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MULTIFACTOR or

POLYGENIC INHERITANCE
Wahyuning Ramelan
Faculty of Medicine , UI
Study Program of Medicine,
UNTAN

Inhabitant of the universe


Two kinds of inhabitant
Thing, not living, not reproductive
Living thing, creature, reproducible

Living thing, creature, different from


thing , has living criteria (metabolism,
organization in its body, adaptation +
responsive to stimulus, growth +
development, reproduction, mobi-lity,
body form and measurement), which is
genetically determined

Genetic factor of the organism


In general genetic factor / genetic
substance of all organism is similar, DNA
(deoxyribo-nucleic-acid), which is a
polynucleotide. DNA of each organism
(species) different in the number of the
nucleotide (base pair, bp)
DNA organize its self as functional unit
gene and its place in cell chromosome
Species also differ on the chromosome
and gene number

Genetic factor of the organism2


Genetic factor
Gene, chromosomal gene, and
mitochondrial gene
Chromosome

Genetic factor genotype, which


controll and or regulate phenotype
Phenotype is mostly physical
characteristics which can be seen or
examined

Multifactorial inheritance
Genotype in most situation, is a single
gene
In certain/some situation, genotype is
more than one gene polygene
polygenic inhe-ritance
In most situation, the environmental factor
which influenced the genotype to give
result the phenotype, is also many factor
multifactorial inheritance

Multifactorial inheritance2
Pathophysiology of
multifactorial/polygenic inheritance
G1
E1
G4
E4
G2
E2
G5
E5
P
E3
G3

Multifactorial inheritance3
Manifestation of multifactorial/polygenic
inheritance
Normal population distribution
Congenital disorder/malformation
Acquired disease/disorder occur in childhood
and in adultlife

Normal distribution
blood pressure, dermatoglyphics (ridge count),
head circumference, height, intelligence, skin
color

Congenital disorder due to


multifactorial inheritance

Cletf lip or palate, or both


Congenital dislocation of the hip
Congenital heart defects
Neural tube defects, eg. anencephaly
Pyloric stenosis
Various form of scoliosis
Various form congenital disorder of
foot (eg. pes equinovalgus, pes planus)

Aquired disease in childhood


and in adult due to
Asthma (brochial) Autism
multifactorial inheritance
Diabetes mellitus Epilepsy
Glaucoma
Hypertension
Inflamatory bowel disease, eg. Crohn
disease, Ulcerative colitis
Ischemic heart disease Ischemic stroke
Manic depression Multiple sclerosis
Parkinson disease Psoriasis
Rheumatoid arthritis
Schizophrenia

Aquired disease in childhood


and in adult due to
multifactorial inheritance2

Risk to get a multifactorial disorder :


1. < 10% when both parent are normal
2. 10 15% if one of the parent has
the disorder
3. 15 20% if both parent have
already the disorder, with possibility
to have more severe disorder

Genome likeness in family


The probability to have same (likeness of)
genome in the family is big enough
Twin, MZ 100%,
DZ 50%
Among sib 50%
Father children 50%
Mother children 50%
Grandfather/grandmother grandchildren
25%
Uncle/aunt niece 25%

Twin studies
By studying the appearance of similar
disease or disorder in the twin member
Concordant is the appearance of the
disease or disorder in both twin member.
It is believe that genetic factor plays
more role. The higher the concordant, the
more genetic factor play its role in
developing the disease/disorder.
Concordance usually is higher in MZ twin

Twin studies2
Discordant is the appearance of the
disease or disorder in only one of the
twin member. It is believe that
environmental factor plays role. The
higher the discordant, the more
environ-mental factor has its role
Usually higher discordant is found in
DZ twin

Some concordance of
multifactor
diso.
Disorder
Concordance (%)

MZ
DZ
Psoriasis
72
15
Nontraumatic epilepsy 70
6
Manic depressive disorder
67
Schizophrenia
53
15
Bronchial asthma 47
24
Type 1 Diabetes mellitus 40
4,8
Congenital hip dislocation
40
Cleft lip, w./wo. Cleft palate
38
Tuberculosis 37
15

5
8

Some concordance of
multifactor diso.
Disorder

Concordance (%)

MZ
DZ
Rheumatoid arthritis
34
15
Club foot
33
3
Osteoarthritis
32
16
Hypertension
25
7
Systemic lupus erythematosus22
Rheumatic fever 20
6
Multiple sclerosis 17.8
2
Cancer, same site 7
1