSITION  POD COLOR
 SEED COLOR  STEM LENGTH
 SEED SHAPE
What did Mendel conclude?
- Inheritance is determined by factors passed on from one generation to another.
- Mendel knew nothing about chromosomes, genes, or DNA. Why?
- These terms hadn’t yet been defined.
WHAT ARE THESE FACTORS?
- The ‘factors” that Mendel mentioned were the genes. (Gene: a specific region of a chromosome
which is capable of determining the development of a specific trait; composed of DNA).
- Each gene has different forms called alleles. (Allele: a pair of genes located at the same place on
a homologous chromosome.)
- Mendel’s second principle stated that some alleles are dominant and some are recessive.
Mendel published his paper on heredity in 1866.
The scientific community saw little if any importance in his work.
Mendel died in 1884 with no recognition for his contributions to genetics.
TRAITS: CHARACTERISTICS
- determined by the genes on the chromosomes.
A TRAIT is a specific characteristic that varies from one individual to another.
Chromosomes come in homologous pairs, thus genes come in pairs.
Homologous pairs – matching genes – one from female parent and one from male parent
Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
WHAT IS AN ALLELE?
- Alleles are the different possibilities for a given trait.
- Every trait has at least two alleles (one from the mother and one from the father)
- Example: Eye color – Brown, blue, green, hazel
Examples of Alleles:
A = Brown Eyes B = Green Eyes
a = Blue Eyes b = Hazel Eyes
 BIOLOGY 2ND SEMESTER (MIDTERMS)

WHAT ARE GENES?

- Genes are the sequence of DNA that codes for a protein and thus determines a trait.
DOMINANT AND RECESSIVE GENES
Gene that prevents the other gene from “showing” – dominant
Gene that does NOT “show” even though it is present – recessive
SYMBOL
Dominant gene – upper case letter – T
Recessive gene – lower case letter – t
DOMINANT VS. RECESSIVE
- DOMINANT - Masks the other trait; the trait that shows if present
- Represented by a capital letter (A)
- RECESSIVE – An organism with a recessive allele for a particular trait will only exhibit that
trait when the dominant allele is not present; Will only show if both alleles are present
- Represented by a lower-case letter (a)
DOMINANT & RECESSIVE PRACTICE
TT - Represent offspring with straight hair
Tt - Represent offspring with straight hair
tt - Represents offspring with curly hair
GENOTYPE VS. PHENOTYPE
- GENOTYPE – The genetic makeup of an organism; The gene (or allele) combination an
organism has.
- PHENOTYPE – The physical characteristics of an organism; The way an organism looks
HOMOZYGOUS VS. HETEROZYGOUS
- HOMOZYGOUS – Term used to refer to an organism that has two identical alleles for a
particular trait (TT or tt)
- HETEROZYGOUS - Term used to refer to an organism that has two different alleles for the
same trait (Tt)
PUNNETT SQUARE
- Developed by Reginald Punnett.
- A diagram used to show the probability or chances of a certain trait being passed from one
generation to another.
- Gametes are placed above and to the left of the square
- Offspring are placed in the square.
- Capital letters represent dominant alleles.
- Lower case letters represent recessive alleles.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

PUNNETT SQUARES
- PUNNETT SQUARE – Diagram showing the gene combinations that might result from a
genetic cross
- Used to calculate the probability of inheriting a particular trait
- PROBABILITY – The chance that a given event will occur
- The Punnett square is the standard way of working out what the possible offspring of two parents
will be.
- It is a helpful tool to show allelic combinations and predict offspring ratios.
DIHYBRID CROSS
INCOMPLETE DOMINANCE
- INCOMPLETE DOMINANCE - Situation in which one allele is not completely dominant
over another.
- Example – Red and white flowers are crossed and pink flowers are produced.
CODOMINANCE
- CODOMINANCE - Situation in which both alleles of a gene contribute to the phenotype of
the organism.
- EXAMPLE – A solid white cow is crossed with a solid brown cow and the resulting offspring
are spotted brown and white (called roan).
MULTIPLE ALLELES
- MULTIPLE ALLELES- Three or more alleles of the same gene.
- Even though three or more alleles exist for a particular trait, an individual can only have two alleles
– one from the mother and one from the father.
EXAMPLES OF MULTIPLE ALLELES
- BLOOD TYPE – 3 alleles exist (IA, IB, and i), which results in four different possible blood types
- HAIR COLOR – Too many alleles exist to count
- There are over 20 different shades of hair color.
MULTIPLE ALLELES
- There Are Always Multiple Alleles!
- Genetic inheritance is often presented with straightforward examples involving only two alleles
with clear-cut dominance. This makes inheritance patterns easy to see.
- But very few traits actually only have two alleles with clear-cut dominance. As we learn more
about genetics, we have found that there are often hundreds of alleles for any particular gene.
- We probably know this already - as we look around at other people, we see infinite variation.
POLYGENIC TRAIT
- POLYGENIC TRAIT - Trait controlled by two or more genes.
- Polygenic traits often show a wide range of phenotypes.
- EXAMPLE: The wide range of skin color in humans comes about partly because more than four
different genes probably control this trait.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

PEDIGREE ANALYSIS (LESSON 2)

- Diagrams showing the ancestral relationships and transmission of genetic traits over several
generations in a family.
- Is the technique of looking through a family tree (of humans or other organisms) for the
occurrence of a particular characteristic in one family over a number of generations.
PEDIGREE CHART
- One of the very important tools in studying human genetics and patterns of inheritance.
- Similar to family tree
- It uses symbols that shows the family relations and the phenotype of each member.
- will help identify relevant medical facts about certain traits or diseases as well as the family
history.
- used to note the genetic disorders that some family members have
- it can somehow predict if the offspring would have a good chance of inheriting the genetic
disorder if one of the parents has that trait.
PEDIGREE ANALYSIS
- Can be used to determine the likely mode of inheritance:
- Autosomal dominant
- Autosomal recessive
- X-linked dominant
- X-linked recessive
RELEVANT VOCABULARY
1. PROBAND - The individual in the pedigree that led to the construction of the pedigree.
2. LAW OF SEGREGATION (1ST MENDELIAN LAW) - For every trait governed by a pair of
alleles, these alleles segregate or separate during gamete formation in meiosis.
3. LAW OF INDEPENDENT ASSORTMENT (2ND MENDELIAN LAW) – A pair of alleles
for one trait will segregate or separate independently of another pair of alleles for another
trait during meiosis.
4. AUTOSOMAL TRAIT - A trait whose alleles that control it are found in the autosomes (body
chromosomes/ non-sex chromosomes)
5. PHENOCOPY - A trait that is expressed due to specific environmental conditions (ex. having
hair that is dyed of a different color) and is not due to the genotype.
6. IDENTICAL TWINS - Also known as monozygotic twins, which are derived from a single
fertilization event. After the first cleavage or cell division of the zygote, the cells separate and
become independent blastocysts implanted in the mother's uterus.
7. FRATERNAL TWINS - Twins that are derived from separate fertilization events, (two eggs
fertilized by two sperms) within the fallopian tube, resulting in two separate zygotes; also known
as dizygotic twins.
8. GAMETOGENESIS- process of producing Gametes during the process of meiosis.
(Spermatogenesis & Oogenesis)
BIOLOGY 2ND SEMESTER (MIDTERMS)
 BIOLOGY 2ND SEMESTER (MIDTERMS)

AUTOSOMAL DOMINANT PATTERN

Examples include:
- Huntington disease
- Achondroplasia (a form of dwarfism)
- Familial form of Alzheimer disease
- Defective enamel of the teeth
- Neurofibromatosis (the ‘Elephant man’
disease)
DISEASES/DISORDER
- Huntington disease
- Defective enamel of the teeth
“ACHONDROPLASIA (A FORM OF DWARFISM)”
- is a medical or genetic condition that causes someone to be shorter than an average-sized person.
- characterized by having body parts that are disproportionate to each other.
Target System/Organ System
- Bone Development
Main Cause of Dwarfism
- ACHONDROPLASIA
- Without cartilage formation
- Mutation of FGFR3 Gene
Effects Of the Disease To An Individual
- DISPROPORTIONATE DWARFISM
- Disproportionately large head, with a prominent forehead and a flattened bridge of the nose
- Short arms and legs, with particularly short upper arms and upper legs
- An average-size trunk
“FAMILIAL FORM OF ALZHEIMER DISEASE”
- The most common type of dementia (loss of memory)
- Involves parts of the brain that control though, memory, and language.
Main Cause of Alzheimer's
- Abnormal build-up of proteins in and around brain cells
Target System/Organ System
- Alzheimer's disease typically destroys neurons and their connections in parts of the brain
involved in memory, including the entorhinal cortex and hippocampus.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Effects Of the Disease of An Individual

- As Alzheimer's worsens, people experience greater memory loss and other cognitive
difficulties. “NEUROFIBROMATOSIS (THE ‘ELEPHANT MAN’ DISEASE)”
- Lymphatic filariasis, commonly known as elephantiasis, is a neglected tropical disease. It is an
autosomal dominant disease.
Impact Of Immune System
- The lymph system drains tissues of the extracellular fluid that “leaks” out of capillaries and
eventually returns it to circulation. It targets the legs, arms and external genitalia
Main Cause
- Lymphatic filariasis is caused by infection with parasites classified as nematodes (roundworms)
of the family Filariodidea. There are 3 types of these thread-like filarial worms:
- WUCHERERIA BANCROFTI, which is responsible for 90% of the cases
- BRUGIA MALAYI, which causes most of the remainder of the cases
- BRUGIA TIMORI, which also causes the disease.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

AUTOSOMAL RECESSIVE PATTERN

An idealized pattern of inheritance of an autosomal recessive trait includes the following features:
- both males and females can be affected
- two unaffected parents can have an affected child
- all the children of two persons with the condition must also show the condition
- the trait may disappear from a branch of the pedigree, but reappear in later generations
- over a large number of pedigrees, there are approximately equal numbers of affected females and
males.

EXAMPLES INCLUDE:
- Albinism
- Cystic fibrosis
- Thalassemia
- Phenylketonuria
CYSTIC FIBROSIS
- Inherited in an autosomal recessive pattern
- both copies of the gene in each cell has a mutation
- Both parents of an individual must each carry a copy of the mutated gene
Target System / Organ System
- CF is an inherited disorder that causes severe damage to the lungs, digestive system, and other
organs in the body
- Affects cells that produce mucus, sweat, and digestive juices; secretions become sticky and
thick
- Secretion plugs tubes, ducts, and passageways, especially in the lungs and the pancreas
Effects
SHORT-TERM EFFECTS: LONG-TERM EFFECTS:
- Shortness of breath - Chronic lung damage
- Coughing - Respiratory failure
- Frequent, long infections - Permanent harm to the pancreas
- Difficulty breathing - Diabetes
 BIOLOGY 2ND SEMESTER (MIDTERMS)

ALBINISM
- Albinism (OCA) can be passed down by the autosomal recessive pattern, which means 2
copies of the genetics from both parents must be inherited before the child gets the
condition.
- Which only means that there is only 1 in 4 chance the child inherits the condition while 1 in 2
chance that the child will become a carrier that can pass on the genes.
Target System / Organ System
- Albinism target the melanin pigmentation of the human body.
- Melanins are the substances that produce darker colors of hair, eye color, and skin tone.
Effects
SHORT-TERM EFFECTS:
- Vision problems and skin sensitivity
LONG-TERM EFFECTS:
- Vision problem and skin cancer
THALASSEMIA
- A blood disorder that reduces hemoglobin production
Hemoglobin
Red protein in blood cells which carries oxygen Made out of Heme, Alpha globins, and Beta globins
2 types:
- Alpha Thalassemia
- Beta Thalassemia
Target Organs / Organ Systems
BONE DEFORMITIES
- Expanded bone marrow and brittle bones
ENLARGED SPLEEN
- Due to having to work harder than in a regular person'sbody
HEART PROBLEMS
- Due to the destruction of a large number of red blood cells
Effects
SHORT-TERM EFFECTS:
- Anemia. Jaundice, and Enlarged Spleen
LONG-TERM EFFECTS:
- Organ Damage, Bone Deformities, and Infections
 BIOLOGY 2ND SEMESTER (MIDTERMS)

X LINKED DOMINANT PATTERN

An idealized pattern of inheritance of an X-linked dominant trait includes the following features:
- a male with the trait passes it on to all his daughters and none of his sons
- a female with the trait may pass it on to both her daughters and her sons
- every affected person has at least one parent with the trait
- if the trait disappears from a branch of the pedigree, it does not reappear
- over a large number of pedigrees, there are more affected females than males

Examples include:
- Vitamin D resistant rickets
- Incontinentia pigmenti, a rare disorder that results in the death of affected males before birth
DANON DISEASE
Target System Organs:
- Cardiovascular System More Specifically the Heart, Skeletal, And Central Nervous Systems
Effects of Disease:
- Weakening of the heart muscle (CARDIOMYOPATHY)
- Weakening of the Skeletal Muscles (MYOPATHY)
- Intellectual Disability
- Visual Abnormalities
- Difficulty Breathing
- Gastrointestinal Problems
INCONTINENTIA PIGMENTI
Target System Organs
- Incontinentia Pigmenti mainly targets the integumentary system (SKIN, NAILS, TEETH) and
the Visual System (EYES).
Effects of Disease:
- Skin Abnormalities
- Hair Loss
- Abnormal & Missing Teeth
- Eye Problems
 BIOLOGY 2ND SEMESTER (MIDTERMS)

- Fingernails and Toenails Problems

RETT SYNDROME
Target Organ Systems:
- Muscular System
- Nervous System
Effects:
- Slowed growth such as problems with hand movements, no language skills, problems with
muscles and coordination
- Trouble with Breathing
- Seizures
- Behavior Changes
- Unusual Eye Motion
- Trouble Sleeping
 BIOLOGY 2ND SEMESTER (MIDTERMS)

X LINKED RECESSIVE PATTERN

An idealized pattern of inheritance of an X-linked recessive trait includes the following features:
- all the sons of a female with the trait are affected
- all the daughters of a male with the trait will be carriers of the trait and will not show the trait; the
trait can appear in their sons
- none of the sons of a male with the trait and an unaffected female will show the trait, unless the
mother is a carrier
- all children of two individuals with the trait will also show the trait
- in a large sample, more males than females show the trait.

Examples include:
- Ichthyosis, an inherited skin disorder
- One form of red–green color-blindness
- One form of severe combined immunodeficiency disease
- Hemophilia
- Fragile X syndrome
- Duchenne muscular dystrophy
ICTHYOSIS
- X-linked ichthyosis (XLI), known as steroid sulfatase (STS) deficiency and X-linked recessive
ichthyosis, is a genetic skin disorder recognized in 1965 by Drs. Wells and Kerr. Because of the
abnormal shedding, skin tends to be dry and accumulates polygonal scales skin.
Target System / Organ:
- Ichthyosis can affect only the skin, but some forms of the disease can affect internal organs as
well.
Effects of disease on the individual:
- Overheating, limited movement, impaired hearing or eyesight, skin infection that can be dry,
itchy and appears scaly, rough, and red. The symptoms can range from mild to severe.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

HEMOPHILIA
- Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly.
This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.
Target System / Organ:
- Muscle tissue or joints, and brain
Effects of Disease on the Individual:
Chronic joint disease and pain, long term problems, such as seizures and paralysis, and Death
DUCHENNE MUSCULAR DYSTROPHY (DMD)
- Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive
muscle degeneration and weakness due to the alterations of a protein called dystrophin that
helps keep muscle cells intact.
Target System / Organ:
- Duchenne muscular dystrophy (DMD) affects the skeletal muscle, heart muscle, and brain.
Effects of Disease on the Individual:
- Leading to muscle wasting that gets worse over time.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Y-LINKED INHERITANCE
- Traits on the Y chromosome are only found in males, never in females.
- The father’s traits are passed to all sons.
- Dominance is irrelevant: there is only 1 copy of each Y-linked gene (homozygous).

SWYER SYNDROME
- Swyer syndrome is a condition that affects sex development. Sex development usually follows
a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex
development is not typical for the affected individual's chromosomal pattern.
Cause of Swyer Syndrome
- Variants of SRY gene
- MAP3K1 gene
- DHH and NR5A1 genes
Target System/Organ System
- Sex Organs
Effects on Individuals
- Sex Developments
 BIOLOGY 2ND SEMESTER (MIDTERMS)

WEBBED TOES/HANDS
- The medical term for two or more fingers or toes that are fused together or “webbed” is
syndactyly (sin-dak-tuh-lee). If your child has it, it was present at birth.
Webbed fingers or toes:
- Are fairly common and often run in families
- Occur in about one out of every 2,500- 3,000 newborns
- Affect boys more often than girls
- Affect both hands about 50 percent of the time
- Can occur alone or as part of a genetic syndrome, such as Down syndrome
- Can sometimes be seen prior to birth by ultrasound
- Most commonly involve the middle and ring fingers
Target System/Organ System
- The majority of cases of webbed toes occur when the skin fails to separate during fetal
development. However, more severe cases of syndactyly may also involve other parts of the
body, including:
- Bones
- Blood Vessels
- Muscles
- Nerves
Effects on Individuals
- Minor cases may not interfere much with toe or foot movement and function. However, if the toes
are severely webbed or fused, the condition can be disabling.
- Footwear - uncomfortable
- Self-conscious
HYPERTRICHOSIS/ HYPERTRICHOSIS OF THE EAR
- Hypertrichosis is a rare and curious condition that causes excessive hair growth.
- Hypertrichosis is sometimes known as werewolf syndrome.
- Congenital hypertrichosis may run in the family. It seems to be caused by genes that stimulate
hair growth becoming abnormally active.
Target System/Organ System
- It targeted cells that cause hair growth.
- hypertrichosis commonly affects the ear, cheeks, upper lip, and chin.
Effects on Individuals
- The abnormal hair growth may cover face or the rim of the ear in small patches.
- leads to itchiness and repeated scratching of a patch of skin
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Y-LINKED INHERITANCE
- Traits on the Y chromosome are only found in males, never in females.
- The father’s traits are passed to all sons.
- Dominance is irrelevant: there is only 1 copy of each Y-linked gene (homozygous).

MITOCHONDRIAL GENES
- Mitochondria are only inherited from the mother.
- If a female has a mitochondrial trait, all of her offspring inherit it.
- If a male has a mitochondrial trait, none of his offspring inherit it.
- Note that only 1 allele is present in each individual, so dominance is not an issue.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

OUTSIDER RULES
- In any pedigree there are people whose parents are unknown. These people are called “outsiders”,
and we need to make some assumptions about their genotypes.
- Sometimes the assumptions are proved wrong when the outsiders have children. Also, a given
problem might specify the genotype of an outsider.
- Outsider rule for dominant pedigrees: affected outsiders are assumed to be heterozygotes.
- Outsider rule for recessive pedigrees: unaffected (normal) outsiders are assumed to be
homozygotes.
- Both of these rules are derived from the observation that mutant alleles are rare.
THE STEPS WHEN INTERPRETING A PEDIGREE CHART
Determine if the pedigree chart shows an autosomal or X-linked disease.
- If most of the males in the pedigree are affected, then the disorder is X-linked.
- If it is 50/50 ratio between men and women the disorder is autosomal

Determine whether the disorder is dominant or recessive.

- If the disorder is dominant, one of the parents must have the disorder.
- If the disorder is recessive, neither parent has to have the disorder because they can be
heterozygous.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

SEX LINKAGE AND RECOMBINATION (LESSON 3)

RELATED VOCABULARY
1. SEX-LINKED TRAIT- The gene (pair) that determines a character is located on the sex
chromosomes.
2. X-LINKED TRAIT- A sex-linked trait is where the gene or allele for the trait is found on the
X chromosome
3. COLOR BLINDNESS- An X-linked recessive trait where an affected individual could not
distinguish red from green color (red green color blindness)
4. HEMOPHILIA- An X-linked recessive trait where an affected individual suffers from
delayed blood clotting during injuries because of the absence of certain blood clotting
factors
5. Y-LINKED TRAIT- A sex-linked trait where the gene or allele for the trait is found on the Y
chromosome
6. HYPERTRICHOSIS PINNAE AURIS- A Y-linked trait where affected males have hair
growing from their external ears.
7. Other sex-related traits.
A. SEX-INFLUENCED TRAIT- Any trait in a diploid organism whose expression is affected by
an individual’s biological sex; a trait that occurs at a higher frequency in one sex over the other
B. SEX-LIMITED TRAIT- Any trait in a diploid organism whose expression is limited to just one
biological sex
SEX LINKAGE
- the condition in which a particular gene is located on a sex chromosome, especially on the X-
chromosome, so that the character controlled by the gene is associated with either of the sexes.
In humans, males and females are represented by different sex chromosomes
- Females have two X chromosomes in the nucleus of their cells.
- Males have one X chromosome and one Y chromosome in the nucleus of their cells.
Sex traits can be categorized into three types of inheritance:
1. Sex-Linked
2. Sex – influenced
3. Sex-limited
1. SEX-LINKED TRAITS
- Sex linked inheritance is traits carried in either the X or the Y chromosome.
- They are said to be linked because more males (XY) develop these traits than females (XX).
- This is because the females have a second X gene to counteract the recessive trait. Thus, the trait
is more likely to be visible in the male.
Color blindness in humans is an example of sex-linked trait

- the alleles responsible for color blindness is found on the X chromosome only
- the dominant allele is the normal allele; the recessive allele causes color blindness
- Females need two copies of the recessive allele, one from each of the two X chromosomes, for the trait to
be manifested. If they only have one copy of the recessive allele, they have normal color vision. However,
they are carriers for the trait in that they may pass it on to their offspring.
- Males only need one recessive allele in their sole x chromosome for the trait to be expressed.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

Y-LINKED
- A condition is considered y-linked if the mutated gene that causes the disorder is located on the Y
chromosome, one of the two sex chromosomes in each of a male's cells.
- Because only males have a Y chromosome, in y-linked inheritance, a mutation can only be passed
from father to son.
Hypertrichosis commonly known as “Werewolf Syndrome” is an extremely rare condition that results
in the excess growth of body hair.
2. SEX-INFLUENCED TRAITS
- are autosomal traits that are influenced by sex.
- If a male has one recessive allele, he will show that trait, but it will take two recessives for the
female to show that same trait
- Hormonal or physiological differences between the sexes cause differences of expression of
certain genes.
3. SEX-LIMITED TRAITS
- are traits that are visible only within one sex.
- Hormonal or physiological differences between sexes may limit the expression of some genes to
one biological sex only.
RECOMBINATION
- When gametes (egg and sperm) form, chromosomes go through a process called recombination.
- During recombination, homologous chromosomes pair up and exchange stretches of DNA.
Recombination makes new allele combinations, which can then be passed to offspring.
GENENTIC RECOMBINATION
- Is the process of recombining genes to produce offspring with traits that are different from those
of their parents.
- This involves the exchange of genetic material either between multiple chromosomes or between
different regions of the same chromosome
When sex chromosomes don’t have a homologue (XY male mammals and ZW female birds, for
instance), the sex chromosomes do not recombine. Instead, the sex chromosomes pass unchanged from
parent to offspring.
But when sex chromosomes do have a homologue (as in XX female mammals and ZZ male birds), the
sex chromosomes recombine to make new allele combinations.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

MOLECULAR STRUCTURE OF DNA, RNA, AND PROTEINS (LESSON 4)

Nucleotides – building blocks of any nucleic acid
DNA: repository of genetic information
RNA: transcripts; link between the gene and the gene product (protein)
Protein: functional products; executors of cellular functions
Why do you think DNA is often referred as blueprint of life?
DNA contains the instructions for making proteins within the cell
James Watson and Francis Crick
- Developed the structure of DNA as a “double helical structure” since the structure contains two
strands winding around each other
- Contains sugar phosphates, the DNA base pairs that are linked by hydrogen bonds
Why do we study DNA?
1. medical benefits such as cures for diseases
2. better food crops
Chromosomes and DNA
- Chromosomes are made up of genes
- Genes are made up of DNA
DEOXYRIBONUCLEIC ACID (DNA)
- Is the genetic material passed from parents to offspring
- Double-stranded molecule held together by weak hydrogen bonds between base pairs of
nucleotides

CENTRAL DOGMA OF MOLECULAR BIOLOGY: DNA ➔ RNA ➔ Protein

1. Genetic information is stored in DNA.

2. Segments of DNA that encode proteins or other functional products are called genes.
3. Gene sequences are transcribed into messenger RNA intermediates (mRNA).
4. mRNA intermediates are translated into proteins that perform most life functions.
DNA Structure
- A gene is a section of DNA that codes for a protein.
- Each unique gene has a unique sequence of bases.
- This unique sequence of bases will code for the production of a unique protein.
- It is these proteins and combination of proteins that give us a unique phenotype.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

DNA consists of two molecules that are arranged into a

ladder-like structure called a Double Helix.
A molecule of DNA is made up of millions of tiny subunits
called Nucleotides
Each nucleotide consists of:
1. Phosphate group
2. Pentose sugar
3. Nitrogenous base
One Strand of DNA
- The backbone of the molecule is alternating phosphate and deoxyribose
- The teeth are nitrogenous bases
N-bases are either purines or pyrimidines

Nucleotides

Each base will only bond with one other specific base.
Adenine (A)
Thymine (T)
Cytosine (C)
Guanine (G)
NOTE:
- Because of this complementary base pairing, the order of the bases in one strand determines the
order of the bases in the other strand.
RIBONUCLEIC ACID or RNA
- Is a single-stranded molecule that is composed of nucleotides
- The sugar backbone of RNA is ribose.
 BIOLOGY 2ND SEMESTER (MIDTERMS)

NOTE:
DNA serves as “manual” and RNA serves as “photocopy”
- When the cells need to get information that codes for specific protein, RNA will copy that
information, which is stored in DNA
- This helps the cell get the instructions needed to produce the protein, while keeping the DNA
information intact
RNA
- Thymine is replaced by Uracil
- A-U
- Single stranded but some bases can be complementary; hence, some portions may be double
stranded.
Different Types of RNA
In protein synthesis, three unique types of RNA are used:
Messenger RNA (mRNA)
- RNA copy of the DNA strand to be “read” during translation
Transfer RNA (tRNA)
- Carries individual amino acids to site of replication
Ribosomal RNA (rRNA)
- Attached to ribosome complex, site of protein synthesis
DNA REPLICATION, TRANSCRIPTION AND TRANSLATION
DNA REPLICATION
- A process where DNA is copied exactly to produce another DNA
- semiconservative -following replication, each double helix contains one old strand and one new
strand
- New DNA molecules are produced in the 5’ to 3’ direction
ENZYMES
- The enzyme that opens the parent molecule by breaking the hydrogen bonds is helicase
- It “unzips” the molecule
- The other principle enzyme is DNA polymerase
- It moves along the unwound strand, adding the appropriate bases
- Another version of the polymerase “checks” to ensure that no mistakes were made
 BIOLOGY 2ND SEMESTER (MIDTERMS)

UNIVERSAL FEATURES OF DNA REPLICATION

- Semiconservative
- Specific Base pairing
- Requirements for primers
- 5`-3` direction of Replication
- Semidiscontinous
- Origin of Replication
- Replisomes
Stages of Replication
I. Initiation
- Recognition of position/s on the DNA molecule where replication will begin
II. Elongation
- Synthesis of the complementary daughter strand at the replication fork
III. Termination
- Completion of the process
 BIOLOGY 2ND SEMESTER (MIDTERMS)

SUMMARY DNA REPLICATION OR DNA SYNTHESIS

Enzymes in replication
1. Helicase
2. SSB (single strand binding proteins)
3. Primase or RNA polymerase
4. DNA polymerase
5. DNA ligase
TRANSCRIPTION
- When a secretary transcribes a speech, the language remains the same. However, the form of the
message changes from spoken to written.
- The instruction to make protein starts in DNA with contains gene (a continuous string of
nucleotide containing a region (begins with a promoter & ends in a terminator) that codes for
an RNA molecule.
- The genes also contain regulatory sequences that can be found near the promoter.
- The encoded RNA is used to synthesize a protein in a process called GENE EXPRESSION.
(Divided into two process TRANSCRIPTION and TRANSLATION)
- DNA is used as a template to make mRNA
- first stage of gene expression whereby a DNA strand serves as template for formation of
messenger RNA or mRNA
- DNA is protected inside the nucleus
- mRNA carries the message of DNA into the cytoplasm to the ribosomes
 BIOLOGY 2ND SEMESTER (MIDTERMS)

TRANSLATION
- An interpreter is needed to translate English into Chinese.
How is the information in the mature mRNA strand translated into a protein?
- Genetic translation converts nucleic acid language into amino acid language
- During gene expression, the process whereby ribosomes use the sequence of codons in mRNA to
produce a polypeptide with a particular sequence of amino acids
CODON
- The flow of information from gene to protein is based on codons.
- A codon is a three- base word those codes for one amino acid
- The genetic code includes 64 CODONS.
- Most codons code for specific amino acids
- 4 special codons (1 codon codes for start and 3 codes for stop)