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Pedigree

A pedigree is a diagram that illustrates familial relationships and the inheritance of traits across generations. It uses specific symbols to represent males, females, affected individuals, and relationships, while also incorporating genetic terminology such as genotype and phenotype. Common traits and disorders traced through pedigrees include Huntington's Disease, Cystic Fibrosis, and various physical traits like dimples and earlobe attachment.

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Jeric Gabuya
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3 views

Pedigree

A pedigree is a diagram that illustrates familial relationships and the inheritance of traits across generations. It uses specific symbols to represent males, females, affected individuals, and relationships, while also incorporating genetic terminology such as genotype and phenotype. Common traits and disorders traced through pedigrees include Huntington's Disease, Cystic Fibrosis, and various physical traits like dimples and earlobe attachment.

Uploaded by

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

• A pedigree is a family tree that describes the interrelationships of parents and


children across generations
• Inheritance patterns of particular traits can be traced and described using
pedigrees

I. Male (square) vs female (circle)


II. Affected (shaded) vs unaffected (unshaded) individual
III. Marriage/mating line (line connecting mates) vs. sibship line (line connecting siblings)
IV. Fraternal twins (one birthline branching out into the individual twin) vs. identical twins
(same as fraternal twins but with a horizontal bar connecting the branches)
V. Generation (Roman numerals) vs. individuals in the same generation, counting left to
right (designated by Hindu Arabic numerals)

Relevant vocabulary:
• Pedigree - making use of diagrams showing the ancestral relationships and
transmission of genetic traits over several generations in a family
• Proband - The first individual in a family to be identified as possibly having a genetic
disorder or condition.
• Genotype - the gene pair an individual carries for a particular trait symbolized with a
pair of letters.
i. Homozygous dominant
ii. Heterozygous
iii. Homozygous recessive
• Phenotype - the observable trait
May either be:
i. Dominant. A trait that requires at least one dominant allele for the trait to be
expressed
ii. Recessive. A trait that requires two recessive alleles for the trait to be
• Autosomal trait - a trait whose alleles that control it are found in the autosomes
• Sex-linked trait - a trait in which a gene is located on a sex chromosome
Example: hemophilia (x-linked), red-green color blindness (x-linked)
• Identical twins - also known as monozygotic twins, which are derived from a single
fertilization event. After the first cleavage or cell division of the zygote, the cells or
blastomeres separate and become independent blastocysts implanted in the
mother’s uterus.
• Fraternal twins - twins that are derived from separate fertilization events (two eggs
fertilized by two sperms) within the fallopian tube, resulting in two separate zygotes;
also known as dizygotic twins.
• Phenocopy - a trait that is expressed due to specific environmental conditions (i.e.
having hair that is dyed of a different color) and is not due to the genotype.

Traits/Disorders Commonly Traced Through Pedigree Charts


• Widow’s Peak
• Free or Attached Earlobes
• Tongue Rolling
• Hitchhiker’s Thumb
• Cleft Chin
• Dimples
• Freckles
• Huntington’s Disease
• Marfan Syndrome
• Achondroplasia (Dwarfism)
• Polycystic Kidney Disease
• Familial Hypercholesterolemia
• Cystic Fibrosis
• Sickle Cell Anemia
• Albinism

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