Mendel and the

Gene Idea
Key Concepts:

1. Mendel used the scientific approach to identify

two laws of inheritance.
2. The laws of probability govern Mendelian
inheritance.
3. Inheritance patterns are often more complex
than predicted by simple Mendelian genetics.
4. Many human traits follow Mendelian patterns of
inheritance.
Definition of Terms:
1. Genes units of information about
heritable traits (Mendel)
2. Alleles different molecular forms of a
gene
3. Genotype the combination of alleles in
an individual
4. Phenotype observable expression of
allele combination
Definition of Terms:
5. Dominant allele - with noticeable effect
when present in just one copy (e.g. PP or
Pp)
6. Recessive allele - with hidden effect;
expressed when present twice (e.g. pp)
7. Homozygous identical alleles (e.g. PP or
pp)
8. Heterozygous not identical alleles (e.g.
Pp)
Concept 1.

Mendel used the scientific

approach to identify two laws of
inheritance.
Mendels Work
 2 Laws of Inheritance
1. Law of
Segregation
Two alleles of a
heritable character
separate (segregate)
during gamete
formation and end
up in different
gametes
Remember: the two
alleles are present in the
homologues w/c separate
during Meiosis I
 Maternal Paternal

Rr

Meiosis I
homologues
separate

r R
Meiosis II
sister
chromatids
separate

r r R R
2 Laws of Inheritance
2. Law of Independent Assortment
Each pair of alleles segregates independently
of each other pair of alleles during gamete
formation
Concept 2.

The laws of probability

govern Mendelian inheritance.
Probabilities
Rr

R; r

R R = RR

r r = rr

R r = Rr
Rr + Rr = Rr
Monohybrid Cross (Rr x Rr)
Punnet
Square
 R r

R RR Rr

r Rr rr

Genotypic ratio = 1 RR : 2 Rr : 1 rr
Phenotypic ratio = 3 Round : 1 wrinkled
 Try this one
Pp x Pp

P p

P
p
Monohybrid
Cross

GR 1:2:1
PR 3:1
Test Cross

p p
 Y yellow
Dihybrid Cross y green
R round
YyRr YyRr (yellow, round) r wrinkled
Gametes formed?
YR

YyRr Yr

yR

yr
Dihybrid Cross
What is the Phenotypic Ratio?
 9:3:3:1 YyRr x YyRr
9 yellow round 3 = 9
3 yellow wrinkled 3
3 green round 1 = 3
1 green wrinkled
3 = 3
1
1 = 1
Concept 3.

Inheritance patterns are often

more complex than predicted
by simple Mendelian genetics.
 Degree of Dominance Description Example

Complete Heterozygous phenotype

dominance of 1 same as that of

Extending allele homozygous dominant

Mendelian Incomplete dominance Heterozygous phenotype

of 1 over the other intermediate between the
allele two homozygous

Genetics phenotypes
CRCR CRCW CWCW

for a Codominance Heterozygotes express

both phenotypes IAIB
Single
Multiple alleles ABO blood group
Gene Genes that have more
than two alleles
alleles
IA, IB, i

Pleiotropy One gene is able to affect Sickle-cell disease

multiple phenotypic
characters
MULTIPLE ALLELES ABO Blood Groups

Blood types

A B AB O

Genotypes

AA BB AB OO
AO BO

IAIA IBIB IAIB ii

IA i IB i
1. AB x OO

Gametes - A and B
-O

Offspring = AO and BO
2. AA x OO = all children AO

3. child O, mother A

alleged father 1 - AB
alleged father 2 - B
 Relationship among
genes Description Example

Epistasis One gene affects

Extending the expression
of another
Mendelian
Genetics
for 2 or
more Polygenic
inheritance
A single
phenotypic
Genes character is
affected by two
or more genes
Concept 4.

Many human traits follow

Mendelian patterns of
inheritance.
Pedigree Analysis
Widows peak Attached earlobe
Recessively and Dominantly
Inherited Disorders
Albinism Achondroplasia
Multifactorial Diseases
Have both genetic Heart disease
and environmental Diabetes
components Cancer
In many cases, Alcoholism
hereditary
Schizophrenia
component is
polygenic Bipolar disorder
Sex-linked Disorders

- located on the sex chromosome

- gene produces a phenotype not
related to sex

- X linked ,Y linked
Transmission of X chromosome
XX female

XY male

XX x XY

XX : XY
daughter son
X linked recessive traits

1. Color blindness

2. Haemophilia

XX : XY
daughter son
*defective gene is guaranteed to manifest in any
male who carries it
Haemophilia impaired blood clotting

www.pathguy.com
Haemophilia the royal disease

Queen Victoria
Haemophilia inheritance

Affected :
XhXh Xh Y

Normal :
XH XH XHY
XH Xh
 XH Xh x Xh Y

probability of :
hemophilic daughter -
hemophilic son -
normal daughter -
 X H X h x X Y
h

Normal Daughter
- Asymptomatic carrier X H Xh

Normal Son
XH Y
Haemopilic Daughter
X h Xh
Haemophilic Son
Xh Y