M1: INTRODUCTION TO GENETICS TERMINOLOGIES IN GENETICS
Genetics Gene
- the study of heredity and variation - coined by Wilhelm Johannsen
of inherited characteristics (1909)
- coined by William Baetson (1905) - hereditary determining factor
- Heredity: the tendency to resemble - consist of continuous segment of
their parents DNA, with bits of information that
- Variation: the tendency to be can be passed down to offsprings
different from their parents - in Eukaryotes, genes occupies a
(mutation and polymorphism) specific position in chromosome
- started with the work of Gregor called Locus/Loci
Johan Mendel (inheritance of pea
plant), founder of “Principles of
Mendelian Inheritance”: Law of
Dominance and Law of
Independent Assortment]
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 Note: Characteristics are different from
- also called “allelomorph” traits.. The prior features physical
- alternate form of gene which attributes (brown or blue) while the latter
occupy identical loci on homologous (eye color) are different versions of a
a chromosome characteristic.
- control the contrasting character
of the same trait Genotype and Phenotype
- has two forms: dominant and - Genotype (genetic make-up):
recessive combination of allele
- Phenotype (physical features),:
expression of genotype
Note: Phenotype is also produced by the
interaction between genotypes and
environmental factors.
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 homozygous (TT) and Homozygous
heterozygous (Tt) - both members of an allele pair in the
- Recessiveness: the inability o f an homologous chromosome are
allele to manifest phenotype in identical (dominant or recessive),
heterozygous (Tt) condition. 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 Genetic Diseases
- the F1 progeny is crossed with its - can be passed through genes from a
double recessive parent to the child
- used to determine whether the
individual is exhibiting dominant Examples:
character (homozygous or Marfan Syndrome - CT disorder where
heterozygous) FBN1 gene on chromosome 15
- detects the genotype of F1
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
F1 and F2 transmission)
- F: filial meaning “son”
- F1: first generation progeny of Mutation
hybridization - occurs when genes make a
- F2: progeny hybrid (F1) is hybridized mistake when mixing which
with any of its parents produces new or different traits in
its offspring
- ex: Down syndrome, ectrodactyly,
progeria and cancer
