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INTRODUCTION
• Most human characteristics and common diseases
are polygenic, whereas many of the disordered
phenotypes thought of as “genetic” are monogenic
but still influenced by other loci in a person’s
genome.
• Phenotypes due to alterations at a single gene are
frequently referred to as Mendelian, after Gregor
Mendel, the monk/biologist who studied the
reproducibility and recurrence of variation in garden
peas.
INTRODUCTION
• We now recognize that the Mendelian factors are
genes, and the alternative copies of the gene are
alleles.
• For example, if B is the common (normal) allele and
b is the mutant allele at a locus, then the phenotype
is dominant whether the genotype is BB or Bb.
Conversely, the phenotype is recessive when the
genotype is bb.
INTRODUCTION
• Mendel showed that some traits were dominant
relative to other traits; he called the latter traits
recessive.
• Dominant traits require only one copy of a “factor”
to be expressed, regardless of what the other copy is,
whereas recessive traits require two copies before
expression occurs.
INTRODUCTION
• Most human characteristics and common diseases
are polygenic, whereas many of the disordered
phenotypes thought of as “genetic” are monogenic
but still influenced by other loci in a person’s
genome.
• Phenotypes due to alterations at a single gene are
frequently referred to as Mendelian, after Gregor
Mendel, the monk/biologist who studied the
reproducibility and recurrence of variation in garden
peas.
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INTRODUCTION
• Mendel showed that some traits were dominant
relative to other traits; he called the latter traits
recessive.
• Dominant traits require only one copy of a “factor”
to be expressed, regardless of what the other copy is,
whereas recessive traits require two copies before
expression occurs.
INTRODUCTION
• We now recognize that the Mendelian factors are
genes, and the alternative copies of the gene are
alleles.
• For example, if B is the common (normal) allele and
b is the mutant allele at a locus, then the phenotype
is dominant whether the genotype is BB or Bb.
Conversely, the phenotype is recessive when the
genotype is bb.

MENDEL’S PRINCIPLE OF
MENDEL’S LAW
SEGREGATION
1. THE PRINCIPLE OF SEGREGATION
2. THE PRINCIPLE OF INDEPENDENT
ASSORTMENT
3. PRINCIPLE OF DOMINANCE

MENDEL’S PRINCIPLE OF MENDEL’S PRINCIPLE OF

SEGREGATION SEGREGATION
• We now know that this segregation of alleles
• Polidaktili
occurs during the process of sex cell
formation (i.e., meiosis). • Albino
• Mata Biru
• Rambut Ikal
• Celah bibir dan langit-langit
• Diabetes Mellitus (DM type I )
• Talasemia

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MENDEL’S PRINCIPLE OF MENDEL’S PRINCIPLE OF

INDEPENDENT ASSORTMENT INDEPENDENT ASSORTMENT
• Different pairs of alleles are passed to offspring
independently of each other.
• The result is that new combinations of genes
present in neither parent are possible.
• Example : A particular eye color does not increase
or decrease the likelihood of having 6 fingers on
each hand.
The genes for independently assorted traits are
located on different chromosomes.

MENDEL’S PRINCIPLE OF MENDEL’S PRINCIPLE OF

INDEPENDENT ASSORTMENT INDEPENDENT ASSORTMENT

MENDEL’S PRINCIPLE OF DOMINANCE MENDEL’S PRINCIPLE OF DOMINANCE

• With all of the seven pea plant traits that Mendel
examined, one form appeared dominant over
the other. It masked the presence of the other
allele.
• For example, when the genotype for pea color is
YG (heterozygous), the phenotype is yellow.
• However, the dominant yellow allele does not
alter the recessive green one in any way.
• Both alleles can be passed on to the next
generation unchanged.

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Exceptions to Mendelian rules
• Silent alleles : In a multiple allele system, it is
sometimes not obvious that a silent allele exists.
• Pleiotropy : Pleiotropy can occur whenever a
gene product is required in more than one tissue
or organ.
• Mitochondrial inheritance : It is inherited only
through the egg, sperm mitochondria never
contribute to the zygote population of
mitochondria.
Exceptions to Mendelian rules
Codominance :
• If two or more alleles can each be
distinguished in the phenotype in the
presence of the other they are said to be
codominant.
• An example is seen in the ABO blood group
where the A and B alleles are
codominant.
PEDIGREES CHART
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Exceptions to Mendelian rules
• Lethal alleles : Many so called dominant
mutations are in fact semidominant, the
phenotype of the homozygote is more extreme
than the phenotype of the heterozygote.
• Incomplete or semi- dominance : Incomplete
dominance may lead to a distortion of the
apparent ratios or to the creation of unexpected
classes of offspring. A human example is Familial
Hypercholesterolemia (FH). The gene responsible
codes for the liver receptor for cholesterol.
Exceptions to Mendelian rules
• Pleiotropic Genes
• Sickle-cell anemia, a blood disorder, is caused by a
pleiotropic gene.
• Normal hemoglobin (the pigment that carries oxygen
in the blood) is produced by the allele HbA.
• Sickle cell anemia occurs in individuals who have two
copies of the mutated allele, HbS. This mutation
produces abnormally shaped hemoglobin molecules
that interlock with one another  “A sickle shape”
• Patients often show signs of heart, kidney, lung, and
muscle damage  Multiple Gen
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