For first cousins in an otherwise outbred pedigree, compare the copies transmitted from their related parents, who are full siblings. These transmissions trace to the same shared grandparent with probability and then to the same homologous copy of that grandparent with probability , giving . The unrelated parental contributions cannot match, so two shared copies have probability zero. Selecting one random copy from each cousin chooses those two potentially shared copies with probability , giving kinship coefficient .
For an otherwise outbred pedigree, each of the two shared grandparents contributes to the kinship coefficient of first cousins. Thus their child has inbreeding coefficient . Equivalently, cousin kinship is one quarter of the kinship of their sibling parents.
// Target: biology.bigb
In an outbred pedigree, the two full siblings receive the same paternal copy with probability , and independently the same maternal copy with probability . Thus the number of shared copies has a binomial distribution with probabilities , and .
// Target: biology.bigb
For full siblings in an outbred pedigree, Mendelian IBD sharing of full siblings gives prior sharing probabilities for . Let be the event that both siblings are affected. Bayes' rule weights those probabilities by the pair penetrances, giving immediately
To obtain the one-shared-copy probability, assign each allele a risk multiplier , equal to with probability and with probability . Then and . With , write the siblings' penetrances as and , where the shared multiplier and the two unshared multipliers are independent. Conditional independence of the disease outcomes gives
The total pair probability is therefore , and the three ascertained sharing probabilities are
In particular,
The one-IBD proportion is below one half for a polymorphic locus with a genuine penetrance effect. Equality holds when , namely when or ; there is then no variation in the allele risk multiplier. The inequality follows from the different ascertainment weights for zero, one and two shared copies, rather than from applying the unascertained sibling probabilities to affected pairs. This is sibling IBD ascertainment under multiplicative penetrance. All affected-pair conditional probabilities presume ; if disease never occurs, conditioning on affected pairs is undefined.
Label the two paternal ancestral marker copies and the two maternal copies . Treat these as four distinct ancestral copies in an outbred pedigree; equal observed alleles need not imply identity by descent. By Mendelian segregation, each child independently receives either paternal copy with probability . Thus the indicator that the two full siblings inherit the same paternal copy satisfies
The same argument gives for the maternal copy. Paternal and maternal meioses are independent, so and are independent. Consequently the number of copies shared identical by descent has a binomial distribution, giving
This is Mendelian IBD sharing of full siblings. It describes an ordinary, unselected sib pair: conditioning on a shared disease phenotype can change the distribution if there is genetic linkage to its causal locus.
The kinship coefficient is the probability that a randomly selected allele copy from individual and an independently selected copy from individual at the same genetic locus are identical by descent. The sampling is of gene copies, not of whole genotypes. For a noninbred individual , sampling its two copies with replacement gives ; in general , where is its inbreeding coefficient.
For two full siblings in an outbred pedigree, the two sampled copies are both paternal with probability , both maternal with probability , and of different parental origin with probability . Given that both are paternal, their independent Mendelian segregation transmissions select the same paternal ancestral copy with probability ; likewise for both maternal. The different-parent case cannot be identical by descent when the parents are unrelated. Therefore
Equivalently, conditional on an IBD-sharing count , the chance that the two random copies match is , so . The expected shared proportion and the usual additive relationship coefficient are twice this kinship coefficient; confusing these conventions would double the subsequent inbreeding coefficient.
Let the first cousins be , with parents and respectively, where are full siblings and have no ancestral relationship to one another or to that sibling family. To compute , choose one allele copy from each cousin. They originate from and with probability . All other parental combinations have zero kinship coefficient under the otherwise outbred pedigree assumption. Hence
The two gene copies within a child of are random transmissions from these parents. They are identical by descent precisely in the event defining parental kinship, so the child's inbreeding coefficient is
For a direct ancestral-path check, there are two shared noninbred grandparents. Through either grandparent, the two cousin-to-grandparent paths have two meioses each, and matching the ancestral grandparental copy supplies a further factor . Each contributes , giving the same first-cousin inbreeding coefficient. Additional ancestral relationships or inbred grandparents would change the result.
For full siblings in an outbred pedigree, condition on both being affected under multiplicative diallelic penetrance and on residual disease outcomes being independent given their genotypes. The usual Mendelian IBD sharing of full siblings probabilities are weighted by , respectively, giving the displayed conditional sharing probabilities. Since , , strictly for a polymorphic locus with a nontrivial effect.