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One way to examine a pattern of inheritance is to draw a family tree. Figure 5.18 de nes the symbols used in con-
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structing a family tree, or pedigree. The circles represent females, and the squares represent males. Symbols that are lled in represent individuals who have the trait under study; these individuals are said to be affected. The open symbols represent those who do not have the trait. Direct horizontal lines between two individuals (one male, one female) are called marriage lines. Children are attached to a marriage line by a vertical line. All the brothers and sisters (siblings or sibs) from the same parents are connected by a horizontal line above their symbols. Siblings are numbered below their symbols according to birth order ( g. 5.19), and generations are numbered on the right in Roman numerals. When the sex of a child is unknown, the symbol is diamond-shaped (e.g., the children of III-1 and III-2 in g. 5.19). A number within a symbol represents the number of siblings not separately listed. Individuals IV-7 and IV-8 in gure 5.19 are fraternal (dizygotic or nonidentical) twins: they originate from the same point. Individuals III-3 and III-4 are identical (monozygotic) twins: they originate from the same short vertical line. When other symbols occur in a pedigree, they are usually de ned in the legend. Individual V-5 in gure 5.19 is called a proband or propositus (female, proposita). The arrow pointing to individual V-5 indicates that the pedigree was ascertained through this individual, usually by a physician or clinical investigator. On the basis of the information in a pedigree, geneticists attempt to determine the mode of inheritance
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Tamarin: Principles of Genetics, Seventh Edition
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II. Mendelism and the Chromosomal Theory
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5. Sex Determination, Sex Linkage, and Pedigree Analysis
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Pedigree Analysis
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Bobbed Xbb Xbb
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Male Female Affected male Affected female Mating (marriage line) Parents Siblings 4
Identical twins
Fraternal twins
X+ Xbb Xbb X+ Wild-type
Y+ Xbb Y+ Wild-type
Sex unknown
Four sisters
Marriage among relatives
Xbb X+ F2 Xbb Xbb Xbb Bobbed Xbb X+ Wild-type
Y+ X+Y+ Wild-type Xbb Y+ Wild-type
Symbols used in a pedigree.
Reciprocal cross to that in gure 5.16.
of a trait. There are two types of questions the pedigree might be used to answer. First, are there patterns within the pedigree that are consistent with a particular mode of inheritance Second, are there patterns within the pedigree that are inconsistent with a particular mode of inheritance Often, it is not possible to determine the mode of inheritance of a particular trait with certainty. McKusick has reported that, as of 2001, the mode of inheritance of over nine thousand loci in human beings was known with some con dence, including autosomal dominant, autosomal recessive, and sex-linked genes.
sons. His sons receive his Y chromosome.) Consistency in many such pedigrees, has con rmed that an autosomal dominant gene causes polydactyly. Polydactyly shows variable penetrance and expressivity.The most extreme manifestation of the trait is an extra digit on each hand ( g. 5.20) and one or two extra toes on each foot. However, some individuals have only extra toes, some have extra ngers, and some have an asymmetrical distribution of digits such as six toes on one foot and seven on the other.
Recessive Inheritance
Figure 5.21 is a pedigree with a different pattern of inheritance. Here affected individuals are not found in each generation. The affected daughters, identical triplets, come from unaffected parents. They represent, in fact, the rst appearance of the trait in the pedigree. A telling point is that the parents of the triplets are rst cousins; a mating between relatives is referred to as consanguineous. If the degree of relatedness is closer than law permits, the union is called incestuous. In all states, brother-sister and mother-son marriages are forbidden; and in all states except Georgia, father-daughter marriages are forbidden. Georgia did not intend to permit father-daughter marriages. However, the law was drafted using biblical terminology that inadvertently did not prohibit a man from marrying his daughter or his grandmother. Thirty states prohibit the marriage of rst cousins. Consanguineous matings often produce offspring that have rare recessive, and often deleterious, traits. The reason is that through common ancestry (e.g., when rst cousins have a pair of grandparents in common), a rare allele can be passed on both sides of the pedigree and become homozygous in a child. The occurrence of a trait in a pedigree with common ancestry is often good evidence
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