Genetic and Inheretance.pptx

8/19/2019 Genetic and Inheretance.pptx

1/48

Genetic and Inheretancelantip


2/48

Cytology is the study of the structure andfunction of cells.

The human body contains two classes of cells: sexcells and somatic cells.

Nucleated cells have Genetic code carried in.

DNA is major component at the nucleus.


3/48


4/48


5/48


6/48


7/48


8/48

• DNA replication

DNA double helix separate throu!h helicaseen"yme.

#ach DNA synthesi"e complemetary DNAformin! two dou!hter DNA duplexes.

5’

5

3’

3’

5’

3’


9/48

Mitosis and Meiosis


10/48

$itosis :

profase

metafase

anafase

telofase

interfase

Meiosis :Meiosis I - Profase I

- leptotene

- zygotene- pachytene- diplotene- diakenesis

- Metafase I - Anafase I

- Telofase IMeiosis II


11/48

Cell type ploidy/

chromosom

es

chromatids Process

gametogonium

diploid!"

#$ %efore

replication&

!$ after it

gametocytogenesis 'mitosis(

primarygametocyte

diploid!"

#$ %efore

replication&

!$ after it

gametidogenesis 'meiosis )(

secondary

gametocyte haploid#3 #$

gametidogen

esis 'meiosis#(

gametid haploid#3 )$

gamete haploid#3 )$

http://en.wikipedia.org/wiki/Ploidyhttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromatidshttp://en.wikipedia.org/wiki/Gametogoniumhttp://en.wikipedia.org/wiki/Gametogoniumhttp://en.wikipedia.org/wiki/Gametocytogenesishttp://en.wikipedia.org/wiki/Gametocytogenesishttp://en.wikipedia.org/wiki/Gametidogenesishttp://en.wikipedia.org/wiki/Gametidogenesishttp://en.wikipedia.org/wiki/Meiosishttp://en.wikipedia.org/wiki/Gametidhttp://en.wikipedia.org/wiki/Gametidhttp://en.wikipedia.org/wiki/Meiosishttp://en.wikipedia.org/wiki/Gametidogenesishttp://en.wikipedia.org/wiki/Gametidogenesishttp://en.wikipedia.org/wiki/Gametocytogenesishttp://en.wikipedia.org/wiki/Gametocytogenesishttp://en.wikipedia.org/wiki/Gametogoniumhttp://en.wikipedia.org/wiki/Gametogoniumhttp://en.wikipedia.org/wiki/Chromatidshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Ploidy


12/48

Diploid

Haploid

Meiosis I

(reductiondivision)

Meiosis II

(equationaldivision)

Haploid

Diploid

Haploid


13/48

Differences in gametogenesis in male and female

Male Female

%ommencesDurationNumber of $itosisinGamete formation

Gamete productionpermeiosisGamete production

&uberty '(') days

*()((

+ spermatids,((-((million

#arly embryonic life,()( years

-(*(

, ovum * polar body , ovum


14/48

$on dis*unction


15/48

How can you get this individu ?

• +) /( +0 //1 -,

• +0 //2 +0 /21-,

• +0 /// +0 //1 ,3

• +0 /22 +) //1 ,+4-,4

• +3 //22

• +3 ////


16/48

Genetic term

DNA

%hromosome

%hromatic

%entromere

%odon Anticodon

#tc5


17/48

• All life depend on 6%entral Do!ma7 terms.

8NA

&rotein

translation

DNA

transcriptions


18/48

• DNA :

merupa9an 6blue print7 dari 9ehidupan or!anisme.

tersimpan informasi !eneti9 tentan! ba!aimana sel be9erja

• 8NA

transport material informasi tersebut.

penyedia template untu9 produ9si protein• &rotein

membentu9 seluruh 9omponen tubuh1 en"im1 hormon1etc1 sinyal untu9 re!ulasi a9tivitas !en.

biomolekuler


19/48

biomolekuler


20/48

A % G T A T % G % G T A

G % A A G % G % A

Template DNA adalah 9omplementerden!an se9uens m8NA

biomolekuler


21/48


22/48


23/48


24/48

G#N;T2 AND &


25/48

GENES AND CHROMOSOMES

every somatic cell contains -* pairs ofchromosomes.

homologous chromosomes ?

autosomal chromosomes.

se chromosomes


26/48


27/48


28/48


29/48

>ocus1 what is this ?

Alleles1 @hat is this ?


30/48

Penetrance is the percenta!e of individuals witha particular !enotype that show the expected

phenotype.

Epress!"!ty : the extent to which a particular

allele is expressed when it is present.

Btimuli that result in abnormal development arecalled teratogens.


31/48


32/48

• $endelian inheritance

a. Autosomal dominan

Mode of genetic disease

$;N;G#N=%


33/48

b. Autosomal recessive



34/48

• / chromosome inheretance


35/48

• Non $endelian

a. $itocondral disease

b. Genetic imprintin!

c. Anticipation

d. $osaicism



36/48

• Celainan melibat9an lebih dari satu perubahan!en

• Genetic susceptibility

• #nvironment berpen!aruh

• $ultifactorial


&oli!enic


37/48

Sources of Individual Variation

Gamete from each parents

@hy dont we exactly have the same traits as ourparents ? E recombination durin! meiosis E cross!ng#o"er E translocat!on

$AR%A&%ON OF %ND%$%D'A(


38/48


39/48

Sex chromosome 2 %hromosome

%ontains smallest amount of !ene F≈231) ------- > total genome 30.000 – 50.000 gene

•


40/48

X chromosome• contains ,( of total !enome• alteration can be found throu!h pedi!ree• =n activation phenomenon


41/48

Normal Sexual Differentiation

Genital8id!e

HipotentialGonad

BI,

BI,;vary

Iollicular %ells

Theca %ells

Iollicles

$ullerianDuct

IemaleGenitalia

>eydi! %ells

Bertoli %ells

BI,

BI,

Testosterone

A$<

Testis

$ullerian Duct

8e!ression

@olffianDuct

GenitalTuberclero!enitalBinus

$ale=nternalGenitalia

&enis&rostate

D


42/48

&HE H'MAN GENOME PRO)EC&

The project be!an in Octo*er +,,- and wasexpected to ta9e ,) years. &ro!ress has beenmore rapid than expected1 and it is now expectedto be completed by the en. o/ 0--1


43/48

Sequencing


44/48


45/48

Be4uencin!


46/48

The Iact : F-(((J

Nine chromosomesKchromosomes *1 )1 ,,1 ,-1

,'1 ,L1 -,1 --1 and the 2 chromosom $ore than *31((( !enes have been tentatively

identified1 and over ,,1((( have been mapped.

The !enes responsible for more than '(inherited disorders have been identified


47/48


48/48

SE(ESA%

Genetic and Inheretance.pptx

Documents

Transcript of Genetic and Inheretance.pptx