MENDELISM

dr. Retno Sutomo, Sp.A(K), Ph.D

rsutomo@yahoo.com
The Father of Genetics

Garden pea plant

Gregor Johann Mendel

(18221884)
 Plant characteristics
in Mendels experiment
 Plant characteristics
in Mendels experiment
 Mendels experiment
Research material well suited to the study
Pure line
Carefully-designed experiments
Collected large amounts of data
Mathematical analysis to confirm his
explanatory hypothesis
Predictions of hypothesis were tested in a new
round of experimentation
 Mendels 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
Mendels 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
Mendels 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
Clarify the terminology
Clarify the terminology
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.
 Mendels rules today
Little attention on Mendels findings in 1866
The importance of Mendels 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
Mendels 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

Dominant and recessive phenotype level

Phenotypes are manifestations of the different actions of alleles
dominant allele and recessive allele
Dominant allele encodes a functional protein, recessive allele
encodes the lack of the protein or its nonfunctional form
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 Mendels law of segregation and law of
independent assortment
Mendels law and cell division
Some exceptions to Mendels 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
THE END