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Wahyuning Ramelan
Program Studi Pendidikan Dokter UNTAN
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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
1.
2.
3.
4.
G+E=P
E = environment
Genetic material/substances
A special chemical structure/substance, DNA in
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 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