Mitrofan Claudia Gabriela

G University of East Anglia

School of Chemical Sciences
and Pharmacy, Norwich, UK
klauswitz_07@yahoo.com

The History of Genetics Istoria Geneticii

The aim of this article is to provide a brief
history of the development of the modern
genetics. The new science of heredity
and inheritance, thus the law of heredity
are explored. Classical genetics is now re-
garded as a triumph of modern biology,
because it allowed the scientists to unlock
the secrets of nature and life and eventu-
ally give the mankind control of the material
world.
Acest articol isi propune sa prezinte o
istorie succinta a dezvoltarii geneticii
moderne, asa cum o stim noi astazi. Stiinta
ereditatii si a mostenirii genetice este
prezentata impreuna cu toate conceptele
propuse de genetica clasica. Acesta stiinta
uimitoare a permis cercetatorilor sa
dezlegege misterele naturii, sa prezinte
stiinta vietii si sa aduca raspunsuri la
intrebarile care sunt pe buzele tuturor.

Genetics before Mendel Genetica inainte de Mendel

As you might imagine every discussion Dupa cum stim cu totii nicio discutie
with regard to the history of a scientific despre genetica
subject starts with Aristotle and Hippo- nu poate sa inceapa
crates. They both developed the theory of fara sa ii
pangenesis, saying that each part of the m en t i o n am pe
body produces something, germ cells as Aristotel sau pe
we now call them. These are, broadly speak- Hippocrate.
ing, the material bases of heredity, since Ambii au
these cells transform into characters of the dezvoltat teoria
offspring. Characters not yet presented in pa nge ne t ici i,
an individual may also be transmitted by cer- con form c ar eia
tain effects of mutilation or loss. orice p art e a
More or less cas- corpului produce CHARLES ROBERT
ual observations in celule care aduc cu DARWIN (1809 – 1882)
plants and animals sine informatia genetica.
were made over a In termeni generali, aceasta teorie sta la
long period, begin- baza geneticii, intrucat orice celula
ning with the ob- produce alte celule fiice care ii mostenesc
servations of Cot- caracterul. Anumite caractere care nu
ton Mather on sunt prezente la un individ pot fi transmise
maize in 1716. prin mutatii sau alte schimbari in procesele
He made many de replicatie. Aceste observatii au fost

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crosses, studied the facute pe plante si animale intr-o perioada
pollination proc- indelungata de timp, incepand cu observatiile

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ARISTOTLE AND PLATO
ARISTOTLE SI PLATON ess , and also rec-
ognized the impor-
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facute de Cotton Mather, pe porumb in
1716. El a facut multe incrucisari, a studiat

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EXPERIM ENTS ON PLANT HYBRIDIZATION

EXPERIM ENTE CU HIBRIDIZAREA PLANTELOR

tance of insects in the process. After all the
research done, he recorded a few cases
where the offspring resembled only one par-
ent, consequently emphasizing the identity if
the hybrids from reciprocal crosses.
Following Mather, Darwin collected a
vast amount of information from the works
of the plants hybridizers, practical breed-
ing of domestic animals and cultivated
plants. He himself carried out numerous ex-
periments with pigeons and with various
plants. He recognized two more or less dis-
tinct types of variations, continuous and dis-
continuous that show domi-
nance and often being
transmitt ed unchang ed
through many genera-
tions.
His conclusions were
clear: crossing has a uni-
fying effect, since hy-
brids are generally inter-
mediate between parents
and the next generations.
Darwin had, however,
diferite procese si a recunoscut importanta
insectelor in procesul de polenizare. La
finalizarea studiului de cercetare, el a
notat cateva cazuri in care planta fiica
semana doar cu un parinte, subliniind astfel
modul in care genele se transmit.
Dupa Mather, Darwin a colectat
informatii vaste din lucrarile predecesorilor
sai, care au facut incrucisari intre plante sau
animale domestice. Chiar el a facut
numeroase experimente cu porumbei si
plante. A recunoscut si descris multe tipuri
de variatii genetice, care prezinta
dominanta si caracterele
acestora sunt transmise
neschimbate.
Concluziile sale au fost
clare: incrucisarile nu pot fi
niciodata aceleasi, chiar
daca sunt facute intre
aceiasi parinti. Darwin nu
s-a oprit aici: el a incercat
sa dome st icea sca
animale care pana atunci
erau doar salbatice. A

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more to say: he thought efectuat de asemenea
that changed conditions incrucisari intre diferite

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such as domestication
stimulated variability
sp ecii de
d em on s tr and
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pl a nt e ,
l egi l e

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G History of
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and also af-
fected the in-
heritance both
in s el ec ti on
within strain
and in crosses
b e t w e e n
strains.
The next im-
portant biolo-
gist, Herbert
dealt with
GREGOR JOHANN MENDEL crosses among
ornamental plants. Perhaps his most im-
portant contribution was his discussion of the
idea that crosses between species are un-
successful while crosses between varieties
yield fertile offspring.
Experiments on Plant Hybridization
carried by Naudin, a contemporary of Men-
del studied a series of crosses involving dif-
ferent types of plants. In several respects
he made real advancements that helped the
next researchers to develop notions that
completed the concept of genetics.
The New Era of Mendelism in Genet-
ics
Everyone agrees that the new science of
genetics was established due to the discov-
eries made by Gregor Johann Mendel.
His life was difficult due to the fact that
the political regime did not allow a priest to
have scientific views (it was considered
unorthodox).Trying to combine his love for
nature and love for God, in 1856 he began
the series of experiments that led to his
paper hence his laws.
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The interest in honeybees made him at-
tempt to cross strains of bees, apparently
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without success. He is also known to have
kept mice but he hesitated as a priest to
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mostenirii genetice.
Urmatorul om de stiinta, Herbert a lucrat
cu incrucisari pe plantele ornamentale.
Cea mai important contributie adusa la
dezvoltarea geneticii este idea conform
careia incrucisarile dintre specii cu caractere
foarte diferite nu au success daca sunt nu
efectuate in conditii de stricta supraveghere.
Experimentele effectuate de Naudin,
contemporan cu Mendel au studiat o serie
de incrucisari efectuate in special pe
plante. El a facut progrese remarcabile in
ceea ce priveste conceptul de mostenire
genetica.
Noua era in genetica – introdusa de
Mendel
Este clar ca bazele geneticii au fost puse
prin descoperirile facute de Gregor Johann
Mendel. El si-a dedicate intreaga viata
cercetarilor stiintifice. Nu i-a fost usor insa;
regimul politic il impiedica sa faca publice
descoperirile sale. Este de admirat faptul ca a
combinat dragostea pentru natura si pentru
Dumnezeu, si in 1856 a materializat aceste
pasiuni in cercetarile si descoperirile sale care
stau la baza geneticii moderne. Interesul
in albine l-a facut sa creeze incrucisari cu
aceste insecte, fara niciun success, din
pacate. A incercat si
experimente pe
s o a r e ci , insa
convingerile sale
religioase l-au
im piedic a t sa
f o l o s e a s c a
mamifere pentru
cercetarile sale.
Singurele detalii
d e s p r e
experimentele
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MENDEL DOING
si EXPERIM ENTS IN THE
cercetarile sale le MONASTER Y’S GARDEN
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G History of
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carry out experiments on
mammals.
The only details that we
know about his experiments
and life appear in Mendel’s
letters to another correspon-
dent of the Austrian Re-
gional Report Magazine.
The picture that emerges is
of a man very actively and effectively ex-
perimenting, aware of the importance of
his discovery, fitting into the image of the
frustrated genius.
Over the next few years Mendel per-
formed his classic experiments on hy-
bridization, using peas grown in the mon-
astery garden. These were undertaken to
show that in this species characters can
be treated as distinct units or elements
which are transmitted unchanged from
parents to offspring. Using what suitable
techniques of artificial fertilization,
Mendel performed the appropriate crosses
and showed that in the first hybrid (F1)
generation, one character out of each pair
appears in all hybrid plants.
The other character has apparently dis-
appeared, which he described by saying that
one character in the pair was dominant.
In the case of height when tall and short
plants were crossed all the hybrids were
tall, so tall is the dominant character.
Mendel then self fertilized the hybrids to
produce the second hybrid (F2) genera-
tion, where he observed the famous 3:1 ra-
tio. What Mendel called the recessive
character reappeared in one quarter of the
F2 plats, giving a ratio of three dominant
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(e.g. tall) to one recessive (e.g. short).
Mendel explained this phenomenon of
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the segregation of characters by suggest-
ing that the first hybrid generation com-
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aflam din corespondetele lui
Mendel cu Jurnalul de
Stiinta Australian. Mendel
apare ca un om foarte activ si
pasionat de stiinta, mereu
dornic sa experimenteze sau
sa cerceteze ceva. Nu apare ca
un classic geniu, mereu fustrat
si ingandurat, pessimist in
legatura cu descoperile sale.
In urmatorii ani, Mendel a cercetat
fenomenul de hibridizare, folosind
mazarea crescuta in gradina manastirii
sale. Cercetarile efectuate au aratat faptul
ca orice character al unei specii trebuie
tratat individual, fiind unic si transmitandu-se
neschimbat (de cele mai multe ori) fata de
caracterul parintilor. Este de admirat
faptul ca Mendel a folosit o tehnologie
mult superioara fata de ceea ce alti oameni
de stiinta foloseau, la vremea aceea. De
exemplu, fertilizarea artificiala care o
stiinta complet noua, prin care a demonstrat
ca un character al parintilor s-a mostenit la
toate fiicele. Celalat character, recesiv, al
parintilor a disparut, in aparenta. Faimoasa
ratie de 3:1 a provenit din acest
experiment. Mendel a numit caracterul
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G History of
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care s-a transmis la fiice dominant si cel
care a disparut, a fost numit recesiv.
Cu ajutorul cercetarilor efectuate, el a
descris si explicat in detaliu fenomenul de
segregare, sugerand ca prima generatie
mosteneste un cod genetic modificat (o
combinatie intre codurile genetice ale
parintilor). In vremurile de azi, oamenii de
stiinta, au realizat ca ideile promovate de
Mendel sunt prea idealiste pentru a fi
adevarate. Nici macar azi oamenii de stiinta
nu pot obtine o ratie de 3:1 in ceea ce
priveste hibridizarea.

HUMANS HAVE 46 CHROMOSOMES Drosophila

OAMENII AU 46 DE CROMOZOMI
Drosofila este la fel de importanta ca si
bined the hereditary potential of both oamenii, ar putea afirma orice om de stiinta
characters, the recessive being hidden but care lucreaza cu acesta specie. A fost aleasa
nevertheless available for transmission to acum mult timp ca si material genetic
the next generation. pentru ca era usor de manevrat. In plus
A rather different problem was pointed toate prezicerile oamenilor de stiinta in
out by scientists, who noted that the re- privinta rezultatelor genetice efectuate pe
sults obtained by Mendel are too good to be
true. He would have had to be very lucky in-
deed to get ratios as close as he did with
the theoretical prediction.

Drosophila Specimen
Drosophila is as important as humans,
at least for geneticists. It was not chosen
at the beginning as a experimental mate-
rial because the ratios obtained were very
poor.
The deviations obtained from the theo-
retical Mendelian ratios were rarely close.
The phenomenon was due to considerable
differences in the mortalities of insects in
pupal stages, before experiments were

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made and results were counted.
The problem was not the Drosophila,

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but the scientists who did not prepare the
culture method carefully.
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G History of
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Morgan was the first scientist to report
the first sex-linked lethal allele in Droso-
phila by introducing marker genes and de-
tecting them.
It soon became evident that such reces-
sive lethals represent the largest single
class of mutant in Drosophila.
This is why this small insect became very
useful for studying mutations.
Sex Determination
Theories of the determination of sex
were already numerous in Aristotle’s time,
and he discussed many of them.
His own view was that there is, in each
embryo, a sort of contest between the
male and female potentialities, and the
question of which prevails, that is, the fre-
quencies of the two sexes, may be influ-
enced by many factors, such as the age of
parents, the direction of wind, etc.
The constancy of chromosome number
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for a species was known, and it was known
that this number was usually even, equal
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numbers coming from the egg and from the
sperm.
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acaesta insecta, nu se
adevereau, nici macar
teoriile lui Mendel nu se
aplic au. Feno menul,
explicat mult mai tarziu,
era pus pe seama ratei
mari a mortalitatii in
stadiul de pupa.
Problema nu era la
Drosofila, ci la oamenii
de stiin ta c ar e nu
pregateau in detaliu
experimentul.
Morgan a fost primul
mare om de stiinta care a
reusit sa incruciseze
Drosofila, si a descris teoria conform
careia unele caractere se transmit
conform sexului produsului de conceptie.
Mai tarziu acesta teorie a fost confirmata
ca si cauza principala a mortalitaii la
drosofila. Asa a devenit aceasta mica si
neinsemnata insecta foarte importanta
pentru studierea mutatiilor.
Determinarea sexului
Teorii care sa prezica determinarea
sexului unui produs de conceptie au fost
inaintate inca de pe vremea lui Aristotel.
Chiar el a introdus conceptul de embrion,
care nu are caractere sexuale definite, si
care mai tarziu se poate dezvolta fie intr-o
fata sau intr-un baiat. De asemenea el a
studiat frecventa nasterilor de fete sau baieti,
si a concluzionat ca factori externi si
interni, cum ar fi varsta parintilor, starea lor
fizica, etc ar putea influenta sexul
copilului.
Fara nicio legatura cu cele mentionate
anterior, este demonstrat stiintific acum
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ca numarul de cromozomi si tipul acestora
sunt factori esentiali in ceea ce priveste
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It was known that each chromosome
divided longitudinally at each somatic divi-
sion, and that this division is initiated by an
equal division of each visible granule
along the length of the chromosome, It
was also known that the reduction in chro-
mosome number is accomplished by the
last two divisions before the production of
the mature gametes.
Further, it was generally supposed that
the chromosomes are the bearers of the
essential hereditary materials. There
were, however, a number of things, now part
of common biological knowledge that
were not known. It was generally supposed
that, when the chromosomes reappear at
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the end of the resting stage, they first do so
as a single continuous thread, which then
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breaks into the number of chromosomes
characteristic for the particular species.
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determinarea sexului.
In diviziunea somatica, cromozomii se
divid longitudinal, si acesta diviziune este
determinata de o granula care se situeaza in
mijlocul cromozomului.
Reducerea numarului de cromozomi,
este un fenomen care se produce inaintea
diviziunii gametilor maturi.
Genetica Classica
Genetica clasica incepe cu paralelismul
intre studiile efectuate de Mendel, care au
dus la descoperirea segregarii si a
comportamentului cromozomilor in
timpul meiozii si a fertilizarii.
Teoria Cromozomiala a aparut mai
tarziu ca un pas crucial in stabilirea
geneticii ca o stiinta autonoma a
ereditatii.
Mendel a folosit concepte precum
genotip si fenotip ca sa explice studiile
predecesorilor sai. Fenotipul poate fi
influentat de tot felul de factori de mediu
non ereditari, pe cand genotipul depinde
doar de caracterele parintilor si modul cum
acestea sunt trasnmise.
Se crede ca toate misterele acesti lumi
vor fi descoperite mai devreme sau mai
tarziu, insa marea diferenta in intelegerea
acestei lumi nu o fac descopririle stiintifice,
care sunt limitate publicului larg ci felul
cum oamenii de stiinta aplica noile teorii,
creand astfel
produse care sa
a j u t e l a
imbuntarirea vietii
sau a calitatii
acesteia. Genetica
este stiinta care
aplica acest a
teorie.
T o a t e
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EGG CELL AND SPERM
OVUL SI SPERMATOZOIZI
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Classical Genetics
Classical genetics starts with the paral-
lelism between the segregation of Mende-
lian characters and the behavior of the
chromosome during meiosis and fertili-
zation.
The Chromosome Theory appeared
later as a crucial step on the pathway of es-
tablishing genetics as an autonomous sci-
ence of heredity.
Johanssen used the concept of the
genotype to dismiss traditional studies of
the phenotype (individual characters) as
irrelevant for the understanding of heredity. CHROMOSOMES
Since the phenotype could be influenced CROMOZOMI
by all sorts of non-hereditable environ- descoperirile facute au dus la crearea de
mental factors, only the geneticists could noi idei si tehnici care sunt momentan
see through to the underlying content of the aplicate in medicina.
germ plasm which alone was responsible Istoria geneticii nu se opreste aici; sunt
for determining the character of future constienta ca acest articol va fi invechit
generations. peste ceva timp. Tot ce trebuie sa facem e
There is a general view that scientific sa cercetam si sa ajutam la crearea unei
discoveries are more of less inevitable, and vieti mai bune.
that it makes little difference for the general
public whether or not a particular individ- Bibliography and Iconography
ual makes a discovery at a given time. William S. Klug, Concepts of genetics,
In most of the cases it will not be under- London: Pearson Benjamin Cummings,
stood and it will not have any effect on fu- c2009;
ture events until someone else makes the Pierce, Benjamin A, Genetics : a concep-
same discovery again, and eventually con- tual approach, New York : W. H. Freeman
firm the theory. and Co., c2008;
The development of genetics is one of Evans, Joanne, Cell biology and genetics,.
the best examples of this kind. Edinburgh: Mosby, 2008;
All of the discoveries led to the utiliza- www.cerezyme.com/patient/about/
tion of new ideas and new techniques and to cz_pt_about-genetics-1.gif, 01.03.2009;
rapid, sometimes spectacular, advancements http://fergusonbiology.homestead.com/
in genetics and in other fields of medicine. genetics.jpg, 03.03.2009;
www.cdc.gov/ncbddd/BD/images/

E
The history of this science is primarily a genetics.jpg, Centers for Disease Control
history of ideas, as I reckon that chromo- and Prevention, UK, 03.03.2009;

P
somes or other biochemical products
helped us develop a better life standard.
E
A. H. Sturtevant, A history of genetics,
ESP (Electronic Sholary Publishing), 2001.

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