BIOMEDIK FK-UMI

20 NOP 2008
Dr. Budu,Ph.D, Sp.M-KVR

Type of Inheritance
Autosomal Dominant

Autosomal Recessive

X-linked (recessive & dominant)

Sporadic

Mitochondrial inheritance
Several terms in genetics must be
defined :
 Proband (propositus = index case)  Mutation
 Sibs (siblings)  Polymorphisms
 P1  Wild type
 F1  Homozygote
 Allele  Heterozygotes
 Genotype  Compound
 Phenotype  Recessive
 Pedigree/family tree  Dominant
Autosomal Dominant
Dominant conditions are expressed in individuals who have just one copy of the
mutant allele. The pedigree on the right illustrates the transmission of an autosomal
dominant trait. Affected males and females have an equal probability of passing on the trait
Autosomal
to offspring. Affected individual's have one normal copy of the gene and one mutant copy of
Dominant
the gene, thus each offspring has a 50% chance on inheriting the mutant allele. As shown in
this pedigree, approximately half of the children of affected parents inherit the condition and
half do not.
 Kriteria autosomal dominant :

1. Sifat ada pada setiap generasi.

2. Setiap pembawa sifat memiliki 50% menurunkan sifat kepada keturunannya.
3. Anggota keluarga sehat tidak menurunkan sifat kepada generasi berikutnya.
4. Kejadian transmisi sifat tidak tergantung jenis kelamin. Sehingga laki-laki dan
perempuan memiliki resiko sama menderita penyakit.
Progeny of Dd x dd mating

Normal parent

d d

D Dd Dd
affected affected
Affected parent

d dd dd
Normal normal
Progeny of Dd x Dd mating

Affected parent

D d

D DD Dd
Homozygous Heterozygous
Affected parent
affected affected

d Dd dd
Heterozygous Homozygous
affected wild type

Homozygous dominant genotype

Autosomal Recessive
Recessive conditions are clinically manifest only when an individual has two copies of Affected
the mutant allele. When just one copy of the mutant allele is present, an individual is a carrier individuals are
of the mutation, but does not develop the condition. Females and males are affected equally indicated by solid
by traits transmitted by autosomal recessive inheritance. When two carriers mate, each child black symbols
has a 25% chance of being homozygous wild-type (unaffected); a 25% chance of being and unaffected
homozygous mutant (affected); or a 50% chance of being heterozygous (unaffected carrier). carriers are
indicated by the
half black
symbols.
 Kriteria autosomal recessive :

1. Sifat hanya ada pada ssatu garis keturunan (sibs), tidak muncul pada
orang tua dan keturunan pertamanya.
2. Seperempat dari saudara probands membawa sifat.
Muncul ¼ pada setiap kelahiran (recurrence risk).
3. Orang tua pembawa sifat kemungkinan besar kawin keluarga.
4. Laki-laki dan poerempuan memiliki resiko yang sama.
X-linked Recessive
X-linked recessive traits are not clinically
manifest when there is a normal copy of the gene.
All X-linked recessive traits are fully evident in
males because they only have one copy of the X
chromosome, thus do not have a normal copy of
the gene to compensate for the mutant copy. For
that same reason, women are rarely affected by
X-linked recessive diseases, however they are
affected when they have two copies of the mutant
allele. Because the gene is on the X chromosome
there is no father to son transmission, but there is
father to daughter and mother to daughter and
son transmission. If a man is affected with an X-
linked recessive condition, all his daughter will
inherit one copy of the mutant allele from him.
X-linked Dominant
Because the gene is located on the X chromosome, there is no
transmission from father to son, but there can be transmission from father to
daughter (all daughters of an affected male will be affected since the father has
only one X chromosome to transmit). Children of an affected woman have a 50%
chance of inheriting the X chromosome with the mutant allele. X-linked dominant
disorders are clinically manifest when only one copy of the mutant allele is
present.
 Mitchondrial/maternal inheritance

Children inherit their mitochondrial DNA only from their mother, unlike nuclear DNA which comes from
the mother and father. Girls will always pass on a mtDNA mutation (genetic error or defect) and boys
will never pass on a mtDNA mutation. Thus, a child shares the same mtDNA sequence as does his/her
siblings and mother, but not his/her father. In addition, the mother's siblings and her mother (the child's
maternal aunts, uncles and grandmother) and more distant maternal relatives also share this same
mtDNA. In practice, siblings and the mother often are affected with variable manifestations of energy
deficiency, while the maternal aunts, uncles and/or grandmother are sometimes affected.
Thank you