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Pedigree Lecture

Pedigree analysis involves constructing family trees to visualize patterns of inheritance and assess risk for genetic conditions. Standard pedigree symbols represent individuals' gender, genetic status, vital status, and family relationships. Pedigrees should include at least 3 generations and provide identifying information, dates, causes of death or health conditions. Different patterns of inheritance, such as autosomal dominant or recessive and X-linked, result in distinctive pedigree presentations that can help determine the mode of inheritance for a genetic trait or disorder.

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74 views18 pages

Pedigree Lecture

Pedigree analysis involves constructing family trees to visualize patterns of inheritance and assess risk for genetic conditions. Standard pedigree symbols represent individuals' gender, genetic status, vital status, and family relationships. Pedigrees should include at least 3 generations and provide identifying information, dates, causes of death or health conditions. Different patterns of inheritance, such as autosomal dominant or recessive and X-linked, result in distinctive pedigree presentations that can help determine the mode of inheritance for a genetic trait or disorder.

Uploaded by

Shiv
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
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Pedigree Analysis

Pedigree symbols

Female 3

Male n

Gender P
unknown
Deceased
 Stillborn
SB

 Spontaneous
abortion/Miscarriage

 Termination of pregnancy
elective reasons

 Termination of pregnancy
genetic/affected condition
 Affected individual

 Proband
• 1st person in family to
come to medical/genetic
attention

 Obligate carrier

 Infertility
Constructing the Pedigree
 Relationship or
marriage
 Break in
relationship

 Consanguineous
relationship
 Monozygotic
twins
• (Identical)

 Dizygotic twins
• (Fraternal)
 Adoption
into a family

 Adoption out
of a family
 Include below
I. gender symbol
name, maiden name
John Smith
if married &
10-1-49 birthdate or age
 Generations are
symbolized by
Roman numerals
Current date:  Should give current
08-31-06 date on pedigree
Other Abbreviations
 d. 79y  Died at 79 years of
age
 dx. 41y
 Diagnosed at 41 years
of age
 Siblings are
drawn left to
I.
right in birth
order

II.

III.
Rules of Thumb
 Always include a key
 At least 3 generations
 Use birth dates or ages
 Sign and date
 Include ancestry with oldest generations
 Causes of
52 death or health
problems
should be
noted on the
pedigree or
Key explained by a
Hypertension key

Breast cancer
Autosomal Dominant Inheritance
 Each affected individual has one affected
parent
 Males and females may be affected
 Pattern of inheritance is vertical (passed
from generation to generation)
 Autosomal
Dominant
I.
Inheritance

II.

III.
Autosomal Recessive Inhertance
 Do not need a parent who is affected; each
parent must be a carrier of the recessive
gene
 Males and females may be affected
 Pattern of inheritance is horizontal (usually
seen in siblings)
 Offspring of parent with the condition are
obligate carriers
 Autosomal
Recessive
I.
Inheritance

II.

III.
X-Linked Inhertance
 Gene is located on X chromosome
 Female is usually clinically normal and
disorders are typically seen more often in
males than females
 Absence of male-to-male transmission
 X-Linked
Inheritance
I.

II.

III.

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