TOPIC 3 GENETICS

3. 1.1 GENES

Gene consists of a length of DNA which influences physical & behavioural characteristics

07¥
ENES : a seauence of DNA that encodes for a specific trait

CHROMOSOME

Application COMPARE NO of GENES HUMANS YEAST

-

3 bit base pairs of DNA -

single celled
least Ecoli 3,200 40,000 12 base pairs
genes of DNA
-

mil
-

Yeast -

Lifespan : 60-70 years -

6000 genes 31% human
eavivaienr
Fruit fly
Humans
Water Flea
Rice

Most Black Cottonwood 461000

3. 1.2 GENE OCCUPIES

P ARM

CENROMERE →
{(
LOCUS =
The specific location occupied by a gene on the chromosome
Everyone [ same species ] have the same gene at the same loci on the
same chromosome . Eg ,
on chromosome 7 ,
Q arm every single human has

• a ..
a gene a. me www..ua . . , , , www.aw ,

3. 1 . 3 ALLELES

ALLELES : Alternative forms of a gene that codes for the different variation of a specific trait

for
eye colours examine
↓
ONE gene , therefore , they have very similar gene sequences

Differs from 1 or a few base sequence

They are the same sene therefore must the same (SAME LOCUS )
occupy place

-800 DOMI WENT ②② A- ⑤

00 00
-80
RECESSIVE

00
HOMOZYGOUS HETEROZYGOUS HOMOZYGOUS
RECESSIVE

HOMOLOGVS CHROMOSOMES -
Have same length ,
same centromere position ,
same banding pattern . same genes
but different Alleles
out of the 23 Chromosomes in humans
Dif Alleles
→

②② ← game are
22 are

not
homolog us
the same
.
The 23rd pair

⑤⑤ ← same
 3. I. 5- ALLELES FORMED BY MUTATION
MUTATION -

a change in the base sequence .

When gene mutation occurs , new alleles may be formed

mutations can be good bad or cause no change

Beneficial mutation ( missense mutation)

↳ new variation

Detrimental mutation ( nonsense mutation )

↳ truncates the sequence to abrogate the normal function
Neutral mutation Csiienr )
↳ no effect on the functioning feature

MOST common type of Mut is BASE SUBSTITUTION

↳ where 1 base is replaced by another 1

Application SICKLE CELL ANEMIA

SCA is a
genetic disease that is caused by allele mutation ,
caused by base substitution

Mutations to the gene ALPHA -

GLOBIN polypeptide in hemoglobin .
Hb Humans have allele HBA
if base sub were to occur ,
it converts
the 6th codon from GAG to GTG , hence forming a new allele

Hbs
↳ it gets inherited by offspring if it occurs in a cell of the ovary testes that develop in
or
egg or sperm

when the Hbs allele is transcribed ,

the mRNA produced has GUG instead of GAG
↓ ↓
VALINE GLUTAMIC ACID

DNA : GAG → GTC> NON TRANSCRIBED STRAND

( CTC to CAC TEMPLATE )
mRNA : GAG →
GVG
Polypeptide :
from Glutamic Acid (GLU ) → Valine ( )
UAL

Valine causes hemoglobin molecules to stick together in tissues with low 02 concentrations .

the bundles of hemoglobin molecules that form can distort the RBC into a SICKLE CELL
( formation of fibrous hemoglobin strands]

a
1. Can cause tissue
SICKLE CELL 0
damage & form Coors inside the
capillaries which block blood flow NORMAL RED BLOOD CELL
2 . Sickle cells damage much faster than normal cells
↳ hemoglobin bundles & Clumps which damages the cell
-

Normal amounts of 02 transportation

↓

less RBC = ANEMIA liowriscwvnr )

3. 1,6 GENOME

GENOME -

All genetic information of an organism ie . all the base sequences in DNA

Human Genome =
46 Chromosomes ( + DNA in Mitochondria )

3 billion base pairs

21 , 000 Genes

Plants Genome = DNA molecules of chromosomes in nucleus + DNA molecules in Mito & Chloro

Prokaryotes Genome = Much smaller ,

DNA in circular chromosome + plasmid

-
 3. 1.7 HUMAN GENOME PROJECT
Gathered the resources of scientists all over the world to collectively seavence the human genome
1990 -
2003 13 years

most of the genome is not transcribed ( Junk DNA ] , within the junk ,
there are elements that

affects gene expression and Repetitive sequences SATELLITE DNA

What ir achieved
number location size & sequence of gene is established
1. Mapping
-

, ,

production of specific gene probes is allowed

Screening
-

2 .

3. 2 .
1 CHROMOSOME

Prokaryotes do NOT have a nucleus .

it has free floating DNA called NUCLEOID

ˢ" " " " "" " " ° " " " " "" ° ° "
Plasmid
a circular DNA molecule ( CTENOPHORE )
additional DNA
Naked associated w/

g
molecule ,
not proteins

, , 222

" " PROKARYOTES HAVE PLASMIDS

Small circular DNA molecule that contain only a few genes

in prokaryotes NOT eukaryotes
•

Bacteria cells can exchange plasmids via their SEX PILI ( bacterial conjugation)
↳ allow bacteria to evolve new features within a generation .
It can be replicated independently
from the main chromosome

t ⑥?¥⑤1 0%-810
⑤0 I
DONOR CELL
AHA.

RECIPIENT
-
+
^

bridge
CELL
Conjugation Duplicate plasmid

Application

Images Of DNA CE coli )

.
cell were grown for 2 generations in medium containing THYMIDINE
↓

Thymine +
deoxyribose
used to make Nucleotides for DNA replication
Tritium ( radioactive isotope of Hz )
was labelled DNA was produced

•
cells put on dialysis ,
cell was digested .
So the cells were gently burst to release DNA

-
Film Of Photographic emulsion was applied to the surface & left in dark

Atoms Of Tritium to & emitted High energy e- which reached w/ film

decay
( need time for Eboli to replicate & produce new DNA

'
Film was developed & examined
where Tiritivm atom decayed there is dark brain

f- coli DNA = circular

?⃝
 3. 2.3 EUKARYOTE CHROMOSOMES ARE LINEAR DNA MOLECULE
Genetic material of Eukaryotic cell consist of multiple linear molecules of DNA that are associated

with histone protein .

DNA packaged W / Histones are much more compact .
.
'

. higher storage

Eukaryotic chromosomes
1. complexed w/ 8 histone proteins ( octanes ) to form a complex NUCLEOSOME
2 . Nucleosome are linked by an additional histone protein ( Hl -
histone ) to form a
string of CHROMATOSOMES
3. These coil to form SOLENOID STRUCTURE ( 6 cnwmatosomes per turn) condenses to form 30hm fibre
4 .
Fibres forms 100ps ,
which are compressed & folded around protein to form CHROMATIN
5 . Chromatin will Svpercoil during division to form CHROMOSOME that are visible under microscope

NAKED ACTIVE GENES LESS ACTIVE GENES INTERPHASE METAPHASE

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NUCLEOSOME
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SOLENOID
30hm FIBRE CHROMATIN
CHOMATOSOMES CHROMOSOME
DNA

3. 2- 4 EVK HAS CHROMOSOMES WI DIF GENE

Euks have linear molecule of DNA which compacts during cell division

Pavin
[ •-
CENTROMERE

⑧
which divides the chromosome into 2 section
- constriction point

Q arm

[
EUK species possess multiple chromosomes that differ in both their size & position of centromere

↳
staining chromosomes will generate unique banding pattern

The position of a particular gene on chromosome is LOCUS

The Region in which a locus is positioned can be identified via three points of Reference

1. First point =
Number or Letter which denote the chromosome ( 7931 = Chromosome T )
2. Second point = Letter Ca or p) to denote the arm / 7931 = a arm )
3. Third point =
Number corresponding to the G band location ( 7931 = longitudinal position 31 )

If-i
[
3.2.5 HOMOLOGVS CHROMOSOMES
e-
2113 IFNBZ
party interferon
HOMOLOGUS CHROMOSOMES g-
,, , pgp
↳
Chromosomes that shave size ,banding patterns , centromere position _
"' 2 EGFR
& have same genes at the same loci positions ( while the gene
the same alleles be different ] centromere •
are , may

Organisms inherit sequences from BOTH parents

Q ARM
-
2 copies of each chromosome ( 1 . maternal Origin & paternal ]
s, , , ⇐

H chromosomes must be separated in Gametes ( via Meiosis) prior to reproduction

to prevent chromosomes from doubling TCRB
a- 35
of
] antigens
A chain
receptor
on 1- cell
 3. 2. 6 / 7 HAPLOID & DIPLOID

HAPLOID NUCLEI ( n) DIPLOID NUCLEI ( 2n)

NO
-

Of chromosome of 2

per Type

NO '

of Chromosome 23 46
in Human

I 2
NO
.
of copy of each

gene
Gametes somatic cell

Example cell (Egg ,

sperm cells ) ( Any other cell )

created by Meiosis created by Mitosis

present in bacteria (asexual ) in Animals & plants

fungi

3. 2.8 NUMBER OF CHROMOSOMES = SPECIES

chromosome number = feature of members of a species

•
Dif Diploid number cannot Interbreed
•
if they do ,
offspring = infertile

Application

Paras can's Eauovvm ( nouns] Rice Homo Sapiens Pan troglodytes Canis familiaris
species
chromosome 4 24 46 48 78

3. 2.9 KARYOGIRAMS

Number & types of chromosome in a Eukaryote cell ( determined by . . .

)
-
Harvesting cells ( fetus or WBC)
-
Chemically
inducing cell division
↳ arresting mitosis when chwms condense
-
Mitosis halted win determine Chronis appear with sister Chromatid

Chronis stained & photographed

↳ arrange into homology pairs

-
Size
-

Autosome us Hetero some

chromosome type
-

Application DOWN SYNDROME

used to determine Gender or test for abnormalities

Down syndrome
-

3 copies of Chwm 21 ,
Trisomy 21
-

nondisjunction event in one parental gamete

-
extra genetic material causes neural & physical delays
3.2.10 SEX
0 0 ""↳ shorter
sex chums = Heteros owes
✗✗ ✗y

Y Chwm ↑
-
genes for sex characteristics @ 9. SRY gene) humorous

Remaining Chwms = autosomes

MITOSIS
 PROPHASE in
-

TAPHASE Anaphase TELAPHASÉ ,

CYTOKINESIS

Mitosis
↳ Growth
,
Tissue damage
÷;
3. 3 . I 2h NUCLEUS DIVIDE BY MEIOSIS

Meiosis Divide 2 ✗ 2h has 2 Chums of forms

Meiosis 1
11
the same type ,
HOMOLOGUSCHROMS
⑤ Diploid
daughter
.

2 nuclei after first Division n

Meiosis 11

11 11
Each divides again to form n
only 1 chums of each

4 nuclei . ( Haploid) type .

Thus ,
iris a REDUCTION DIVISION
Cells in Meiosis 1 has 1 carom of each type =
halving Chvoms happens in meiosis I
2 nuclei produced by Meiosis I have haploid chums ,
but each Chwm = 2 Chromatid
Chron

3. 3.2 HALVING OF CHROMOSOMES Before Division

Homologous pair
qq.fr
process of Meiosis consist of 2 cellular divisions of caroms
•
first Meiotic division separates pairs of Homologous ↓
Chromosomes to Yz the chromosome number ( 2n → n ] Interphase -
Chvoms replicate
-
The 2nd meiotic division separates sister chromatids Homologous
REPLICATED
pair of Jy••Ñf•§
( created by the replication of DNA during Interphase) chromosomes

I first
11
Meiosis -
cell division

Homologous

replicated
pair
chromosomes
of
separate
☆µ••§ ☆µ••§

↓ ↓ ✓ ~

Meiosis 11 -

2nd cell division

3. 3.3 DNA REPLICATION

sister chromatid separate
qq.gg ok §
Meiosis preceded by interphase during which DNA replicated ( the S phase) to produce two
is , is in
genetically copies
•
2 DNA molecules are SISTER CHROMATIDS & are held together by CENTROMERE
sister chromatids separated during Meiosis 11 following the separation of HOMOLOGOUS Chromosomes in Meiosis 1
•
.

Sister chromatids HOMOLOGOUS CHROMS

centromere
-
1
r §
Homologies chromosome
REP " ""°"
>

F-
f Ff
w

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SISTER CHROMATIDS
 23 pairs of chromosomes

Meiosis → 4 vnidentical daughter cells , used for sexual reproduction

HAPLOID ,
-5 have half of original genetic information

PROPHASE 1 sister identical

beginning

*
chromatids at the

/
_

◦
nuclear membrane dissolve
also '" " "" is
. centrioles move to opposite form
. Spindal fibres form £
-

supercoiling
•

Homologies chromosomes pair up & form BIVALENT

•

Crossing over occurs between non -

sister chromatids
•
the point where they lie is called CHIASMA

METAPHASE 1 line up ar eauator •

Nuclear envelope ndissapear

•

'
spindle fibres form & SF attach to the centromere "

centromeres align along the eavator

÷ .i
.
-

Bivalent pulled apart

ANAPHASE I
•
SF shorten & 2 centromeres of a

•
Bivalent
Pairs of
to opposite
chromatids
Pole
separate
¥; !

TELOPHASE I

→
1,

'
SF disappear " " " "" "" °

'

Nuclear envelope forms again (maybe)

-
Chiron ] decondse
•
NO DNA REPLICATION
to ,
'

cytokinesis occurs form 2 haploid cells

PROPHASE 11

⑤ x
'
centrioles separate
-

spindle form
•
Chums decondense
•
Nuclear envelope disappear

METAPHASE

•¥÷ ÷i÷
11
•

Chwm become attached to spindle equator by centromere

-

centromeres replicate & Pull apart as SF shorten

ANAPHASE 11
chromatids apart

É
•

pulled
.
move to opposite poles i.
g-
-
-
.

TELOPHASE 11

⑧ ⑧⑧
•
After chromatids reach the Poles
•

spindles dissapear
nuke form
•

envelope
-
4 Uni denticle davgter cells
?⃝
?⃝
 CROSSING OVER prophase 1

88 →

8D 0
CHIASMA-1A
→
exchange
Of
DNA
88 .
Recombinant chromosome

only happens on one side , between homologous chums

happens at the end of the chromosomes

-

Rave occuvance ,
not all chromosomes cross over

RANDOM ASSORTMENT only meiosis

GENETIC VARIATION
-

crossing over

Random assortment

s-Randomyfetiiisationi.li
-

iii.
: : iii.
! ! Y, Y, Advantages in genetics
-

gives variation , allowing adaptations to the

changing environment
chromosomes are
randomly assortment during ANAPHASE 1 Disadvantage

High variable More time low fertilisation rare

creating ,
-

Reproduction organ

2h → n =
pairs of chromosomes -
NOT 100% Gaurenree

223 = 8 000000

sexual reproduction

POLYPLOIDY ~
2h "

✗
"• common in plants
Meiosis
[ 2h ↳ fertile if there is an even number of
y
,
Chromosome , cannot it 3h

diploid when the cell have -

they are viable allows turn to reproduce

when 2 ,

cell fuse together more than 2 complete

2"

h✗ of
"
Sers chromosome

4h

, ; y
"
Polyploidy

Application ND CAUSE DOWN SYNDROME

DISJUNCTION Separation Of (Anaphase 1) each daughter has 1 copy of chron

-

Homologous Chromosomes NORMAL ,

NON -

DISJUNCTION -

Homologous chromosomes or sister chromatids do not separate at Anaphase

Nondisjunction can occur in meiosis 1 or 2 .

only happens in meiosis

separation of chromosome I
↓
no

TRISOMY 21

0 , 3 Sers of caroms

correlation between Age of Mother

Amniocentesis -

drawing Amniotic Fluid from uterus

Done during 2nd Trimester ( 15 -

18 weeks ) /% Chance of Miscarraige
,

Chorionic villus
sampling -
sample from villi

chorion = Membrane of the villi

2% of Miscarriage
?⃝
?⃝
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3. 4 .
1 PRINCIPLES OF INHERITANCE
Homozygous Dominant BB
PHENOTYPE -

Characteristics they show "◦ " ◦ ↳ " ° '

/ Homozygous Recessive bb
GENOTYPE -
The Alleles pair of the organism \
Heterozygous Bb

CODOMINANCE -

Both allele have an effect when present together ( rep by uppercase letter w/ superscript]

-00$
Phenotype Black Speckled White

Cwcw
's
Cw
☐
Genotype CBC [

ABO Blood Group

Antigen A B Antigen A -113 Neither A or B

Antigen

Antigen 0• •
.
÷ 0

Antibody in Plasma Anti B Antibody Anti A Antibody Neither Both Antibodies

Blood Type TYBEA TYPE B TYBEAB TYPE 0

no B or AB blood no A AB blood Can have any Only 0 blood
- -
. .

or

'
can A or 0
-

can have B or O ↳ universal recipient ↳ universal donor

/ =
immunoglobulin (Antibody)

Allele for Antigen A -

/
A
possible genotype for blood group A -

/ AIA or 1A i
B / Bi
☐
Allele for Antigen -
/ blood group B -

/
☐
/
☐
or

Allele for no Antigen -

i blood group AB -

1^-113
blood group 0 - i i

Autosome -

Non sex Chromosomes

Autosomal Recessive -

Cystic Fibrosis

Autosomal Dominant -

Huntington 's disease

co -
dominant -
sickle cell anemia
Hba = Normal allele

Hbs = sickle cell anemia

"

Hbs Hbs Hbs

"
"
Hb Hb Hb
NORMAL BOTH NORMAL SICKLE CELL
&
SICKLE
co -
dominance

"
survival rare of Malaria patients lower if patients have sickle cell Hb
but if Hbs Hba has higher survival rate

AA AS aa

susceptible Malaria resistance malaria Resistant malaria but

'

to to to
-
.

no sickle & only mild sickle cell disease has fatal sickle cell disease
 Autosomal Recessive -
CYSTIC FIBROSIS
Chvom 7
'

↳ caused by RECESSIVE allele of CFTR gene on

i. autosomal recessive disorder

•

faulty chloride channels

symptoms
^
excess salt in shear
-
thick mucous

blocked pancreatic duct

-

male
Female

redeye
white eye
r
✗ r
✗

✗
R
✗ Chwm
w/ dominant allele
✗
" "" " " """" e.

Y Y chromosome

Female ¥7
"
Red eye ✗ ry
R R
✗ ✗

(↳
^
④
¥;×
.

✗
sex linked genes on sex chromosomes

✗ Chromosome → 153 million base pair

2000 genes

Y chromosome → 50 minion base pair

78 gene

APP sex linked inheritance disease

Red Green Colour Blindness

-

RECESSIVE allele of gene for a

photoreceptor protein which is responsible for detecting light of specific 7
-
common in male

R dominant
if Mother is carrier if father has
t recessive
R r
✗ ✗ Y

if father does not

✗ RY
 HAEMOPHILIA
-
sufferers cannot make Factor VIII ( one of clotting factor]
-

Hemophilia allele is RECESSIVE

H dominant men that has women that doesnt ( nor carrier]

"
n recessive ✗ Y X
"
✗
4

that carriers
" n
✗ ✗

PEDIGREE

☐ = Male

0 = Female

☒ ⑧ = If individual is affect

-
=
Mavvaige

/ =
Offspring