PEDIGREE SYMBOLS AND CHARTS

PEDIGREE
A French term ple de grue or cranes foot. DEFINITION: The basic medical pedigree is a graphic depiction of how family members are biologically and legally related to one another from one generation to the next. A pedigree is a diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships.

Uses of Pedigree
In known mode of inheritance -To predict the risk of recurrence. -Identifying the at risk individual. -Decide on testing strategy. Not known inheritance -Establish pattern of inheritance. Genetic counseling

PEDIGREE SYMBOLS

INDIVIDUALS

 PROBAND- The member through whom a family with genetic disorder is first brought to attention of the investigator. Also known as index case, propositus(if female), proposita(if male). CONSULTAND- the person who brings the family to attention by consulting a genecist. The person may be an affected individual or an unaffected relative of a proband.

PEDIGREE SYMBOLS

RELATIONSHIPS

PEDIGREE SYMBOLS

ASSISTED REPRODUCTIVE SCENARIOS

Better to follow
Draw male partner to the left. Each generation should be in the same horizontal plane. When possible draw siblings in birth order. If not possible,record age. and individual by Arabic.

Organising the pedigree chart

Generations are identified by Roman numerals
I

II

III

IV
2007 Paul Billiet ODWS

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
1

I
1

II
1 2 3 4 5 6

III
1 2 3 4 5

IV
2007 Paul Billiet ODWS

 Usually three generations. Extend back as far as possible if a health problem of significance is identified.

Common Terminology
Genome: A set of biological information.

Genotype: genetic constitution of an individual.

Phenotype: The observable characteristics of an individual. Dominant: expressed in heterozygote one allele present Recessive: expressed in homozygote two alleles necessary

Contd.
Pleiotropy: A single abnormal gene produces diverse phenotypic effects. Mutation: Any permanent heritable change in the sequence of genomic DNA. Exon: A transcribed region of a gene that is present in mature messenger RNA. Intron: A segment of a gene that is transcribed initially but removed from RNA transcript.

Contd.
Epigenetic: The factor that can affect the phenotype without change in a genotype. Gene: a sequence of DNA bases containing biologically useful information Allele: alternative form of a gene (a mutant?) Locus: specific position or location of a gene on a chromosome Heterogeneity: Similar phenotype determined by different genes.

Contd. Penetrance: Frequency of expression of genotype. Reduced Penetrance: The genotype which fails to express. Expressivity: The manifestation of phenotype differs in people who have same genotype .

Pedigree

New Mutation

Quasidominant (A/a X a/a)

A/a a/a

A/a

A/a

a/a

a/a

A/A

A/a

A/a

A/a

A/a

{A/a

Typical pedigree of AR

A/a

A/a

A/A

A/a

a/A

a/a

Pedigree of XD
I II III IV

Pedigree of XR disorders I II III

IV

Always draw
First degree- parents, siblings, children Second degree-Grand parents,, uncles, aunts, nephews, nieces and grand children. Third degree- first cousins ( can just mention the number) . Fourth degree- first cousins once removed