2ND QUARTER
segregate (separate from each other) during gamete
MENDELIAN GENETICS
Genetics – the branch of biology concerned with study of
inherited variation. More specifically, the study of the origin,
transmission, expression, and evolution of genetic
information.
Heredity – the natural process by which physical and mental
qualities are passed from a parent to a child.
Gene - a discrete unit of inheritance which is believed to be
carrying the hereditary traits
Gregor Johann Mendel - “Father of Genetics”
Developed the laws of inheritance
Cultivated and tested some 28,000 pea plants.
Selected pea plants for study
1. Easy to grow, take little space, easily observable traits
2. Can be self - pollinated or cross-pollinated
3. Applied math with biology - probability and statistics
7 Characteristics of Pea Plants
Dominant allele Recessive allele
1. Purple flowers White flowers
2. Axial flowers Terminal flowers
3. Yellow seeds Green seeds
4. Round seeds Wrinkled seeds
5. Smooth pods Constricted pods
6. Green pods Yellow pods
7. Tall plants Short plants
First set of experiments - crossed purebred tall plants with
purebred short plants. (TT x tt)
Phenotypic Ratio – 4:4; all tall
Genotypic Ratio – 4Tt
Purebred - organism that always produces the same trait in
offspring also called true breeding.
P generation – purebred characteristics; parental generation;
homozygous
F1 generation (First Filial-son) - Offspring of the P generation
Alleles - alternative forms of genes
Trait – any detectable phenotypic variation of inherited
character; specific characteristic, such as seed color or height
Homozygous (homozygote) - an individual with identical
alleles for a gene or genes of interest. Ex. TT; tt
Homozygous Genotype - gene combination involving 2
dominant or 2 recessive genes (e.g. RR or rr); purebreed
Heterozygous (heterozygote) – an individual with different
alleles at one or more loci. Ex. Tt
Heterozygous Genotype - gene combination of one dominant
& one recessive allele (e.g. Rr); hybrid
Genotype – genetic makeup (e.g. TT, Tt, tt)
Phenotype - physical characteristics (e.g. tall, short)
Dominant - stronger of two genes expressed in the hybrid;
represented by an uppercase letter (T); trait appears in the
offspring of a cross between two pure individuals showing
contrasting forms of a trait.
Recessive - gene that shows up less often in a cross;
represented by a lowercase letter (t); gene whose phenotype
is not express if the dominant allele is also present.
Law of Dominance - States that some alleles are dominant,
and others are recessive.
Law of Segregation - The two alleles for a heritable character
formation and end up in different gametes.
Second set of experiments - F1 hybrid plants to produce F2 by
self-pollination. Tt x Tt
Phenotypic Ratio – 3:1 or 3 tall and 1 short
Genotypic Ratio – 1TT:2Tt:1tt
F2 generation – second filial; offspring of F1
Punnett Square - tool used to represent the possible gene
combinations from a genetic cross.
Probability - likelihood that event will occur.
Monohybrid cross – single trait; Ex. Seed color
One-Factor Cross
Phenotypic Ratio – 4:4
Genotypic Ratio – 4 or 1:1
Law of Independent Assortment - Each pair of alleles
segregates independently during gamete formation and do
not influence each other’s inheritance.
Dihybrid Cross - two different traits; Ex. seed color (yellow vs.
green) and seed shape (round vs. wrinkled) in the same cross
Two-Factor Cross
Phenotypic ratio - 9:3:3:1
Genotypic Ratio – 1:2:2:1:4:1:2:2:1
PEDIGREE ANALYSIS
Pedigree – bloodline; register recording a line of ancestors;
traces the family back to the centuries.
Pedigree – making use of diagrams showing the ancestral
relationships and transmission of genetic traits over several
generation in a family.
In humans, pedigree analysis is used to determine individual
genotypes and to predict the mode of transmission of single
gene traits.
Autosome – body chromosomes; actual chromosomes present
normally inside the nucleus
Sex chromosome - the X and Y (sex) chromosomes
Six (6) Mode of Inheritance Patterns
1. Autosomal dominant - Affected individuals always have at
least one affected parents
Examples: achondroplasia, Huntington’s disease, widow’s
peak, dimples, free lobes, tongue-rolling, brachydactyly,
hypercholesterolemia
2. Autosomal recessive - Affected individuals have unaffected
parents; Skipping of generation; sporadic
Examples: cystic fibrosis, phenylketonuria, galactosemia,
albinism, sickle-cell anemia, Tay-Sachs disease
3. X-linked dominant - Affected father – all daughters are
affected
No skipping of generation
Examples: hypophosphatemia, Aicardi syndrome, fragile X
syndrome
4. X-linked recessive - Affected mother – all sons are affected;
Criss cross inheritance – grandfather through carrier daughter
to grandson
Examples: red and green colorblindness, hemophilia,
Duchenne muscular dystrophy, Hunter syndrome
5. Y-linked - Affected father – only sons affected
Example: hypertrichosis pinnae
6. Maternal inheritance (mitochondrial inheritance) - Affected
mother – all offspring affected; Affected father – none
offspring affected.
The transmission of genes that are in mitochondria (i.e. not
contained in the nucleus of the cell). Mitochondrial DNA
(mtDNA)
Examples: MELAS (Mitochondrial Encephalomyopathy Lactic
Acidosis and Strokelike) is maternally inherited due to a defect
in the DNA within mitochondria.
MELAS – Mitochondrial Myopathy (muscle
weakness), Encephalopathy (brain and central nervous
system disease), Lactic Acidosis (buildup of a cell waste
product), and Stroke-like Episodes (partial paralysis, partial
vision loss, or other neurological abnormalities)
1. Dominance Relations - The various ways in which pair of
alleles can affect the phenotype.
- Alleles can show different degrees of dominance and
recessiveness in relation to each other.
▪ Incomplete Dominance - the heterozygote exhibits a
phenotype that is intermediate between the
corresponding homozygotes.
Example:
• Flower color in the four o’clock plant
• Two alleles
CR = wild-type allele for red flower color
CW = allele for white flower color
• A red snapdragon (four o’clock plant) is crossed
with a white snapdragon and the resulting offspring
will all be pink
• Results in a blending of the two alleles
In this case, 50% of the CR protein is not enough to produce the
red phenotype
1:2:1 phenotypic ratio NOT the 3:1 ratio observed in simple
Mendelian inheritance
▪ Co-dominance - the heterozygote expresses both
alleles simultaneously.
Example:
• Blood typing
• An individual carrying A and B alleles will have an AB
blood type.
• Alleles IA and IB are codominant - They are both
expressed in a heterozygous individual
• In some cases, both alleles are dominant and
expressed at the same time; co-exist.

EXTENSION OF MENDELIAN GENETICS (NON-MENDELIAN

GENETICS)
Protein - provide structure and support for cells.
Wild-type alleles - prevalent alleles in a population; most
frequent; dominant.
These encode proteins that
- function normally
- made in the right amounts
Mutant alleles - rare in natural population; alleles that have
been altered by mutation; recessive.
These tend to be 2. Multiple Effects of Single Genes or Pleiotropy - The ability
- cause a reduction in the amount or function of the of a single gene to affect multiple phenotypic characters.
encoded protein Examples:
- prevents the allele from producing a fully functional ❑ Sickle-cell disease - autosomal recessive condition
protein in homozygous individuals.
(Example in relation with Mendel’s experiment) - Direct effect of the sickle-cell allele is to make
Wild-type (dominant) allele Mutant (recessive) allele RBC’s produce abnormal hemoglobin molecules.
1. Purple flowers White flowers - As hemoglobin crystallizes the normally disk
2. Axial flowers Terminal flowers shaped RBC’s deform to a sickle shape that is
3. Yellow seeds Green seeds destroyed easily causes anemia and weakening
4. Round seeds Wrinkled seeds of the body, blood flow reduced, damaging
5. Smooth pods Constricted pods kidney, brain and spleen.
6. Green pods Yellow pods ❑ Marfan Syndrome - autosomal dominant mutation
7. Tall plants Short plants in the gene encoding the connective tissue protein
fibrillin.
 - Marfan syndrome includes lens dislocation,
increased risk of aortic aneurysm, and
lengthened long bones in limbs.
3. Interaction Between Gene Pairs - Two or more genes are
involved in determining a particular phenotype.
Example:
❑ Epistasis
- from the Greek for “stopping”
- where the expression of one gene pair masks or
modifies the effect of another gene pair.
- Labrador Retrievers
- Recessive epistasis – one of the recessive allele
of one gene masks the effects of either allele of
the second gene.
- Ratio - 9:4:3
- Siamese cats and Himalayan rabbits, which
exhibit dark fur in certain regions where their
body temperature is slightly cooler, particularly
the nose, ears, and paws.
- The TYR gene provides instructions for making
an enzyme called tyrosinase. This enzyme is
located in melanocytes, which are specialized
cells that produce a pigment called melanin.
Melanin is the substance that gives skin, hair,
and eyes their color.
❑ Nutritional Mutations - Mutations that prevent
synthesis of nutrient molecules are quite common,
such as when an enzyme essential to a biosynthetic
pathway becomes inactive.
- hydrangeas (Hydrangea macrophylla), the
flower color indicates the pH of the soil. In
strongly acid soil (pH below 6), flowers turn
blue. In alkaline soil (pH above 7), flowers turn
pink or even red.

6. Four (4) Factors Influence Gene Expression

1. Degrees of Dominance
2. Products of pairs of genes may interact
3. One gene may affect two or more traits
4. Environment

4. Less Predictable Variations in Traits

➢ Penetrance - the percentage of individuals that show
at least some degree of expression of a mutant
genotype.
➢ Expressivity - reflects the range of expression of the
mutant genotype degree to which the disease is
expressed
(severity)
Example:
❑ Camptodactyly
- clinically manifested by soft-tissue flexion
contractures of the fingers at one or several
joints.
- condition where a finger — or fingers — is fixed
in a bent position at the middle joint, and
cannot fully straighten.
- an autosomal dominant trait or occur as a
feature in many syndromes.
5. Examples of Environmental Effects on Phenotype
❑ Temperature-sensitive mutations - Chemical
activity depends on the kinetic energy of the
reacting substances, which in turn depends on the
surrounding temperature.