Take “cousins” to mean first cousins with unrelated, outbred founders and unrelated spouses in the intervening generation. Interpret a homozygous chromosome as two copies identical by descent, and first use an idealization of independent, nonrecombining chromosome blocks. Ordinary sequence homozygosity is a different quantity: unrelated copies can have the same allele, so its probability also requires allele frequencies. Similarly, identity of an entire recombining chromosome requires a genetic map, not just a pedigree.
At a single autosomal locus, the probability of autozygosity in their child is the parents' kinship coefficient. Each of the two common grandparents contributes a path of length two from each parent, with probability . Thus the first-cousin inbreeding coefficient is
If there are independent autosomal blocks, the probability that none is autozygous is . Hence the usual 23-block idealization gives
The exponent describes the stated independent-block approximation; it is not a claim that all 23 human chromosome pairs inherit like autosomes.
Humans have 22 autosomal pairs. A son has one X and one Y and cannot have two homologous X copies. A daughter can have an autozygous X, with probability determined by the sex-linked cousin kinship calculation in part (b). Thus a sex-aware version is
where is the probability of a daughter, or is one or zero for a specified daughter's or son's sex. The independent assortment approximation applies between the autosomes and the X. Opposite-sex parentage alone does not determine : the parents may be cousins through their mothers, their fathers or one of each. Without these pedigree and chromosome-block assumptions, the wording does not specify a unique probability of an entire homozygous human chromosome.
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.
Assume a single disease allele , complete penetrance of , no disease in or , and Hardy-Weinberg equilibrium in the outbred population. If its population frequency is , the disease prevalence is , so .
For a child with inbreeding coefficient , the two inherited copies are identical by descent with probability . In that component there is just one ancestral allele draw, and it is with probability . In the remaining component there are two independent ancestral draws, with probability of . Thus the inbreeding genotype frequencies give
Using the first-cousin inbreeding coefficient , the disease-risk ratio is
The absolute risk in this model is . This calculation averages over the parental genotypes in first-cousin marriages before observing an affected child. It is not the risk conditional on both parents being known genetic carriers, and assumes the specified cousin relationship is independent of disease status rather than conditioning on a selected disease pedigree.