“cltscorlPnuie ws
orgautser due to permanent clu
x Tern Mutatiou -'
+ He observed 834 mudatfous fn a populate
Sy3ys plauts ch Oeuotera Jamas ckcfana (-
HIST seferstiffe Stucly of mutate u
Morgan (fn Ilo) when aa] ou fd} fly.
x S00 mudauls + Hysoplita have been
aU over He world.
x Term Sport” far mutalfou wars fim PA Das win.
x erm “Sattatlou" ( Singde step Jaige Vastartou) was
giseu by Bateson:
x 9n fost gs yea mos} studies velated jo meaten
have been made fa Neurospora ( Red Mould)
— €:coly
BackrPo phages -Charge in Shucture &,
Lwomosonv
(shuctusal ctremosomaD
abbevr allow’ )
v
change fn Amount 6} op
cluromosome ‘
ee
L A v
Leletfou Lup¥eatior Gnversion Freud Locathton
| Lebfe eney Adon —
eS
fasacerilate Pevieutsfe :
Fermin) Intersting gnversion
cletetion — detetion
SaversionChauge fn Amount of,
Deletion
A loss. strageg et of, clgomosome
Terminad Onlercalary ov
a . gnterstltfad.
2 on fe ae
D 9 Bo ONG
a
exp, Cat-du chat Synctome
aor)
+ Heletfou + geus from Short
aim of sth claomos oro
No chaugqe in Amouxt of claomosome-
1 $
co
| gnvers fon
x whe two breaks OCCuy
fn q ctaomosomo aud byeaked
Past ylate 180° aud rejoined
ph ee
5 ae
é a
3 a
Sa
exe’ Baw exe chatacter
fn Oyoso pista
Os Opals
y
Vorauslocelion
OY
dLteg? cal Crossing
Over.
Ov
False crossing Over
A NegtiSmate yaad: Recfprecal feansLocal ean
a
mutual exchange bf geues
betweeu {wo non-homologous
Clraomosom.
Cmu Ruverit's Lyme J
Cetsonte myeloge wou uteink) I
4 non -reeiprocal trausLecalion non- veePprocal
OL qeues perween (9 X 224] trauslocation be jurren
Clyomoso me € Plsladetpifa ¢lsoo)
¥ Type sl blood comernes oT
Cheuge Pn number
eis (Heleva
Aneuploidy .
d % Org avis
chiomosome Or
which fe vwohole no-
Che mutthpte of barfe
ctaiomosome no- catted
hoss or additfou of, ctsomosone
fn whol set fe an.
x' Con be Yepresented Mt Qut
x J@cause fn non- diff junction
X Oecers dusing anaphase of ob upon arama
Cen afutsion -meuon catled OS euploldy
L | L
Hypoptoid Hyper por
di d th ‘t
44, Loss 44, cL&omosome 54 addftion of clemson
from an. ( 3n-) Pa Qn. ( ant)
monosomy Nutlfromy oud Frfsomy — Tehrasomy Houble
B monosomy (Qnt]) (ant2) brtsomy
oo? (an-1-1) i eantiah
hoc
I AoC
Ne ay
oo ate
cSe Furnr’s Syndsome - ,
‘ ( YS clromosome) — Audofoma
(una xo) tomy
4+ 9n9 ( barr body negittiuc)
# Helerosoma) o¥
DNosomal Afsordey
a
Le ClSomesSOMea Lsorder
4
S
fatav's Sondaons Edward Sqedtome Down's Syn
(‘Vafsomy 13) (txtomy 18) CTHsomg a
fo
KtfeakeLees Specs Jee tow ‘a
( Wy) Catan speiow
OCURRE Me
x Occurs fy oF (4a + iy
;» pera :
Shas aaa
y onclfu fol 9
having two
Gels of cldomosomys
qnafordued hautu
singe basic set +f,
Claomarome »
% Represented ft an
¢ lio mesomes
Noles: 4} Ahowld be xP afploids= 3 baste
noted Rat haplotdy Cm a
fs AP Heyent from Jefraplotd = dee
menoploidy. (eulaploid = 5%
a Hey aplor'd = 6% ( wheal
fer example common O71 et) se
wheat plaur fs Mot (Cola fs ve
nexoptoid 6x=42 er ae but “wong
as y
Houce $ts monoploidy % =F
Yaplo id f= aL
pout hah de nb} Pomadte clvcme ore fs wagered
Catted
as qemat cluomosorn mo’ ot fOsoros: : A\usopolyP loidy . ‘ ANopblyplotdy
=) Numerfeal frerease
Of He dame geuone
Of, Same specres -
exe org aulsm wf th, ging Le qeuome = 4: Haptord,
r ” Awo simile peuome AA Guloliplerd
ne tee et GO) Baa
v
foly '
idy —2 JoubOn Gs
A\\lophoidy -: epee of, claomesomes ” Haougd
ha bof FS tao belweeu nN pecies, q
Exocmphe wheak, cotton, tobacco.
L AA X 68
J
J 4
A B
wae
AQ— Fy Hybrid — Serie
[colette ine foeafmed—
ANABB — Alotetaploid or Ampladi'p
ree si
6| Atlop olyp
‘ U* (St man made _attnayee
+ Produced ny kan
Radish (aap satis)
analeR
a
OR ee 48
qetank — Fr
[coteufetae
WBRtBB —an=36
R hanobrassica
x whR root Mike yadtsh 4 upper feu
OF ec cabbage -
x Grfttcabe - \S+ man made ¢x0p ov Cereal
¢ Produwd by Rimpar .
froducd by Crossing weak ( tottecum dur)
Qn=2B
Q ewopear vye (Secale cereak = 2m= rm
Jofoum dium an =99 Secale Cereale
UN= JyTebraptoidy
| J
(Cross betwee Gecmlatecan!
nee) Fetraploid wheal i a
1
Geuc mulation ( Gntragenfe mucdactiion)
Pera ON CT CEE (etcas arcana
f cleange fin nucleotide Sequence af qeue or segmout of,
ONAL:
1S recorded by Sei wrfghh (1941) Tn Ancon steep
(short legged sucep:)
Geuc Mutation On Re baste ot Iypeo} Couts
OE SIERO Uae
Hegaploidy
———
Somat&e mulation Gewninal mutation
X Occurs fr non veproducttee 4 Occurs fn repreductter
cetls cars. Re fn
* alon- fulerFable ota ee
* Raw material fer
evolution,
Cour mutatidn On Jue basis 4, Oireclon.
glia
J Mud Gackwasd
mutate asexe: Heaminateon
= Hupurinc ton
Bepyrinidation multe ;
Produces! evrtife Fa mutation
Wwwsopufla wh Hee bebe af
i x. vay.
Leaminadion -!
Heamination-; Removal of ~“MHa gwoup from some
No “bases
Adenine Weamfoatio, Hypoxeutein,
Cuanine Accuninal fautletr
Cytoctne _Seam{n cies sac,
ey ° o 2
BO) Wefirtiaitn |cxpyrintshelin Renalal aa
ov fyrfonid furs ducto breakage ef, Pycosidfe
bond. wiih create, AP stte ( Apurtafe ste)
° a
Geue mutation Onitiaykasls of cfd,v4 furfue fs replaced &
rine aud Pyrimidfus
fs veplawd ba Sogxfiatar
Y Heuce 4 tyres e} draus'tfows Tee
Hence & types
Ue Possible Ghe Porstbue.
erp: Sickle cen auacmfa fr an
example of, Point mutatcon
Frameslots mutation
ae! a 4
-
AdditConad Frames léf+ Welelfonas Famald fr
or
gnsbytoual fans litt Mm
Wleu sone bass
4
when fon extra bus au
ane deleted ,
Added .
Nypes of Mulaten onthe batts o} change fa Penida
oO ee ee ts mutation ya ony Uésual effet
Same Sense on
@ Neutral mutation » —* Mutat occurs 40 far codon bad
; pub code equivaleut cunino acta. i
‘ rllmuleom: pci Fudp curo fier , “codonBaP oct cad oy fratue fn aug ergaudsm .
by one ov more geus Jecated on ONA, P
Claomodsome.
¥ A no- ol, disorders yelated {eo catleration fn ONA ov g
ans fouud fn human betas.
2
e Inbom error > CluomosomeD
ee besorders Benet ate :
ge ASordes trausmfted to ih 4 Qisordert OCU sae
erring as per Mendelrare to abnormal ae
Pafuck pss | cliomosome:
PG a
Autosomal Os order Sey-clsomosomod)
Afscrded «
iecabones Coningat’ Qvtotonal Reni a
Ae lornin utosomal Rece yee ¥-Rireed
x Hunting tows chorea # Maysachs Diseau Aominaur Re cets iu
i ar a
q x Cystte thywosts +
¥ Co lotetblind
x Byachyclactyt 9 + Peuctoriots
f {4 + Phowslketouutia Berectiu neys
CuanedDiuctapomed Sorina Ofeorder
(1) Huidfgton’s chorea—~ 0)
* mutated goue cause ‘a SubWa i
woldclr Frierferes why normal mefabolism
# Resuts fin quadual damage to brain , (stats
(2) itzeimer's direay -: Lepositfou ob p- amyloid
fn Brain.
+ Cueto Prfous.
(% Brachydacty ly = $matl Prageys aud faim.
x
(w foly devel ly Our to drscovtCuucs Uarfation
vy moresrau S Fingers «
mr END, EE
94 on sfde of, MFHte ffager
y
utnas +
(S) BAractuodact ly or Mosfau's Afseass - '
x Spider Oke ffagers.
x Abrahm tet was , SF ae
x Due to abnormal precluctfon connss tees Cacae
a SSuk
(4) Jaste -b&ind ness $0 PTC (Phenyl qifocaybaniide) —
fia Cite Jost = Brie % Te fs aco
Aor dominag = 1
cca
34 on Sfee of dumb -
q
Racial -Playly lalanine petMAlHeer, Tyxos fre
¥S0 bigh Lever + plewylataufne Ta blood Tistue fiat.
% Ynereuseel Level of Pheuylalaufns fh blood Frterbeves
wIA* brafn development
4 Ge muscle and cartilage mou be defective
% qe fPatteuk cannot} wack property |
(2) Alkaptonurio -; (_Glack wine dfsorder)
x St quutical disorder (184 Mborn error)
4 A&ceovered by A: Garrod,
x Auto debfefencs of Homogent’s tc acfd oxidase eur.
CHAO)
pl dysoss __ Hebe ae Dew Sas CHOPA)
x |
er i
Momogeu?s ttc crefd
ee ecrcm Ovidaliion “at LOaipfeteney of tpottoase
M ‘
Tyrosine _Tygrosinak , 934 Hluydrory
ETE ( DHE
°
Melcwne
* Heuce a person sup fering from albinism cau
Syutier fre milan pigmeut °
Huerozy gous dor the gue fs catsfer ob adbinism |
(ar)
U) Jouy-sach’s Hfcease 2 —* Reported by Tay Acac
; d
5a ei amourotee fiocy ) k a
afoul enz: Hexaminid:
x Syfsony of (Bole in ffgid metatolirn )
x
a Hucto pfs enzyme dpicfeucy in eldidten .
Lardy aetd Cspusngo Bipids) starts 1 ceumalading in|
marve sueath. 4 slowly block the passeye of, nerve(9) Cyst forests ~ flatosomal one
x oi fc om} slo most common df,
X gle body Produers abnowmal glycoprotein
WHE jue galt metabolise.
X te swea} pewome ¥ fox in nach =
y Dbnormal productfou of mucus:
Dung, Paucweast 4 Muer ?
i\ yespivdory syslem) ;
x mucud bled
( clepeet ol, atfgesteur
(4) Gaveuan’s afscast -? Oafefeues 4p Graco. cereboroeide
cut
fn metabolism of
owch plays fmportauk vole
eu
QF pid»
A Sicxte-cetl anaernio .
7 Cooley Anacmucr - 6 :
( cD) qhatiarenia: Auitosomad rewphue Atsorder :
qhavwenta:, Ae :
Se he :
v aS
qhaviagemia A qualiasemia
Hen 4
en yeas 4 19A2 160
(4 altel an)
vespousible or
De)
6 16 Production Y
Of. globin ctain. Hee Responsible Er Fe
B-globin catas nore
Side er curaomd - gutctomal TreHte
Ton 6 amino au (iene
chain fs veplaced by vatine -
Nok qhattesemia +; Quasditatiuo auacmio
Sfeide -cell auacwe - Quatitatice eH a
® Goucheus_dtseare
Goucher —dtseatt - :
Galactosemia = Hueto dep ficency 4, GPT ene-
( Galactose prosphale usidy| frausfer aie)
Affected Person unable 10 (ouvert galactone fo
Glucose
wR mMFiK become Joxic to galactose rfc frf ods
x CWid usuatly Afes ak age of 3
DH linked Recessive’
Btn
Auchenns muscu shop (pmo)
y Helinked yecessive
bee kak Ov abnormality of Lyshoptan pouin