M1: INTRODUCTION TO GENETICS TERMINOLOGIES IN GENETICS

Genetics
- the study of ​heredity ​and ​variation
of inherited characteristics
- coined by ​William Baetson (1905)
- Heredity​: the tendency to ​resemble
their parents
- Variation​: the tendency to be
different ​from their parents
(mutation and polymorphism)
- started with the work of ​Gregor
Johan Mendel​ (inheritance of ​pea
plant​), founder of ​“Principles of
Mendelian Inheritance”: ​Law of
Dominance​ and ​Law of
Independent Assortment]
Gene
- coined by ​Wilhelm Johannsen
(1909)
- hereditary determining factor
- consist of ​continuous segment of
DNA​, with bits of information that
can be passed down to offsprings
- in ​Eukaryotes​, genes occupies a
specific position in chromosome
called​ Locus/Loci

MODERN BRANCHES OF GENETICS

Cytogenetics
- physical basis - chromosomal effects
Molecular Genetics
- genomics and proteomics
Phylogenetics
- evolutionary similarities and
differences
Developmental Genetics
- gene control/ embryology (ex. Hox
genes)
Behavioral Genetics
- the influence of the environment to
genetics

TYPES OF REPRODUCTION
Sexual ​- occurs when sperm (spermatozoa)
fertilizes an egg (ovum) to produce offspring

Asexual ​- occurs when one organism

copies itself​ to produce offspring (ex:
bacteria’s reproduction, multiple fission,
budding)
Allele
- also called “​allelomorph​”
- alternate form of gene​ which
occupy identical loci on homologous
a chromosome
- control the contrasting character
of the same trait
- has two forms: ​dominant ​and
recessive
Dominant and Recessive Alleles
- Dominant allele​: always express
(mask or suppress recessive),
symbolizes ​capital letters
- Recessive alleles​: will express only
in the absence of dominant allele,
symbolizes ​small letters
- Dominance​: the ability of the allele
to express itself phenotypically both
in h​omozygous (TT)​ and
heterozygous (Tt)
- Recessiveness​: the ​inability o ​ f an
allele to manifest phenotype in
heterozygous (Tt) condition.
Note: ​Characteristics​ are different from
traits.​. The prior features ​physical
attributes​ (brown or blue) while the latter
(eye color) are ​different versions of a
characteristic​.
Genotype and Phenotype
- Genotype ​(genetic make-up):
combination of allele
- Phenotype ​(physical features),:
expression of genotype
Note​: Phenotype is also produced by the
interaction between​ genotypes and
environmental factors​.
Homozygous
- both members of an allele pair in the
homologous chromosome are
identical ​(dominant or recessive),
ex: TT or tt
Heterozygous
- members of an allele pair in the
homologous chromosome are ​NOT
identical​ (one dominant and one
recessive), ex: Tt
Remember​: TT - homozygous dominant
Tt - heterozygous dominant
tt - homozygous recessive
Hemizygous
- a condition when ​genes are
present only in one copy​:
- genes on X chromosomes in
male (1 X and 1 Y chromosome)
- genes on y chromosome ( only 1
Y chromosome in males)

Hybridization
- the process of ​crossing two
genetically different individual
- hybrid ​is the progeny of
hybridization

Dihybrid​: an organism which is

heterozygous with respect to two pairs of
allele (ex: Yellow Round seed x Green
Wrinkled seed

Terms:​
Gametes ​- sex cells
P ​- parental
F ​- filial

Monohybrid​: an organism which is

heterozygous with respect to one pair of
allele (ex: Tall x Dwarf)
Test cross
- the ​F1 progeny is crossed with its
double recessive
- used to ​determine whether the
individual is exhibiting dominant
character​ (homozygous or
heterozygous)
- detects the genotype of F1
F1 and F2
- F​: filial meaning “son”
- F1​: first generation progeny of
hybridization
- F2​: progeny hybrid (F1) is hybridized
with any of its parents
Genetic Diseases
- can be passed through genes from a
parent to the child
Examples:
Marfan Syndrome​ - CT disorder where
FBN1 gene on chromosome 15
Albinism ​- lack of melanin (Autosomal
Dominant transmission)
Sickle Cell ​- irregularity in the form of RBCs
causing disruption in oxygen transportation
(Autosomal Recessive transmission)
Hemophilia ​- lacking blood-clotting proteins
(X-linked R)
Huntington’s Chorea​ - death of brain
cells/nerves (Autosomal Dominant
transmission)
Mutation
- occurs when ​genes make a
mistake when mixing which
produces new or different traits​ in
its offspring
- ex: Down syndrome, ectrodactyly,
progeria and cancer