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Autozygosity is homozygosity by descent: the maternal and paternal copies in one individual derive from the same ancestral copy. Unlike ordinary homozygosity, it concerns the ancestry of chromosome copies rather than only their observed states. In a pedigree with one ancestral disease-allele copy and fully penetrant recessive inheritance, every affected individual is autozygous for that copy.

A founder is an individual whose parents are outside the recorded pedigree. The standard pedigree likelihood assigns unrelated founders independent genotype distributions based on population allele or haplotype frequencies. If founders are related, their joint prior must instead account for that relationship.

Why can two individually fair allele transmissions fail to be independent? Genetic loci on the same chromosome can travel together through meiosis. This tendency is genetic linkage; in an ordinary two-locus model, detectable genetic linkage means a recombination fraction below $1/2$. A genetic marker can therefore help track a neighboring genetic locus through a pedigree. See Clark, Douglas and Choi, Biology 2e: chromosomal theory and genetic linkage.

Take a diploid individual heterozygous at two genetic loci, with phase-known genotype $AB/ab$: one homologous chromosome carries alleles $A,B$, the other $a,b$. The parental haplotypes are $AB,ab$; the recombinant haplotypes are $Ab,aB$. Assume fair Mendelian segregation, equal probabilities within each reciprocal pair of gametes, and no allele-dependent differences in gamete recovery. If the recombination fraction is $r=0.2$, the gamete probabilities are $0.4,0.4,0.1,0.1$ in that order. Each genetic locus still transmits its two alleles equally, but $P(AB)=0.4$ exceeds $P(A)P(B)=0.25$: fairness at each genetic locus does not imply independence between genetic loci.

At $r=0$, only the parental haplotypes occur, each with probability $0.5$: this is complete genetic linkage. At $r=0.5$, all four haplotypes have probability $0.25$, giving independent assortment. A recombination fraction near $0.5$ alone cannot establish whether the genetic loci lie on different chromosomes or far apart on one chromosome.

Genetic linkage concerns joint transmission through meiosis. Linkage disequilibrium concerns haplotype frequencies in a population, while genetic association compares allele or genotype frequencies with a phenotype. These questions require different observations; pedigrees directly reveal co-transmission.

Genetics studies how genes are inherited, how their alleles vary, and how that variation contributes to phenotypes. Its central distinction is between an inherited description, the genotype, and what an organism actually expresses, the phenotype. Following alleles through a pedigree answers a family-level question; following allele frequencies through generations leads to population genetics and evolution.

The beauty of Mendelian segregation is that discrete inherited copies can generate predictable statistical patterns without making every offspring identical. A single genetic locus already connects meiosis, probability and observable variation. The Hardy-Weinberg principle then supplies a population baseline: it separates reshuffling inherited copies from processes such as natural selection that change their frequencies. These simple models are useful precisely because their assumptions can be stated and checked.

Haplotype estimation reconstructs which alleles share a chromosome from observed genotypes and other information, such as pedigrees. A doubly heterozygous genotype can be $AB/ab$ or $Ab/aB$; a phase-known genotype distinguishes them. Uncertainty in that reconstruction must propagate to estimated haplotype frequencies and linkage disequilibrium.

Nonparametric linkage analysis tests excess identity by descent among relatives with a shared phenotype, without specifying its complete penetrance model or disease-allele frequency. Its null still uses Mendelian segregation and the specified pedigree.

// Target: biology.bigb

Assign one genotype random variable to each person in a pedigree. Independent founders in a pedigree carry population genotype laws, and each other genotype has its conditional distribution given its two parents from Mendelian segregation. The ancestry Directed acyclic graph is a Bayesian network for the joint genotype law. Its moral graph contains each parent-child edge and each coparent edge. Each founder factor and each child-with-parents factor belongs to a clique, giving an undirected graphical representation. The graph is an independence representation; equality with the minimal conditional independence graph needs additional faithfulness assumptions, particularly because inheritance can produce zero probabilities.