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PEDIGREE ANALYSIS
Pedigree
- Making use of diagrams showing the ancestral relationships and transmission of genetic traits
over several generations in a family
- Uses:
1. Describe the mode of inheritance of a trait
2. Calculate the probability of occurrence of an affected offspring in the given cross
Mode of Inheritance
- The manner in which a genetic trait or disorder is passed from one generation to the next
• Autosomal dominant
• Autosomal recessive
• X-linked dominant
• X-linked recessive
• Multifactorial
• Mitochondrial inheritance
Proband
- The individual in the pedigree that led to the construction of the pedigree
- Are usually represented by an arrow on the lower left corner of the individual’s symbol
Autosomal Trait
- A trait whose alleles that control it are found in the autosomes (body chromosomes/ non-sex
chromosomes) autosomal: somatic cells
Sex-linked trait
- A trait in which a gene is located on a sex chromosome. In humans, the term generally refers to
traits that are influenced by genes on the X chromosome
Identical Twins
Fraternal Twins
- Or dizygotic twins, are derived from separate fertilization events (two eggs fertilized by two
sperms) within the fallopian tube, resulting in two separate zygotes
- If the trait is dominant, one of the parents must have the trait. Dominant traits will not skip a
generation. If the trait is recessive, neither parent is required to have the trait since they can be
heterozygous
- In x-linked recessive traits, males are much more commonly affected than females
- In autosomal traits, both males and females are equally likely to be affected (usually in equal
proportions)
- The terms dominant and recessive refer to the way that a trait is expressed, not by how often it
shows up in a family
- In fact, although it is uncommon, a trait may be recessive but may still show up in all generations
of a pedigree
Exercises
Mechanisms of Evolution
Population
- Interbreeding group of individuals of one species in a given geographic area at the same time
- A population evolves because it contains the collection of genes called the gene pool
- As changes in the gene pool occur, a population evolves (disturbed gene pool= evolution)
- Interbreeding: involved in sexual intercourse, can produce offsprings
Natural selection
- Fittest creatures are more likely to survive and pass their genes to their offspring, producing a
population that is better adapted to the environment
- Genes of less-fit individuals are less likely to be passed on to the next generation
- Important selective force in natural selection is the environment
- Ex. giraffes: long-neck and short-neck coexist in the wild.
Soil got richer= natural fertilizer= trees grew
Long-neck adapted, medium and short-neck didn’t adapt hence wasn’t able to survive and
disappeared from the wild because the gene wasn’t passed
- Darwin’s ideas about natural selection plus our modern understanding of genetics
- According to the Synthetic Theory of Evolution, natural selection disturbs genetic equilibrium
- As a result, allele frequencies will change
- In this way natural selection determines which adaptations are beneficial to species
- It’s possible that we came from the same ancestor (SINGLE CELLED ORGANISM) as apes (and
other animals like whales and birds) that’s why our DNA is similar
- Combination of environment and gene
Environmental fitness
Stabilizing selection
Disruptive selection
- The environment favors extreme types in a population at the expense of intermediate forms,
thereby splitting the population into two or more subpopulations
- Opposite of stabilizing selection
- Two extremes flourish in the wild, only intermediate disappears
- Speciation: the rise of new species from the original population
- Example: crabs
- light tan (sand), dark brown (mud), in between (wala mataguan, vulnerable, nawawala)
Mutation
- Random change in an organism’s genetic makeup, which influences the population’s gene pool
- A change in the nature of the DNA in one or more chromosomes
- Give rise to new alleles
- May be harmful or benign
- Not dominant trait in the wild, happens when there’s a change in the genetic information of
organisms
- Ex. albinism did not exist before, only existed because of mutation; namix na sa gene pool natin
- Colorblindness and hemophilia are also a result of mutation
Gene flow
- Occurs during the migration of individuals from one group or location to another
- Migrating individuals interbreed with the new population, they contribute their genes to the
gene pool of the local population
- Ex. Filipinos: According to history we are according to Malay descent (pango, pandak, kulot)
- 3 colonizers: Spaniards, nagkaroon ng gene flow – nagkaroon ng fair skin, straight hair, pointed
nose; Americans introduced new genes, gene pool got lawak; Japanese……..
Genetic drift
Founder Effect
Bottleneck effect
- Fossil records
- Anatomical similarities (comparative anatomy)
- Embryological similarities (embryology)
- Molecular similarities (molecular biology)
Fossil records
- Any trace or remains of an organism that has been preserved by a natural process
- The fossil record is considered the strongest evidence of evolution
- Strongest because we have physical evidence
TYPES OF FOSSILS
1. Imprint
- Thin, soft object (leaf, feather) is buried, and sediments later harden
2. Mold
- Buried organism disappears and leaves an empty space
- Only general shape of the organism
3. Cast
- Mold filled by minerals (replica of organism)
- When molds are filled by crystallized minerals and hardens over time
4. Petrification
- Minerals replace hard parts (bones, teeth, etc.) of organism
- Crystallized minerals
5. Amber
- Entire organism fossilized in tree sap
6. Frozen
- Entire organism frozen in ice
- Just like amber, the entire organism is preserved this time by a very low temperature
7. Trace
- Footprints, trails, etc.
- Very similar to mold fossils but instead of entire shape,
only footprint or trails of the organisms
COMPARATIVE ANATOMY
- Parts with similar basic structure (derived from same structures in embryo- same common
descent), but may vary in function
- Homologous structures organisms with similar basic structures may share common ancestor
Analogous Structures
- Structures that have the same function (may look somewhat alike), but have different structures
and do not have a common descent
- Evolved from different ancestors
Vestigial Structures
- Reduced body parts (in comparison to the same complex structure in other organisms) that
have little to no function; remnant of an ancestor
Embryology
Molecular Structure
Cytochrome c