Pedigree Charts Introduction 2017

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PEDIGREE

PEDIGREE CHARTS
CHARTS
A family history of a genetic
condition
Quick Review
• Genotype = what genes someone has
• Genes are usually represented by a letter,
a capital letter for the dominant trait, a
small case for the recessive.

• Example: Tongue Rolling is dominant, so


we use R to represent the tongue rolling
• Inablility to roll your tongue is recessive so
we use r to represent the non-rolling gene
• For every trait, you get a gene from each
parent
Genotypes and
Phenotypes
• Mom and Dad are Rr-that is
their genotype, they can
also be described as
heterozygous-they have 1
of each gene

• What is their PHENOTYPE?


(Roller or non-roller?)

• The youngest son has a


genotype of rr-he is
Homozygous recessive-2
copies of the recessive gene

• His phenotype?
What is a pedigree
chart?
• Pedigree charts show a record of the
family of an individual
• They can be used to study the
transmission of a hereditary condition
• They are particularly useful when there
are large families and a good family
record over several generations.
Studying human genetics
• Pedigree charts offer an ethical way of studying human
genetics

• Today genetic engineering has new tools to offer to


doctors studying genetic diseases

• A genetic counsellor will still use pedigree charts to help


determine
• the distribution of a disease in an
affected family
Symbols used in
pedigree charts
A marriage with five children, two
Normal male daughters and three sons. The
Affected male next to eldest son is affected by
the condition.

Normal female
Affected female
Marriage

Eldest child  Youngest child


Symbols
• Shaded
individuals have
the trait you’re
studying
• Boys = squares
• Girls = circles
• Married-connected at
side
• Siblings-connected at
TOP not at the side
• Oldest child-to the left

• Question-if shaded
individuals in this
pedigree have blue
eyes, what is the
GENOTYPE of the
parents?
Other Symbols

• Divorced,
separated
• Deceased
• Identical twins
• Fraternal twins
Organising the
pedigree chart
• A pedigree chart of a family showing 20
individuals
Organising the
pedigree chart
– Generations are identified by Roman numerals

II

III

IV
Organising the
pedigree chart
• Individuals in each generation are identified by
Arabic numerals numbered from the left
• Therefore the affected individuals are II3, IV2 and IV3

II
1 2 3 4 5 6 7

III

IV
What’s Going On?
Shaded = Blue Eyes
• 1 and 2 split after
having 4, 2 then had
kids with 3 and split
with her too after 5-9
were born

• Genotypes of 1, 4,7?
• Genotypes of 2 & 3?
• Genotypes of 5,6, 8, 9,
10, 11, 12?
Time to Practice…

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