A pedigree, which is also called a genealogy, can be formally defined as “a group of individuals together with a full specification of all the relationships among them” (Thompson, 1986). Pedigrees can be shown graphically. One example of a pedigree is shown in Figure 2.3. By convention we use a square to denote a male and a circle to denote a female. Horizontal lines below couples are used to represent marriages. Parents and their children are linked through vertical lines. The individuals who are in the same level in the pedigree are in the same generation, often denoted by Roman numerals. Each person in each generation is labelled by Arabic numbers. Individuals with data e.g. those who are affected by a disease, are shown by shading. By convention, it is often assumed that every individual either has no parent specified in a pedigree (called a founder), or both parents specified (called a nonfounder). Closed circuits formed by lines and individuals are called loops in a pedigree and are often the result of inbreeding, multiple mating or marriage exchanges. A pedigree with loops is called looped pedigree. A looped pedigree is show in Figure 2.4. The loop is caused by the marriage of two individuals 12 and 13 who have a relationship of first cousin once removed. Generations are often not distinct in the presence of loops.
Figure 2.3 An example of an unlooped pedigree with 2 affected members.
Figure 2.4 An example of looped pedigree.
Pedigrees are often used to determine the mode of inheritance (e.g. dominant, recessive, etc.) of genetic diseases. They are also essential to linkage analysis.
Linkage analysis is the analysis of the linkage in the inheritance between genes at different loci based on the observational ph...
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...ypes of (A1A2, A2A2) are 0.5 for A1A2 and 0.5 for A2A2. We can simulate the genotype of the 3, 4, 5 and 6 by randomly assigning genotypes A1A2 and A2A2 to them according to their frequencies. The result is A2A2 for 3, A2A2 for 4, A1A2 for 5 and A1A2 for 6. We can simulate the genotypes of individuals 9 and10 based on the same frequencies. The resulting genotypes are A2A2 for 9, A1A2 for 10.
The genotypes of the parent of 11 are both A1A2 and the possibilities of 11’s genotype and frequencies are 0.25 for A1A1, 0.5 for A1A2 and 0.25 for A2A2. The simulated genotype for 11 based on these frequencies is A2A2.
We can summarize the simulated genotypes in Table 2.1 and show them on the pedigree in Figure 2.5.
Table 2.1 The simulated genotypes for the pedigree in Figure 2.5.
Individual 1 2 3 4 5 6 7 8 9 10 11
Genotype A2A2 A1A2 A2A2 A2A2 A1A2 A1A2 A1A2 A1A2 A2A2 A1A2 A2A2
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