1 genetika mendel dan gen-gen pada kromosom (1).pptx

7/25/2019 1 Genetika Mendel dan gen-gen pada kromosom (1).pptx

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Genetika Mendeldan Gen-gen pada

Kromosom

Fakultas KedokteranUniversitas Muhammadiyah Purwokerto

2014


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Introduction to Genetics

GENETICS ranch o!iolo"y that deals withheredity and variation

o! or"anisms#

Chromosomescarry

the hereditaryin!ormation $"enes% &rran"ement o!

nucleotides in '(&

'(&

)(&

Proteins


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*hat is a "ene+ & "ene is a stretch o! '(& whose

se,uence determines the structureand !unction o! a s-eci.c !unctionalmolecule $usually a -rotein%

'(&

Protein

GAATTCTAATCTCCCTCTCAACCCTACAGTCACCCATTTG

GTATATTAAAGATGTGTTGT

CTACTGTCTAGTATCC

/om-uter -ro"ram

-eci.c !unction

function sf()

{document.f.q.

focus()}

*orkin" co-ym)(&


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Genes are located in the cell nucleus on

chromosomes

Karyoty-e


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'own syndrome karyoty-e $trisomy

21%


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Gre"or ohann Mendel &ustrian Monk orn in what is now /3ech

)e-ulic in 122 on o! -easant !armer studied

5heolo"y and was ordained

-riest 6rder t# &u"ustine# *ent to the university o! 7ienna where hestudied otany and learned the cienti.cMethod

*orked with -ure lines o! -eas !or ei"htyears

Prior to Mendel heredity was re"arded as a

8lendin"8rocess and the o9s rin were essentiall a


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Mendel:s -eas Mendel looked at seven traits or

characteristics o! -ea -lants;


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Mendel deduced the underlyin" -rinci-les o!"enetics !rom these -atterns

1#e"re"ation

2#'ominance


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ene cs erms you nee oknow;

Gene a unit o! heredity=a section o! '(& se,uenceencodin" a sin"le -rotein

Genome the entire set

o! "enes in an or"anism

Alleles two "enes that occu-y the

same -osition on homolo"ouschromosomes and that cover the sametrait $like >?avors: o! a trait%#

Locus a .@ed location on a strand o!

'(& where a "ene or one o! its alleles is


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Homo!gous havin" identical "enes$one !rom each -arent% !or a -articular

characteristic# Hetero!gous havin" two di9erent

"enes !or a -articular characteristic#

"ominant the allele o! a "ene thatmasks or su--resses the e@-ression o!

an alternate allele= the trait a--ears inthe hetero3y"ous condition#

#ecessi$e an allele that is masked

y a dominant allele= does not a--earin the hetero3 ous condition onl in


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Genot!pe the "enetic makeu- o! anor"anisms

%henot!pe the -hysical a--earanceo! an or"anism $Genoty-e Aenvironment%

Monoh!&rid cross; a "enetic crossinvolvin" a sin"le -air o! "enes $one

trait%= -arents di9er y a sin"le trait# %B Parental "eneration

'(B First .lial "eneration= o9s-rin"

!rom a "enetic cross#


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Punnett s,uare

& use!ul tool to do "enetic crosses For a monohyrid cross you need a s,uaredivided y !ourC#

Dooks like

a window-aneC

*e use the

Punnett s,uare

to -redict the

"enoty-es and -henoty-es o!

the o9s-rin"#


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Mendel*s la+ o, segregation

& normal $somatic% cell has two variants

$alleles% !or a Mendelian trait# & "amete $s-erm e"" -ollen ovule% contains

one allele randomly chosen !rom the twosomatic alleles#

E#"# i! you have one allele !or rown eyes $%and one !or lue eyes $% somatic cells have and each "amete will carry one o! or chosen randomly#

B b

B BB Bb

b Bb bbE""s

-erm


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5erminolo"yC

Haploid;containin" one

co-y o! eachchromosome$nB2


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5erminolo"yC

Genot!pe; the states o! the two alleles at one or morelocus associated with a trait

%henot!pe; the state o! the oservale trait

Genotype Phenotype

BB (homozygous) Brown eyesBb (heterozygous) Brown eyes

bb (homozygous) Blue eyes


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Mendel*s la+ o,independent assortment Knowled"e o! which allele has een inherited at

one locus "ives no in!ormation on the allele haseen inherited at the other locus

SHs Hy

S Sy s sy

)./ )./ )./ )./


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im-li.ed view o! eye colourinheritance; iallelic Mendelian trait

rown dominant;

lue recessive;

Human e!e colour

B b

B BB Bb

b Bb bbE""s

-erm


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uman eye colour

+

P$%B1H

1 genetika mendel dan gen-gen pada kromosom (1).pptx

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