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