MENDELISM

dr. Retno Sutomo, Ph.D, Sp.A

The Father of Genetics

Garden pea plant

Gregor Johann Mendel

(1822–1884)
Plant characteristics
in Mendel’s experiment
Plant characteristics
in Mendel’s experiment
 Mendel’s experiment
 Research material well suited to the study
 Pure line
 Carefully-designed experiments
 Collected large amounts of data
 Used mathematical analysis to confirm his
explanatory hypothesis
 The predictions of the hypothesis were
then tested in a new round of
experimentation.
Mendel’s experiment

 Mendel developed pure lines

 A population that breeds true for a particular trait
 All offspring produced by selfing or crossing within
the population are identical for this character
 Any non-pure (segregating) generation would and
did confuse the results of genetic experiments
Mendel’s experiment

 Law of segregation

 Law of independent assortment

Law of segregation
Single character
Tall Dwarf

x self

Tall

Tall Dwarf
Assigning genotypes to the cross
Mendel’s data
The law of segregation

1. There are alternative forms for heredity unit

2. For each characteristic or trait, organisms
inherit two alternative forms of the unit, one
from each parent
3. When gametes (sex cells) are produced,
allele pairs separate or segregate leaving
them with a single allele for each trait
4. When the two alleles of a pair are different,
one is dominant and the other is recessive
Terminology

Allele
Allelic pair
Homozygote
Heterozygote
Genotype
Phenotype
Law of independent assortment
Multiple characters
Law of independent assortment

 During gamete formation the segregation of

the alleles of one allelic pair is independent of
the segregation of the alleles of another
allelic pair
 In other words.....
 The inheritance pattern of one trait will not affect
the inheritance pattern of another.
Mendel’s rules today

 Little attention on Mendel’s findings in 1866

 The importance of Mendel’s idea was just recognized in
1900
 3 scientists, working independently, found the same principles
 Discovery of chromosomes and their behavior during
meiosis (2n n) and fertilization (n + n  2n)
established the structural basis for Mendel's rules
 Mendel’s rules form the foundation of current genetics
Molecular basis of
Mendelian genetics
 The molecular nature of allele
 At DNA level, alleles are generally identical in most of
the sequences, differ only at one or a few nucleotides
of the thousands nucleotides make up the gene
 Alleles are truly different versions of the same basic
gene
 Gene is the generic term, allele is specific term

 Pea-color gene has two alleles  coding for yellow

and green
 Molecular basis of
Mendelian genetics
 Dominance
 Dominant and recessive  phenotype level
 Phenotypes are manifestations of the different actions of
alleles  dominant allele and recessive allele
 Several different molecular factors can make an allele
either dominant or recessive
 Dominant allele encodes a functional protein, recessive
allele encodes the lack of the protein or a nonfunctional
form of it
 In heterozygote, the protein produced by the functional
allele is enough for the normal needs of the cell  the
functional allele acts as a dominant allele
Molecular basis of
Mendelian genetics

 The understanding of meiosis mechanism

confirm the Mendel’s law of segregation and law
of independent assortment
Some exceptions to Mendel’s law

 Intermediate expression
 Co-dominance
 Many gene loci are not inherited
independently  linkage (because they are
relatively close together on the same
chromosome)  haplotype
 Polygenic traits