Genetic and Inheretance

lantip

Cytology is the study of the structure and

function of cells.
The human body contains two classes of cells: sex
cells and somatic cells.
Nucleated cells have Genetic code carried in.
DNA is major component at the nucleus.

 DNA replication
- DNA double helix separate through helicase
enzyme.
- Each DNA synthesize complemetary
DNA
3
forming two doughter DNA duplexes.

Mitosis and Meiosis

Mitosis :
- profase
- metafase
- anafase
- telofase
- interfase

Meiosis :
Meiosis I
- Profase I
- leptotene
- zygotene
- pachytene
- diplotene
- diakenesis
- Metafase I
- Anafase I
- Telofase I
Meiosis II

Cell type
gametogoni
um
primary
gametocyte
secondary
gametocyte

ploidy/
chromatids Process
chromosom
es
2N before
gametocytoge
diploid/46
replication, nesis
4N after it
(mitosis)
2N before
gametidogene
diploid/46
replication, sis
4N after it
(meiosis 1)
gametidogen
haploid/23
2N
esis (meiosis
2)

gametid

haploid/23

1N

gamete

haploid/23

1N

Meiosis I
(reduction
division)

Meiosis II
(equational
division)

Diploid

Diploid
Haploid

Haploid
Haploid

Differences in gametogenesis in male and female

Commences
Duration
Number of Mitosis
in
Gamete formation
Gamete production
permeiosis
Gamete production

Male

Female

Puberty
60-65 days

Early embryonic life

10-50 years

30-500

20-30

4 spermatids 1 ovum + 3 polar

100-200
body
million
1 ovum

Non disjunction

How can you get this individu ?

45 X0
47 XXY
47 XXX
47 XYY
48 XXYY
48 XXXX

47 XX, +21
47 XY,+21
47 XX, +18
45 XX, 14q21q

Genetic term
- DNA
- Chromosome
- Chromatic
- Centromere
- Codon
- Anticodon
- Etc

 All life depend on Central Dogma terms.

transcriptions

DNA

RNA
translation

Protein

biomolekuler

DNA :
- merupakan blue print dari kehidupan organisme.
- tersimpan informasi genetik tentang bagaimana sel
bekerja
RNA
- transport material informasi tersebut.
- penyedia template untuk produksi protein
Protein
- membentuk seluruh komponen tubuh, enzim, hormon,
etc, sinyal untuk regulasi aktivitas gen.

biomolekuler

biomolekuler

A C G T A T C G C G T A
U G C A U A G C G C A U

Template DNA adalah komplementer

dengan sekuens mRNA

GENOTYPE AND PHENOTYPE

Genotype : the genetic constitution
Phenotype : anatomical and physiological
characteristics constitution
Individual genotype is derived from the genotypes
of the parents.

GENES AND CHROMOSOMES

- every somatic cell contains 23 pairs of
chromosomes.
- homologous chromosomes ?
- autosomal chromosomes.
- sex chromosomes

Locus, what is this ?

Alleles, What is this ?
Homozygous and Heterozygous ?
Relationship between the alleles for those trait :
- Dominant
- Recessive
- Codominant

Penetrance is the percentage of individuals with

a particular genotype that show the "expected"
phenotype.
Expressivity : the extent to which a particular
allele is expressed when it is present.
Stimuli that result in abnormal development are
called teratogens.

Mode of genetic disease

MONOGENIC

Mendelian inheritance
a. Autosomal dominan

Mode of genetic disease

b. Autosomal recessive

 X chromosome inheretance

Mode of genetic disease

a.
b.
c.
d.

Non Mendelian
Mitocondral disease
Genetic imprinting
Anticipation
Mosaicism

Mode of genetic disease

Poligenic

Kelainan melibatkan lebih dari satu perubahan

gen
Genetic susceptibility
Environment berpengaruh
Multifactorial

Sources of Individual Variation

- Gamete from each parents
- Why dont we exactly have the same traits as our
parents ? ---- > recombination during meiosis -> crossing-over --- > translocation
VARIATION OF INDIVIDUAL

Sex chromosome
Y Chromosome
Contains smallest amount of gene (231)
------- > total genome 30.000 50.000 gene

X contains
chromosome
10 % of total genome
alteration can be found through pedigree
In activation phenomenon

Normal Sexual Differentiation

Sertoli Cells
SF-1

AMH

Testis

Wolffian
Duct

Leydig Cells
Genital
Ridge

Mullerian Duct
Regression

SF-1

Testosterone

Bipotential
Gonad

Follicular Cells
SF-1

Ovary

Genital
Tubercle
Urogenital
Sinus

DHT

Male
Internal
Genitalia

Penis
Prostate

Mullerian
Duct

Follicles
SF-1

Theca Cells

Female
Genitalia

THE HUMAN GENOME PROJECT

The project began in October 1990 and was
expected to take 15 years. Progress has been
more rapid than expected, and it is now expected
to be completed by the end of 2003

Sequencing

Sequencing

The Fact : (2000)

- Nine chromosomeschromosomes 3, 5, 11, 12,
16, 19, 21, 22, and the Y chromosom
- More than 38,000 genes have been tentatively
identified, and over 11,000 have been mapped.
- The genes responsible for more than 60
inherited disorders have been identified

SELESAI