By Jeffrey H. Miller
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Additional resources for An Introduction to Genetic Analysis
In all cases, one parental phenotype disappeared in the F1 and reappeared in one-fourth of the F2. Mendel went on to thoroughly test the class of F individuals showing the dominant phenotype. He found (apparently unexpectedly) that there were in fact two genetically distinct subclasses. In this case, he was working with the two phenotypes of seed color. In peas, the color of the seed is determined by the genetic constitution of the seed itself, not by the maternal parent as in some plant species.
In pedigree analysis, the main clues for identifying an autosomal dominant disorder with Mendelian inheritance are that the phenotype tends to appear in every generation of the pedigree and that affected fathers and mothers transmit the phenotype to both sons and daughters. Again, the equal representation of both sexes among the affected offspring rules out inheritance via the sex chromosomes. The phenotype appears in every generation because generally the abnormal allele carried by a person must have come from a parent in the preceding generation.
For this situation, we will separate the genes with a dot — for example, A/a и B/b. A double heterozygote such as A/a и B/b is also known as a dihybrid. From studying dihybrid crosses (A/a и B/b ϫ A/a и B/b), Mendel came up with another important principle of heredity. The two specific characters that he began working with were seed shape and seed color. We have already followed the monohybrid cross for seed color (Y/y ϫ Y/y), which gave a progeny ratio of 3 yellow : 1 green. The seed-shape phenotypes (Figure 2-9) were round (determined by allele R) and wrinkled (determined by allele r).