Biologi Sel FK-UMI 2012

Dr. Budu,Ph.D, Sp.M (K)

Type of Inheritance
Autosomal Dominant
Autosomal Recessive
X-linked (recessive & dominant)
Sporadic
Mitochondrial inheritance

science and
laboratory
application

BUDU, M.D, PH.D

Most living
organisms are
made up of cells
he of
t
is nit
l
l
ce ic u
s life
a
b

All cells are considered to

have three things in
common.
Cell membrane that
selects which materials are
allowed to pass into and out of
the cell.

Cytoplasm, which is the

part of the cell that is enclosed
by the cell membrane.

Nucleus, in which DNA as

the genetic material take
location.

Nucleus, in which
DNA as the
genetic material
take location.
Our genetic
information is stored
in 23 pairs of
chromosomes that
vary widely in size
and shape.
Chromosomes are
made of DNA, and
genes are special units
of chromosomal DNA.
that act as the

blueprint of the

Our genetic information is stored

in 23 pairs of chromosomes that
vary widely in size and shape.
Chromosomes are made of DNA,
and genes are special units of
chromosomal DNA.

Where do genes come

in?
Genes are sections or segments of
DNA that are carried on the
chromosomes and determine specific
human characteristics, such as height
or hair color .
You inherit your parents' genes.
Heredity helps to make you the
person you are today: short or tall,
with black hair or blond, with green
eyes or blue.
Can your genes determine whether
you'll be a straight-A student or a
great athlete? Heredity plays an
important role, but your environment
(including things like the foods you
eat and the people you interact with)
also influences your abilities and
interests.

Genes and Heredity

Heredity is the passing of genes from one
generation to the next. You inherit your
parents' genes. Heredity helps to make you
the person you are today: short or tall, with
black hair or blond, with green eyes or blue.
Can your genes determine whether you'll be
a straight-A student or a great athlete?
Heredity plays an important role, but your
environment (including things like the foods
you eat and the people you interact with)
also influences your abilities and interests.

How Do Genes Work ?

DNA contains four chemicals (adenine, thymine, cytosine, and
guanine called A, T, C, and G for short) that are strung in patterns
on extremely thin, coiled strands in the cell. How thin? Cells are tiny
invisible to the naked eye and each cell in your body contains
about 6 feet of DNA thread, for a total of about 3 billion miles (if all
your DNA threads were stretched out straight) of DNA inside you!
The DNA patterns are the codes for manufacturing proteins,
chemicals that enable the body to work and grow.

agctcaggcc ttcgcagcat tcttgggtgg gagcagccac gggtcagcca

caagggccac agccatgaat ggcacagaag gccctaactt ctacgtgccc
ttctccaatg cgacgggtgt ggtacgcagc cccttcgagt acccacagta
ctacctggct gagccatggc agttctccat gctggccgcc tacatgtttc
tgctgatcgt gctgggcttc cccatcaact ct ctacgtcacc gtccagcaca
agaagctgcg cacgcctctc aactacatcc tgctcaacct agccgtggct
gacctcttca tggtcctagg tggcttcacc agcaccctct acacctctct
gcatggatac ttcgtcttcg ggcccacagg atgcaatttg gagggcttct
ttgccaccct gggcggtatg agccgggtgt gggtggggtg tgcaggagcc
cgggagcatg gaggggtctg ggagagtccc gggcttggcg gtggtggctg
agaggccttc tcccttctcc tgtcctgtca atgttatcca aagccctc

Protein
Genes hold the
instructions for
making protein
products (like the
enzymes to digest
food or the pigment
that gives your eyes
their color). As your
cells duplicate, they
pass this genetic
information to the

Gene encode
instructions
on how to
make
proteins

Protein

Protein

Protein

Protein

Within each chromosome there are thousands of genes lined

up sequentially one after another, and seperated by
intergenic regions. Each gene is a unit of DNA that encodes
for a specific protein, with a unique function

Several terms in genetics must be

defined :
Proband (propositus = index case)
Sibs (siblings)
P1
F1
Allele
Genotype
Phenotype
Pedigree/family tree

Mutation
Polymorphisms
Wild type
Homozygote
Heterozygotes
Compound
Recessive
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
to offspring. Affected individual's have one normal copy of the gene and one mutant copy of
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.

Autosomal
Dominant

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

Dd
affected

Dd
affected

dd
Normal

dd
normal

Affected parent

Progeny of Dd x Dd mating
Affected parent
D

DD
Homozygous
affected

Dd
Heterozygous
affected

Dd
Heterozygous
affected

dd
Homozygous
wild type

Affected parent

Homozygous dominant genotype

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

Affected
individuals are
indicated by solid
black symbols
and unaffected
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 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 Xlinked 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