Gregor Johan Mendel

(1822 1884)

Clugr austriac

A experimentat
mazre

cu

plantele

de

Susinea c factorii ereditari

(genele) pstreaz individualitatea
din generaie n generaie

1865 - Versuche ber Pflanzen

Hybriden von Gregor Mendel

Experiments in Plant Hybridization

by Gregor Mendel

Hibridare - Tipuri
Fenotip
Genotip
Homozigot
Heterozigot

x
+

P
F1, F2
Gena
Alela
Dominant
Recesiv
Caractere alelomorfe

Mendel aplic ipoteza

puritii gameilor

A iniiat experimente cu
34 specii de Pisum sativum
Structura florii exclude

polenizarea strin
ntmpltoare
Perioad scurt de vegetaie
Caractere bine conturate
Multe varieti

Dup 2 ani a ajuns la 22

linii pure

Caractere analizate de Mendel (7):

Stnga dominante
Dreapta
recesive

Forma alternativ a genelor

alel
Fiecare caracter este
determinat de 2 gene (una de
la mam, una de la tat)
Gameii conin cte o
singur alel
Cnd o alel se exprim, iar
cealalt nu are un caracter
notabil, aceast alel este
dominant

Experimentele lui Mendel:

Plante cu caractere distincte

de difereniere

Pe perioada nfloririi hibrizii

de plante trebuie
izolai
reproductiv pentru a exclude
ptrunderea polenului strin
Hibrizii i descendena nu
trebuie s sufere nici o
modificare n fertilitatea sa

Monohibridarea
uniformitatea
fenotipic a F1

Genotipuri n F1
4/4 Ss

Fenotipuri n F1
4/4 netede

Se ncrucieaz 2
indivizi
heterozigoi (Ss)
din F1 i se obin
generaii cu
raport de
segregare
fenotipic.

Genotipuri n F2

Fenotipuri n F2

1/4 SS
1/2 Ss
1/4 ss

3/4 netede
1/4 rugoase

RSF
RSG

3:1
1:2:1

S bob neted

s bob rugos

Y bob galben

y bob verde

Genotipuri n F1

Fenotipuri n F1

4/4 SsYy

4/4 netede galbene

RSF 9:3:3:1
dup forma bobului

3:1
dup culoarea
bobului 3:1

RSG

1:2:2:4:1:2:1:2:1

La ncruciarea formelor parentale care

se deosebesc prin 2 sau mai multe
perechi de caractere, n F2 se produce
o segregare fenotipic independent

(3:1)
n numrul de caractere urmrite

8 tipuri de gamei

27 genotipuri diferite

8 fenotipuri diferite

RSF 27:9:9:9:3:3:3:1

Nr. perechi
alele

Gamei n F1

Segregarea n F2

Tipuri
genetice de
gamei

Combinaii
posibile ntre
gamei

Nr. clase
fenotipice

Nr. clase
genotipice

16

64

27

16

256

16

81

32

1024

32

243

10

1024

1048576

1024

59094

2n

4n

2n

3n

Legea segregrii i asortrii

independente este valid dac:
Gameii i zigoii sunt viabili i viguroi
Gameii purttori de alele se unesc randomizat
Genele sunt localizate pe cromozomi diferii
Genele sunt localizate pe autozomi

Bazele citologice ale segregrii mendeliene:

Fiecare pereche de cromozomi omologi dintr-o

celul somatic conine un cromozom matern i unul
patern

Fiecare pereche de gene analizate este localizat

pe cromozomi diferii

Orientarea
cromozomilor omologi
diviziunii meiotice este ntmpltoare

Gameii obinui pot conine diferite combinaii de

gene

cadrul

Neted

Normal

Neted
Normal

Neted
Pitic

Repartizarea randomizat a genelor

Rugoas
Normal

Rugoas
Pitic

Gameii paterni:
ncruciarea
dihibrid

SB

Sb

sB

sb

SB

SSBB

SSBb

SsBB

SsBb

Sb

SSBb

SSbb

SsBb

Ssbb

SsBB

SsBb

ssBB

ssBb

SsBb

Ssbb

ssBb

sB

sb

ssbb

Rezultatul:
O celul diploid
= patru celule haploide

n ncrucirile efectuate de Mendel, fenotipul

descendenilor hibrizi poate fi prevzut din
genotipul prinilor tiind care sunt genele
dominante i care sunt cele recesive.
Deci, cunoscnd genotipul prinilor putem
caracteriza i anticipa fenotipul descendenilor.

Se pune ntrebarea dac se poate proceda

i invers se poate determina genotipul
unui individ pornind de la fenotipul su?
Aceast problem este deosebit de
important i, chiar decisiv, pentru
lucrrile de ameliorare cnd este necesar
s
cunoatem
dac
indivizii
sunt
homozigoi sau heterozigoi pentru un
caracter urmrit.

Datorit fenomenului de dominan, judecnd dup

fenotip, nu se poate spune dac un individ este homozigot
sau heterozigot pentru o anumit alel dominant.
Forme
parentale
F1

AA

Aa

aa

Aa

n acest scop, s-a recurs la numeroase ncruciri i s-a stabilit c cea

mai adecvat este ncruciarea ntre un membru al generaiei hibride F1
i un membru al unei linii parentale backcross sau retroncruciare.

Forme
parentale
Gamei

Aa
(individ de analizat)
A
a

FB

AA

AA
(forma parental)
A
A

x
AA

Aa

Aa

Uniformitate fenotipic
Cnd se ncrucieaz un individ de analizat Aa, cu forma parental AA, toi
descendenii obinui vor fi identici din punct de vedere fenotipic.
Toi gameii formei parentale AA vor fi de un singur tip, purttori ai genei
dominante A.
Hibridul de analizat Aa va produce 2 tipuri de gamei: cu gena dominant A i
cu alela recesiv a.
Ca rezultat al combinrii ntmpltoare a acestor gamei, n descendena acestei
ncruciri segregarea fenotipic nu are loc datorit prezenei alelei dominante A.
Genotipic, ns, vor fi diferii, 50% fiind AA i 50% Aa.
n cazul acestei ncruciri, necunoscnd genotipul individului de analizat, lipsa
segregrii fenotipice nu ne dezvluie formula genotipic.

Acelai rezultat s-ar obine i dac

individul de analizat ar fi AA.
Forme
parentale

AA
(individ de analizat)

Gamei

A
A

FB

AA

AA
(forma parental)

A
AA

AA

Uniformitate fenotipic

FB descendena unui backcross

A
AA

Forme
parentale
Gamei

Aa
(individ de analizat)
A
a

FT

Aa

aa
(forma parental)
a
a

x
Aa

aa

50%
Segregare
fenotipic

aa
50%

Uniformitate fenotipic

Cu totul alt rezultat se obine atunci cnd se ncrucieaz un individ de

analizat Aa cu forma parental homozigot recesiv aa.
Descendena va segrega fenotipic n 2 categorii n proporie de 1:1, o
categorie fenotipic reprezentat de gena dominant A i o categorie
determinat de aa.

Baza acestei segregri este faptul c toi gameii formei parentale aa vor fi
de un singur tip (a), iar hibridul Aa va forma 2 categorii (A i a).

n urma fecundrii, jumtate din descendeni vor fi purttori ai alelei A i

jumtate purttori de a n doz dubl.

FT descendena unui testcross

Acest

tip

de retroncruciare sau
backcross a unui organism hibrid cu o
form parental homozigot recesiv,
soldat cu segregarea fenotipic a
descendenilor i dezvluirea naturii
heterozigote a organismului analizat se
numete ncruciare de analiz sau
testcross.

Faptul c testcross-ul este ncruciarea

care
asigur
dezvluirea
structurii
genotipice a unui individ reiese i din
ncruciarea dintre un individ de analizat
AA i forma parental aa.
Forme
parentale
Gamei
FT

AA
(individ de analizat)
A

aa
(forma parental)

A
Aa

a
Aa

Aa

Uniformitate fenotipic

a
Aa

n concluzie:
Dac

dintr-un
testcross
rezult
fenotipic, individul de analizat este AA.

uniformitate

Dac dintr-un testcross rezult segregare fenotipic

de 1:1, individul de analizat este Aa.

Testcross backcross efectuat ntre un individ

cu genotip necunoscut i un individ cunoscut ca
homozigot recesiv, cu scopul de a determina
dac individul n discuie este heterozigot sau
homozigot pentru o anumit alel.

n cazul analizei genotipice a dihibrizilor, ncruciarea

ntre indivizi diheterozigoi cu forme parentale
homozigote recesive duce la realizarea n FB a unui raport
de segregare fenotipic de 1:1:1:1. Apar 4 categorii
fenotipice corespunztoare celor 4 tipuri de gamei
produi din dihibridul de analizat.

Forme
parentale
Gamei

AaBb
(individ de analizat)
AB

Ab

aB

aabb
(forma parental)

ab

ab

FB

AaBb

Aabb

aaBb

RSF

ab
aabb

O problem foarte important a studiilor

experimentale este aceea a siguranei obinerii
acelorai rezultate n cazul repetrii experienei.
Statistica matematic, prin metodele ei, ne ajut la
evidenierea caracteristicilor eseniale, astfel
nct la observarea unui mare numr de cazuri
individuale, care fiecare n parte prezint deosebiri
de caracter ntmpltor sau nu, s decoperim legile
crora se supun.

Testul
X2
(chi-ptrat)
asigur
estimarea
probabilitii de repetare a fenomenului observat
prin msurarea diferenei ntre 2 serii de variaii.

Procedeul chi-ptrat simplific

msurarea acestor diferene.

mult

Prin acest procedeu aflm dac exist o

diferen esenial ntre 2 sau mai
multe serii de variaii sau diferena
este doar ntmpltoare.

Formula pentru calcul este:

X= d/e
d diferena ntre valoarea calculat i cea observat
e valoarea calculat sau ateptat a fenomenului

O valoarea observat
E valoarea calculat sau ateptat a fenomenului

n valoarea lu X se folosesc numai cifre absolute.

n cazul a 2 perechi de gene alelomorfe Aa i Bb, cu genele A i B

dominante i alelele a i b recesive, ele segreg independent n timpul
ncrucirilor.
ncruciarea ntre 2 heterozigoi (AaBb) va produce 4 clase fenotipice
ntr-un raport de 9 (AB):3(Ab):3(aB):1(ab).
Dac ntr-o polpulaie n care exist cele 2 perechi de gene alelomorfe,
cifrele observate sunt 1080 AB, 210 Ab, 200aB i 110 ab, se pune
ntrebarea n ce msur cifrele observate concord cu cifrele calculate
sau ateptate pentru segregarea fenotipic n dihibridare.

Date observate
Date ateptate
Diferena d
d/e

AB

Ab

aB

ab

1080

210

200

110

9/16 x 1600=900

3/16 x 1600=300

3/16 x 1600=300

1/16 x 1600=100

180

-90

-100

10

36

27

33,33

1,0

X = 36 + 27 + 33,33 + 1 = 97,33

Valoarea lui se compar cu valorile lui din tabelul

special Fisher innd cont de gradele de libertate.
n acest exemplu GL = 4-1 = 3

Din tabelul Fisher, cu ajutorul valorii lui Xi a

gradelor de libertate, se afl valoarea probabilitii
(P).
Valoarea P reprezint probabilitatea de obinere a
unei diferene tot att de mari sau mai mari dect
cea obinut din experiment, prin pur ntmplare.

Cu ce posibiliti ne
confruntarea datelor?

putem

ntlni

din

P < 0,05 (5%)

diferenele nu se datoresc pe deplin ansei, deci
diferenele nu sunt ntmpltoare i ipoteza se respinge.

P > 0,05
datele sunt conforme destul de satisfctor cu ipoteza i
aceasta este acceptat.

n cazul de fa:
3 grade de libertate
X = 97,33
P < 0,05 i anume la mai puin de 0,01 (1%),

Ipoteza segregrii fenotipice n raport de 9:3:3:1

se respinge
probabilitatea repetrii fenomenului, n condiiile
date este de mai puin de 1%. P fiind mic se
conchide c diferenele nu se datoresc n ntregime
ntmplrii i ipoteza se respinge.

594 insecte normale - vg*vg*e*e*

196 aripi vestigiale i culoarea corpului
normal - vgvge*e*
200 aripi normale i culoarea neagr a
corpului - vg*vg*ee
71 aripi vestigiale i culoarea neagr a
corpului - vgvgee
Pentru a verifica dac aceast segregare are

caracter ntmpltor sau este vorba de o

legitate mendelian a segregrii, se aplic
testul .

Date observate
Date ateptate
Diferena d
d/e

vg*vg*e*e*

vgvge*e*

vg*vg*ee

vgvgee

594

196

200

71

9/16 x 1061=

3/16 x 1061=

3/16 x 1061=

1/16 x 1061=

596,82

198,33

198,33

66,32

-2,82

2,93

1,07

4,68

0,0132

0,0432

0,0057

0,3317

X = 0,0132 + 0,0432 + 0,0057 + 0,3317 = 0,3938

La 3 grade de libertate , valoarea lui se plaseaz ntre P=0,90
i P=0,93, deci probabilitatea repetrii fenomenului n condiiile
date este ntre 90 i 95% i prin urmare se poate considera c
abaterile observate se datoresc ntmplrii.
Ipoteza c segregarea se produce n raport de
adevrat, se admite.

9:3:3:1 este

This dominant trait is also called the

photo sneeze reflex. If, when
suddenly exposed to light, you sneeze
(usually two or three times) you have
the genes for achoo syndrome.
Next time you go to a movie, exit the
dark theater through a door that
leads directly outside. It's fun to
wait outside and watch the people
emerge from the movie. Some will
sneeze as soon as they are exposed
to light.
Dominant (have it)
Recessive (don't have it)

A prominent cleft in the

chin is due to the bond
structure
which
underlies the Y-shaped
fissure of the chin.
Females appear to be
less
conspicuously
affected than males.
Dominant (have it)
Recessive (don't have
it)

Nearsightedness,
or
myopia, is a complex
trait with at least 4
gene
loci
involved,
however
the
heritability of myopia is
very high and shows a
dominant
pattern.

Dominant (have it)

Recessive (don't have
it)

A dominant allele causes the

last joint of the little finger
to dramatically bend inward
toward the 4th finger.
Lay both hands flat on a table
relax your muscles, and note
whether your have a bent or
straight
little
finger.
Dominant (have it)
Recessive (don't have it)

If you aren't sure if

you have them, smile!

Dimples are easiest to

see when smiling.

With
dominant
phenotype, you may
have a dimple only on
one side, or on both.
Dominant (have it)
Recessive (don't have
it)

We're kind of cheating here. Eye color, as well as hair and skin
color, is a complex trait; not a case of simple inheritance.

The main pigment is melanin, and the more melanin, the darker
the color.

Although the genetics of eye color is complex, alleles for the

production of melanin dominate those for lack of melanin.

So if we evaluate eye color as being blue (recessive) or non-blue

(dominant) we can treat it as a characteristic of simple
inheritance.
Dominant (have it)
Recessive (don't have it)

The dominant trait is for

lobes to hang free, a bit of
lobe hanging down prior to
the point where the bottom
of the ear attaches to the
head.
With
the
recessive
phenotype, the lobes are
attached directly to the
head.

Dominant (have it)

Recessive (don't have it)

Clasp your hands together

(without thinking about it!).
Most people place their left
thumb on top of their right
and this happens to be the
dominant phenotype.
Now, for fun, try clasping your
hands so that the opposite
thumb is on top. Feels strange
and unnatural, doesn't it?

Dominant (have it)

Recessive (don't have it)

Some people have hair on

the second (middle) joint of
one or more of their
fingers, while others don't.
Having any hair at all means
that you have the dominant
phenotype.

Complete absence of hair is

recessive.

Dominant (have it)

Recessive (don't have it)

If you have the ability

to roll the sides of your
tongue upwards to form
a closed tube, you have
the dominant phenotype
for this motor skill.
Those who are not
dominant for this trait
cannot roll their tongue,
no matter how hard
they
may
try.
Dominant (have it)
Recessive (don't have it)

This trait is
reportedly due
to a single
gene;
the presence
of freckles is
dominant
the absence of
freckles
is
recessive

Early
geneticists
reported that curly
hair was dominant
and straight hair
was recessive.
More recent studies
suggest that more
than one gene may
be involved

While allergic reactions are induced by

things a person comes in contact with,
such as dust, particular foods, and
pollen, the tendency to have allergies is
inherited.
If a parent has allergies, there is a one
in four (25%) chance that their child
will also have allergy problems. This risk
increases if both parents have allergies.

Colorblindness is due to a recessive allele located

on the X chromosome.

Women have two X chromosomes, one of which

usually carries the allele for normal color vision.

Therefore, few women are colorblind.

Men only have one X chromosome, so if they carry

the allele for colorblindness, they will exhibit this
trait.
Thus, colorblindness is seen more frequently in men
than in women.

Is reportedly due to
a single gene:
widows peak

dominant
straight hairline
recessive.

Widows Peak
Hairline
Straight Hairline

For some people the chemical PTC (phenylthiocarbamide) tastes very

bitter. For others, it is tasteless.

the ability to taste PTC shows dominant inheritance and is controlled

by a gene on chromosomes 7.

This gene codes for part of the bitter taste receptor in tongue cells.
One of its five alleles (forms) causes a lack of ability to sense bitter
tastes;
the other four alleles produce intermediate to fully sensitive taste
abilities. Approximately 75% of people can taste PTC while the
remaining 25% cannot.
PTC-like chemicals are found in the Brassica family of vegetables, such
as cabbage, brussels sprouts, and broccoli. People who can taste PTC
often do not enjoy eating these vegetables, since they taste bitter to
them.
Non-tasters tend not to notice bitter tastes and therefore may be
more likely to become addicted to nicotine (which is bitter).

PTC-tasting ability has also provided information related to

human evolution. Populations in Sub-Sahara Africa, and people
who are descended from this area, contain at least five forms
of the gene.
Some of these forms confer a PTC-tasting ability that is
intermediate between taster and non-taster. However, with
only a few exceptions, only two forms taster and non-taster
are found in populations outside
of Africa and their
descendents. This is consistent with the out-of-Africa
hypothesis of modern human origins.
Some scientists think that tasters have fewer cavities,
suggesting that there might be a substance in the saliva of
tasters that inhibits the bacteria that cause cavities to form.
Others think that PTC tasting may be in some way connected
with thyroid function.
PTC tasting was a chance discovery in 1931.