Carrier Probability Calculator

Calculate the probability that an unaffected individual is a carrier (Aa) for a recessive genetic disorder based on maternal and paternal family history.

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Pedigree & Family History

Select the family history parameters for the mother's and father's sides.

General Population Settings

Default 4% is typical for Cystic Fibrosis in Caucasian populations.

Mother's Family History

Father's Family History

Child Probabilities

If Child is Unaffected / Healthy

Carrier Probability (Aa) -
Non-Carrier Genotype (AA) -

General Risk (Before Knowing Health Status)

Risk of being affected (aa) -
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2/3 Carrier Rule

Unaffected siblings of affected individuals have a 2/3 (66.7%) chance of being carriers because the affected aa genotype is excluded.

Pedigree Relationship Carrier Risk Reference Table

Relationship to Affected Individual Parent Genotype Assumptions Prior Probability Carrier Risk (Aa)
Child of Affected Parent (aa) aa × AA/Aa 100% 100% (Obligate Carrier)
Unaffected Sibling of Affected Person Aa × Aa 2/4 2/3 (66.7%)
Niece / Nephew of Affected Person Aa (2/3) × Pop 2/3 × 1/2 1/3 (33.3%)
First Cousin of Affected Person Aa (1/3) × Pop 1/3 × 1/2 1/6 (16.7%)

Calculation Methodology & Biological Principles

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Conditional Probability Formula

For healthy individuals, we exclude the recessive disease outcome (aa):

P(Aa | unaffected) = P(Aa) / [P(AA) + P(Aa)]
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Hardy-Weinberg Integration

When a spouse has no known family history of a disorder, their prior carrier probability is estimated using the general population carrier frequency (2pq).

Frequently Asked Questions

What is a Genetic Carrier?

A carrier is an individual who inherits one recessive allele for a genetic disorder (Aa) without displaying symptoms. They can pass the recessive allele to their children.

Why is an unaffected sibling's carrier probability 2/3 instead of 1/2?

If a sibling has an autosomal recessive disorder (aa), both parents must be carriers (Aa x Aa). A standard cross yields 1 AA : 2 Aa : 1 aa. If the individual is known to be healthy, the affected aa outcome is ruled out, leaving 2 carriers out of 3 healthy outcomes (2/3 or ~66.7%).

How does Bayes' Theorem apply to carrier risk assessment?

Bayes' theorem incorporates clinical observations (such as an individual or ancestor being unaffected) to update prior genetic probabilities into conditional posterior probabilities.

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