Pedigree Analysis

TWO
SDK
December 15, 2014

Learning Objectives
Pattern of Inheritance
Define common terms used in genetic pedigree
What are the goals of pedigree analysis
What a genetic pedigree is
How to read a genetic pedigree
How to draw a human genetic pedigree

Pattern of inheritance
Pattern of inheritance is broken in to two major parts.
Classical mendelian

Autosomal
Dominant
Recessive

Sex(X)Linked
Dominant
Recessive

Non classical----------Mitochondrail

Terms

Trait characteristic of an organism

Gene a heredity unit that codes for a trait.
Allele different gene forms
Dominant the gene that is expressed (shown) whenever it is
present.
In this case one of the gene at one loci is defective and this will
disturb(decrease) the action of the other normal gene of the other
chromosome and brought upon abnormal phenotype.

Recessive the gene that is hidden. It is not expressed unless

a homozygous condition exists for the gene.
In this case also one of the gene at one loci is defective but
this will not disturb(decrease) the action of the other
normal gene of the other chromosome rather other gene
will function normally and give a normal phenotype
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Terms
In general the
Dominant Gene : Code for Structural protein
such as receptors, defect in one allele is enough
to produce disease
Recessive Gene: Code for Functional proteins
such as Enzymes .defect in one allele is do not
produce disease

Terms
Homozygous two identical (same) alleles for a
given trait (TT) also called purebred.
Heterozygous two different (opposite) alleles
for a given trait (Tt), also called hybrid.
Gamete sexual reproductive cell (sperm &
egg).
Fertilization the fusion of two gametes.
Phenotype physical trait of an organism.
Genotype the genes present in the cell.

Remember
Homozygous = AA or aa = purebred
Heterozygous = Aa = hybrid
Dominant = capital letter (A)
Recessive = lower case letter (a)
Genotype = alleles involved (AA, aa, or Aa)
Phenotype = trait expressed (blue or green)

Goals of Pedigree Analysis

1. Determine the mode of inheritance:
1.
2.
3.
4.
5.

Dominant
Recessive
Sex-linked
Autosomal
mitochondrial, maternal effect.

2. Determine the probability of an affected

offspring for a given cross.

Steps in Pedigree Analysis

1. Analyze whether the pedigree belongs to a
dominant or recessive group.
1. Dominant
a) Affected person must have affected parents
b) Every generation will be affected

2. Recessive
a) Parents will be not affected
b) There will be skip generations

Steps in Pedigree Analysis

1. Autosomal . Both boys and girls will be involved.

Dominant

Disease must be in multiple generation.

Disease person must have an affected parents.
Male & female are equally affected

Recessive

Disease have skip generation.

Disease person must not have an affected parents.
Because autosomes are involved , Male & female are equally affected

2. X-linked

Dominant

Affected male will transmit the character to all daughters but not to sons
Affected female will transmit the character to Half sons and Half daughters.

Recessive

No male to male transfer

Affected male will be more than female
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3. X-Linked Recessive Inheritance

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X-Linked Recessive
More males
than Genotype
females are affected Normal Father's Genotype
Affected Father's
Affected sons are usually born to unaffected mothers,
X
Y
X
Y
thus the trait
skips generations
Approximately
1/2XYof carrier mothers
sons
X
XX
X
X X are affected
XY
Normal
Carrier

It
is
never
passed
from
father
to son
Mother's
Mother's
Genotype
Genotype are carriers
All Xdaughters
of affected
fathers
XX
XY
X
XX
XY
a

All daughters carriers,

all sons normal.

Half of sons affected, half of daughters carriers.

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X-Linked Recessive Trait

Lesch-Nyhan Syndrome
Duchene Muscular
Dystrophy
Glucose 6 Phosphate
Dehydrogenase Deficiency
Hemophilia A and B

Fabry's Disease
Bruton's Aggamaglobulinemia
Color Blindness
Complete Androgen Insensitivity
Congenital Aqueductal stenosis
(hydrocephalus)
Inherited Nephrogenic Diabetes
Insipidus

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X-Linked Recessive Trait

Characteristics of an X-linked recessive trait
include:
More affected males than affected females
No male to male transmission
Male transmission through female

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4. X-Linked Dominant Inheritance

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X-Linked Dominant
Both males and females are affected; often more females than
males are affected
Does not skip generations.
Affected sons must have an affected mother; affected
daughters must have either an affected mother or an affected
father
Affected fathers will pass the trait on to all their daughters
Affected mothers if heterozygous will pass the trait on to 1/2
of their sons and 1/2 of their daughters

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X-Linked Dominant Inheritance

Affected males transmit the trait to all of their

daughters and none of their sons.
Affected females transmit the trait to half of
their sons and half of their daughters.

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X-Linked Dominant Inheritance

Affected males transmit the trait to all of

their daughters and none of their sons.

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X-Linked Dominant Inheritance

X Linked Hypophosphotemic Rickets.
Focal Dermal Hypoplasia,
Orofaciodigital syndrome.

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Y-Linked Dominant
Only males are affected
It is passed from father to all sons
It does not skip generations

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Y-Linked Inheritance

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Mitochondrial Genes
Trait is inherited from mother only
All children of a mother are at risk to be affected or
carriers.
About 20,000 genes in the human genome are located in
small compartments in the cell called the mitochondria.
Why Mitochondrial Genes Are Needed ??

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Mitochondrial Genes
The genes found within the mitochondria contain the information that codes
for the production of many of the important enzymes that drive the
biochemical reactions to produce the bodys source of energy(ATP).
The cells in the body, especially in organs such as the brain, heart, muscle,
kidneys and liver, cannot function normally unless they are receiving a
constant supply of energy (ATP)
Faulty mitochondrial genes can result in absence of these enzymes, or
enzymes that are impaired and do not work properly.
This leads to a reduction in the supply of ATP, and may result in problems
with the bodys functions .

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Mitochondrial Genes
The pattern of inheritance of conditions due to faulty mitochondrial genes is
often called maternal inheritance.
This is because a child inherits the great majority of their mitochondria from
their mother through the ova.
Usually a mother will have a mixture of mitochondria containing the
working gene copy and others containing the faulty gene.
For a condition to develop, the number of mitochondria with the faulty gene
must be above a critical level (the threshold). Such as

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Mitochondrial Genes
Mitochondria are only
inherited from the mother.
If a female has a
mitochondrial trait, all of her
offspring inherit it.
If a male has a mitochondrial
trait, none of his offspring
inherit it.
If the mother is not affected
but has the faulty genes, than
Disease will occur depending
up on the levels of faulty
genes.
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Mitochondrial Genes

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Thank You

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