Genetika Mendel

dan Gen-gen pada

Kromosom
Fakultas Kedokteran
Universitas Muhammadiyah Purwokerto
2014

Introduction to Genetics
GENETICS branch of
biology that deals with
heredity and variation
of organisms.
Chromosomes carry
the hereditary
information (genes)
Arrangement of
nucleotides in DNA
DNA RNA Proteins

What is a gene?
A gene is a stretch of DNA whose
sequence determines the structure
and function of a specific functional
molecule (usually a protein)
DNA

mRNA

Protein

GAATTCTAATCTCCCTCTCA
ACCCTACAGTCACCCATTTG
GTATATTAAAGATGTGTTGT
CTACTGTCTAGTATCC

Computer

function sf()
program {document.f.q.
focus()}

Working copy

Specific function

Genes are located in the cell nucleus on

chromosomes
Karyotype

Down syndrome karyotype (trisomy

21)

Gregor Johann Mendel

Austrian Monk, born in what is now Czech
Republic in 1822
Son of peasant farmer, studied
Theology and was ordained
priest Order St. Augustine.
Went to the university of Vienna, where he
studied botany and learned the Scientific
Method
Worked with pure lines of peas for eight
years
Prior to Mendel, heredity was regarded as a
"blending"
process and the offspring were essentially a

Mendels peas

Mendel looked at seven traits or

characteristics of pea plants:

Mendel deduced the underlying principles of

genetics from these patterns
1. Segregation
2. Dominance
3. Independent
assortment

Genetics terms you need to

know:

Gene a unit of heredity;

a section of DNA sequence
encoding a single protein
Genome the entire set
of genes in an organism

Alleles two genes that occupy the

same position on homologous
chromosomes and that cover the same
trait (like flavors of a trait).
Locus a fixed location on a strand of
DNA where a gene or one of its alleles is

 Homozygous having identical genes

(one from each parent) for a particular
characteristic.
Heterozygous having two different
genes for a particular characteristic.
Dominant the allele of a gene that
masks or suppresses the expression of
an alternate allele; the trait appears in
the heterozygous condition.
Recessive an allele that is masked
by a dominant allele; does not appear
in the heterozygous condition, only in

 Genotype the genetic makeup of an

organisms
Phenotype the physical appearance
of an organism (Genotype +
environment)
Monohybrid cross: a genetic cross
involving a single pair of genes (one
trait); parents differ by a single trait.
P = Parental generation
F1 = First filial generation; offspring
from a genetic cross.

Punnett square
A useful tool to do genetic crosses
For a monohybrid cross, you need a square
divided by four.
Looks like
a window
pane
We use the
Punnett square
to predict the
genotypes and phenotypes of
the offspring.

Mendels law of segregation

A normal (somatic) cell has two variants

(alleles) for a Mendelian trait.
A gamete (sperm, egg, pollen, ovule) contains
one allele, randomly chosen from the two
somatic alleles.
E.g. if you have one allele for brown eyes (B)
and one for blue eyes (b), somatic cells have
Sperm
Bb and each gamete will
carry one of B or b
chosen randomly.

B
Eggs

B BB Bb
b

Bb bb

Terminology
Haploid:
containing one
copy of each
chromosome
(n=23)

Sperm

B
Eggs

B BB Bb
b

Bb bb

Diploid:
containing two
copies of each
chromosome
(2n=46)

Terminology

Genotype: the states of the two alleles at one or more

locus associated with a trait
Phenotype: the state of the observable trait

Genotype

Phenotype

BB (homozygous)

Brown eyes

Bb (heterozygous)

Brown eyes

bb (homozygous)

Blue eyes

Mendels law of
independent assortment
Knowledge of which allele has been inherited at
one locus gives no information on the allele has
been inherited at the other locus

S/s

SY
25%

Sy
25%

Y/y

sY
25%

sy
25%

Human eye colour

Simplified view of eye colour
inheritance: biallelic Mendelian trait
Brown dominant:

BB, Bb
Sperm

Blue recessive:

bb
Eggs

B BB Bb
b

Bb bb

Human eye colour

Bb

Bb

P(BB)=1/3
P(Bb)=2/3

P(b)=2/3x1/2=1/3

Bb

P(b)=1/2

?
P(bb)=1/3x1/2=
1/6

Dihybrid cross: flower color

and stem length
TT PP tt pp

(tall, purple)
Possible Gametes for parents

(short, white)
tp

tp

TtPp
TtPp

TtPp
TtPp

TtPp
TtPp

TtPp
TtPp

TtPp

TtPp

TtPp

TtPp

F1 Generation: All tall, purple flowers

TtPp(Tt Pp)
TtPp

TtPp

TtPp

TP

and t p

TP
TP
TP
TP

tp

tp

Dihybrid cross
9 Tall

purple
TP
TP

3 Tall

white

Tp
tP
tp

3 Short
purple

Tp

tP

TTPP TTPp TtPP

TTPp TTpp TtPp

TtPp
Ttpp

TtPP

TtPp

ttPP

ttPp

TtPp

Ttpp

ttPp

ttpp

Phenotype Ratio = 9:3:3:1

1 Short
white

tp

Principle of Independent
Assortment
Based on these results, Mendel
postulated the
3. Principle of Independent
Assortment:
Members of one gene pair
segregate independently from other
gene pairs during gamete formation
Genes get shuffled these many
combinations are one of the

Beyond Mendelian Genetics:

Incomplete Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly
One allele was dominant over
another, so phenotypes were easy
to recognize.
But sometimes phenotypes are not
very obvious

Incomplete Dominance
Snapdragon flowers come in many
colors.

If you cross a red snapdragon (RR) with

RR
rr

a white snapdragon (rr)

You get PINK flowers (Rr)!
enes show incomplete dominance
hen the heterozygous phenotype R r
intermediate.

Incomplete dominance

hen F1 generation (all pink flowers) is self

ollinated, the F2 generation is 1:2:1
d, pink, white

R R

Rr

Rr

rr

Incomplete
Dominance

Human case: CF
Mendels Principles of Heredity apply
universally to all organisms.
Cystic Fibrosis: a lethal genetic disease
affecting Caucasians.
Caused by mutant recessive gene carried by
1 in 20 people of European descent (12M)
One in 400 Caucasian couples will be both
carriers of CF 1 in 4 children will have it.
CF disease affects transport
in tissues mucus is accumulated
in lungs, causing infections.

Gaucher Disease
Gaucher Disease is a rare, genetic
disease. It causes lipid-storage disorder
(lipids accumulate in spleen, liver, bone
marrow)
It is the most common genetic disease
affecting Jewish people of Eastern
European ancestry
(1 in 500 incidence; rest of pop. 1 in
100,000)

Beyond Simple Inheritance: Blood Type

Two alleles affect the phenotype in
separate, distinguishable ways.
Example: AB Blood Type
- has three alleles: A, B & O
- AB co-dominant, O recessive
- genotype represented using IA, IB & i

Phenotype

Image: Bleeding wound, by Crystal

Genotype

Type A

IAIA or IAi

Type B

IBIB or IBi

Type AB

IAIB

Type O

ii

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

ABO Blood Type

You make antibodies against the
antigens of other blood types. .
Q: Which blood type can
accept anyone's blood.
Q: Which blood type is known
as the universal donor. Why?

Phenotype

Genotype

Type A

IAIA or IAi

Type B

IBIB or IBi

Type AB

IAIB

Type O

ii

Image: ABO blood type, InvictaHOG

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

Non-Mendelian inheritance: Haemophilia

Haemophilia A
Males with a mutant gene
are affected
Females with one mutant
gene are unaffected
carriers

Patterns of disease inheritance known for 1000s of

years, e.g. haemophilia

Reference
Here are links to fun resources that further
explain genetics & heredity:

Smart Links

Genetics & Heredity Main Page on the Virtual Cell

Biology Classroom of Science Prof Online.

Pass the Peas song by James Brown performed by the

James Brown Tribute Tour.

Independent Assortment

animation, step-through and

quiz, WHFreeman.

I Think Im Going Bald

Mendels Experiments

song by Rush.

animation, step-through and quiz,

Freeman, S, Biological Science, Second Edition, Pearson Prentice Hall,

Inc. 2006 Pearson Prentice Hall, Inc.

Behind Blue Eyes

She Blinded Me With Science

song by The Who.

music video Thomas

Dolby.
(You must be in PPT slideshow view to click on links.)

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

Review Questions

Thank You