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MULTIFACTORIAL DISORDER

Wahyuning Ramelan
Program Studi Pendidikan Dokter UNTAN
Fakultas Kedokteran UI

Disease, disorder
Anyones altered condition which has
effect in her/his normal condition and
performance beared by everyone, which
make him/her seeking help for eliminating
the infirmity

Genetic disease or disorder


Any disease or disorder caused by
changes in genetic material/substances of
her/his own ( mutation)
Could be inherited from the ancestor
through the parent
Could also be a new mutation in the parent
or in her/his own body/cell

Genetic disease or disorder2

1.
2.
3.
4.

Basic/general groups of genetic


disease/disorder
Gene (mono- / poly-) disease/disorder
Chromosome aberration
Mitochondrial disease
Multifactorial disorder

Genome, genotype, phenotype


Genome : all the genetic material/
substances in a being
Genotype : specific part/unit of genome
with specific effect seen
Phenotype : specific physical (bodily)
condition, which is a controlled/regulated
by specific genotype

G+E=P

E = environment

Genetic material/substances
A special chemical structure/substance, DNA in

most organism, RNA in some


In special place of anyone, cell chromosome
and mitochondria
Human chromosomes number is 46 consists of 23
pair, 22 pair autosomes, same in men and
women, 1 pair sex chromosome, XX in women
( 46,XX) and XY in men ( 46,XY)
Genetic information = genetic code in the genetic
material/substances
Genetic material/substances will be transmitted
inherited by next generation

Gene disease/disorder
Two type gene disease/disorder :
Single gene disease/disorder
Polygenes disease/disorder
multifactorial disease/disorder

G+E=P

in this case

G = 2 genes
E = 2 environmental situation
P = a phenotypes with many appearance/ variation

Multifactorial disorder
Genetically has 2 genes or more as the
causepolygene, / other genetic material
As genetic disorder can be inherited
from/through the parent
Can manifests as congenital disorder as
well as disorders in later life (as in teens or
in adult, even late adult)
Environment has enough influence result
in phenotypic variation

Multifactorial disorder2
g1
e3

e2
g2

g3

e1
Mf.Dis./App.
e4

g4
schematic pathogenesis of a multifactorial disorder

Multifactorial disorder3
Example of multifactorial disorder
Congenital anomalies (CA):
Various CA on skelets and appendages
Various congenital heart disease

Bronchial asthma
Diabetes Mellitus
Hypertension, Hypotension
Mental retardation

Multifactorial variants in appearance


Multifactorial of normal appearances :
Blood cells concentration
Blood
Blood/serum concentration
Blood sugar/glucose concentration
Body height (BH),
Color of the hair, ,
Dermatoglyphy
Intelligence
Kinds/types of hair

Multifactorial phenotypes
Phenoptype (appearance) of the
multifactorial :
In numerical grade, such as IQ, BG, BH,
BP, BW, MR
In norm grade, such as : mild, medium,
severe

Multifactorial inheritance
As genetic condition (disorder or normal),
the genetic will be transmitted to their
children the children inherit the genetic
condition
Inheritance of multifactorial condition differ
from monogenic (single gene) disorder
Statistically the inheritance is less then
25% (the inheritance of recessive)

Multifactorial inheritance2
The inheritance is the highest when both
parents have the condition
Become less if only one of the parents has
the condition
The least is when both parents dont have
the condition

Twin studies
Environmental factor can be studied in
twin, especially monozygotic twin (MZ)
Existence of a genetic disorder in MZ
twins both member concordance
genetic factor has more role the higher
the percentage the concordance, the
bigger role of the genetic factor

Twin studies2
Existence in only one member of then twin
discordance environmental has more
role in the pathogenesis of the disorder
the higher the percentage of discordance,
the bigger role of the environmental factor
Concordance-discordance also appear in
dizygotic (DZ) twin

Concordance inTwin
Disorder
Cleft lip, +/- cleft palate
Diabetes mellitus (type 1)
Epilepsy (nontraumatic)
Multiple sclerosis
Osteoarthritis
Psoriasis
Rheumatoid arthritis
Schizophrenia
Systemic lupus erythematosus (SLE)

Concordance (%)
MZ
DZ
30
5
40
4,8
70
6
17,8
2
32
16
72
15
12,3
3,5
53
15
22
0