Genetics: the study of biological inheritance

Genotype: the genetic constitution of a cell or organism, it can refer to single or multiple genes

Phenotype: the observable characteristics of a cell or organisms including the result of test and
measurements

Gene: a hereditary unit, functional DNA unit, a factor that controls a phenotype and segregates in
pedigrees

Alleles: Alternative forms of the same gene

Mutation: a hereditable gene of chromosomic or genomic alteration

Mutant: 1. A biological entity with a change due to mutation

2. a “changed” gene

Segregation: the distribution of allelic sequences between daughter cells at meiosis

Recombinant: a gamete that contains a combination of allelles that is different from the
combination inherited by parents

Darwinian school

Approah : Holistic

Methods: Biometry and Quantitative Genetics (GWAS?)

Mendelian School

Approach : Reductionist

Methods: Mendelian Genetics, Molecular Genetics

Forward genetics : orang liat suatu mutan, kemudian diliat apa yang berubah dari struktur genetic
nya

Reverse genetics : orang merekayasa suatu gen tertentu, kemudian melihat apa yang terjadi setelah
suatu gen diubah

FORWARD GENETICS

Mutants in Arabidopsis :

1. Recessive mutations
2. Mutations in a single gene
3. Mutation affecting two adjacent whorls
4. Homeotic mutations
 A. Normal, gen A B dan C diekspresikan, jadinya normal
B. Pistillata, gen B tidak diekspresikan, jadinya mutan
C. Agamous, gen C tidak diekspresikan, jadinya mutan

Link between forward genetics ad reverse genetics

a. Homeotic genes, coding for transcription factors, control flower development

b. Most of homeotic genes belong to the MADS gene family
c. MADS is a functional domain of about 60 AA for binding to DNA. Highly conserved
d. Starting from this information it is possible to isolate MADS genes from other species and
test whether they are involved in flower development as well.

MUTATIONs

1. Chromosome structure (changes in chromosome structure)

2. Genome mutations (changes in chromosome number)
3. Single-gene mutations (Relatively small changes in DNA syructure that occur within a
particular gene)

Type of mutation

Recessive

Dominant

Semidominant

Apakah di eukariotik, pembacaan RNA dapat dilakukan pada rantai template dan non-template?

Concept of Polymorphosms

1. Several alleles for a single gene

2. Polymorphism derives from mutations which spread in the population
3. By definition a polymorphic allele > 1% in the population

FIND!

1. Overlapping gene
2. Frameshifted gene
3. Nested gene