Genetic Information

• Gene – basic unit of genetic

information. Genes determine the
inherited characters.

• Genome – the collection of genetic

information.

• Chromosomes – storage units of

genes.

• DNA - is a nucleic acid that

contains the genetic instructions
specifying the biological
development of all cellular forms of
life 2
 Chromosome Logical Structure
• Locus – location of a gene/marker
on the chromosome.

• Allele – one variant form of a

gene/marker at a particular locus.

Locus1
Possible Alleles: A1,A2

Locus2
Possible Alleles: B1,B2,B3
3
 Human Genome

Most human cells

contain 46 chromosomes:

• 2 sex chromosomes (X,Y):

XY – in males.
XX – in females.

• 22 pairs of chromosomes
named autosomes.

4
Genotypes Phenotypes

• At each locus (except for sex chromosomes)

there are 2 genes. These constitute the
individual’s genotype at the locus.

• The expression of a genotype is termed a

phenotype. For example, hair color, weight,
or the presence or absence of a disease.

5
Genotypes Phenotypes (example)

genotypes

phenotypes

• Eb- dominant allele.

• Ew- recessive allele.
6
 Dominant vs. Recessive
•A dominant allele is
expressed even if it is
paired with a recessive
allele.

•A recessive allele is
only visible when paired
with another recessive
allele.

7
 One Locus Inheritance
Female
A|A 1 2 a|a

Male A|a 3 4 a|a

A| a 5 6 a|a

heterozygote homozygote
8
 Mendel’s 1 Law st

Two
Two members
members ofof aa gene
gene pair
pair segregate
segregate from
from each
each other
other into
into
the
the gametes,
gametes, so
so half
half the
the gametes
gametes carry
carry one
one member
member ofof the
the
pair
pair and
and the
the other
other half
half carry
carry the
the other
other member
member of
of the
the pair.
pair.

Y/y y/y Gamete

production

Gamete
all y
production y/y ½
y½

Y/y ½
Y½
9
 Calculating Probabilities
• We want to predict
patterns of inheritance
of traits and diseases in
pedigrees.

• E.g., we want to know

the likelihood that a
dog chosen at random
from the study
population will have blue
eyes.
10
X-linked Inheritance

Different results obtained

from reciprocal crosses
between red-eyed and
white-eyed Drosophila.

Explanation: The gene

responsible for eye-color
is X-linked. Females have
X-chromosomes, while 2
males have 1 X-chromosome
.and 1 Y-chromosome

11
 Mendel’s 2 nd
Law
• Different gene pairs assort independently
in gamete formation.

.This “law” is true only in some cases

Gene
Gene pairs
pairs on
on SEPARATE
SEPARATE CHROMOSOMES
CHROMOSOMES
assort
assort independently
independently at
at meiosis.
meiosis.

12
 Medical Genetics
When studying rare disorders, 6 general
patterns of inheritance are observed:

• Autosomal recessive
• Autosomal dominant
• X-linked recessive
• X-linked dominant
• Codominant
• Mitochondrial

13
 Medical Genetics (cont.)
Autosomal recessive
• The disease appears
in male and female
children of
unaffected parents.
• e.g., cystic fibrosis

14
 Medical Genetics (cont.)
Autosomal dominant
• Affected males and
females appear in each
generation of the
pedigree.
• Affected mothers and
fathers transmit the
phenotype to both sons
and daughters.
• e.g., Huntington disease.

15
 Medical Genetics (cont.)
X-linked recessive
• Many more males than
females show the disorder.
• All the daughters of an
affected male are
“carriers”.
• None of the sons of an
affected male show the
disorder or are carriers.
• e.g., hemophilia

16
 Medical Genetics (cont.)
X-linked dominant
• Affected males pass the
disorder to all daughters
but to none of their sons.
• Affected heterozygous
females married to
unaffected males pass the
condition to half their sons
and daughters
• e.g. fragile X syndrome

17
 Medical Genetics (cont.)
Codominant inheritance

• Two different versions

(alleles) of a gene can be
expressed, and each
version makes a slightly
different protein
• Both alleles influence the
genetic trait or determine
the characteristics of the
genetic condition.
• E.g. ABO locus

18
 Medical Genetics (cont.)
Mitochondrial inheritance
• This type of inheritance
applies to genes in
mitochondrial DNA
• Mitochondrial disorders
can appear in every
generation of a family and
can affect both males and
females, but fathers do
not pass mitochondrial
traits to their children.
• E.g. Leber's hereditary
optic neuropathy (LHON)

19
 Notes
• DNA - a pair of molecules joined by hydrogen bonds: it is
organized as two complementary strands, head-to-toe, with
the hydrogen bonds between them. Each strand of DNA is a
chain of chemical "building blocks", called nucleotides, of
which there are four types:adenide (abbreviated A),
cytozyne (C), guanine (G) and thymine (T).

• Mitochondria, which are structures in each cell that convert

molecules into energy, each contain a small amount of DNA.

• A chromatid forms one part of a chromosome after it has

coalesced for the process of mitosis or meiosis. During
either process, the word "chromosome" indicates a pair of
two exactly identical ("sister") chromatids joined at the
central point of each chromatid, called the centromere.

20
 Notes -cont
• Mitosis is the process by which a cell separates
its duplicated genome into two identical halves
• Meiosis is the process that transforms one diploid
into four haploid cells.
• Reciprocal cross a cross, with the phenotype of
each sex reversed as compared with the original
cross, to test the role of parental sex on inheritance
pattern. A pair of crosses of the type genotype
A(female) X genotype B(male) and genotype
B(female) X genotype A(male).

21
 Question #1

1 2

• Write the genotypes in every possible place.

• If individuals 1 and 2 marry, what is the probability that
their first child will be sick?
22
 Question #2
• PKU is a human hereditary disease resulting from
inability of the body to process the chemical
phenylalanine (contained in protein that we eat).

• It is caused by a recessive allele with simple

Mendelian inheritance.

• Some couple wants to have children. The man has a

sister with PKU and the woman has a brother with
PKU. There are no other known cases in their
families.
• What is the probability that their first child
will have PKU ?
23
Question #2-Solution Highlights

P/p P/p P/p P/p

p/p -/P -/P p/p

P – the normal allele

p – the mutant allele

24
 Question #3
• The disease is rare.

1 2 3 4 5 6 7 8 9 10

a. What is the most likely mode of inheritance ?

b. What would be the outcomes of the cousin marriages

1 x 9, 1 x 4, 2 x 3, and 2 x 8 ?
25
 Question #3-Solution Highlights
a. Observations:
– After the disease is introduced into the family in generation
#2, it appears in every generation  dominant!
– Fathers do not transmit the phenotype to their sons 
X-linked!

b. The outcomes:
– 1 x 9: 1 must be A/a
9 must be A/Y
– 1 x 4: 1 must be A/a
4 must be a/Y
Same
– 2 x 3: 2 must be a/Y
3 must be A/a
– 2 x 8: 2 must be a/Y
All normal
8 must be a/a
26
 TANK YOU

DONE BY
DR. WISAM HABHAB
GENETICS RESIDENT