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.

๐Ÿ“‹

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) -
๐Ÿ’ก

Expert Tip

When calculate probabilities for an existing healthy individual, we exclude the "affected" genotype (aa) from the possible outcomes, which changes the divisor (e.g. carrier probability for a sibling becomes 2/3 instead of 2/4).

Methodology & Equations

๐Ÿ“

Conditional Probability (Bayes' Theorem)

For autosomal recessive conditions, if a child is born healthy, they cannot have the genotype aa.

Given raw probabilities P(AA), P(Aa), and P(aa) from the parental cross, the conditional carrier probability is:

P(Aa | healthy) = P(Aa) / [P(AA) + P(Aa)]
This shifts a standard 2/4 carrier probability to 2/3.

๐Ÿงฌ

Standard Pedigree Values

- **Sibling affected:** Parents must be carriers. Child has 2/3 probability of being a carrier.
- **Parent affected:** Parent is aa. Unaffected child has 100% probability of being a carrier.
- **Aunt/Uncle affected:** Grandparents are carriers. Parent has 2/3 chance. The child's chance is 2/3 × 1/2 = 1/3.

Calculating Pedigree Carrier Risk: Step-by-Step

Here is a step-by-step example where the Mother's sibling is affected (carrier prob 2/3) and the Father has no family history (general population rate 4%):

1

Determine Parent Genotype Probabilities

- Mother: P(Aa) = 2/3 ≈ 66.7%, P(AA) = 1/3 ≈ 33.3%
- Father: P(Aa) = 4% = 0.04, P(AA) = 96% = 0.96

2

Sum Genotype Frequencies

- Praw(Aa) = P(M)Aa × P(F)AA × 0.5 + P(M)AA × P(F)Aa × 0.5 + P(M)Aa × P(F)Aa × 0.5
- Praw(Aa) = (2/3 × 0.96 × 0.5) + (1/3 × 0.04 × 0.5) + (2/3 × 0.04 × 0.5) ≈ 0.32 + 0.0067 + 0.0133 = 0.34 (or exactly 34%).
- Praw(aa) = P(M)Aa × P(F)Aa × 0.25 = (2/3 × 0.04 × 0.25) ≈ 0.67%.
- Praw(AA) ≈ 65.33%.

3

Calculate Conditional Carrier Rate

If the child is healthy, exclude the 0.67% disease risk:

P(Aa | healthy) = 34% / (65.33% + 34%) ≈ 34.2%

Related Calculators

View All Biology Tools →