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Formal Genetics of Man

  • Chapter
Human Genetics

Abstract

Mendel’s fundamental discoveries are usually summarized in three laws:

  1. 1.

    Crosses between organisms homozygous for two different alleles at one gene locus lead to genetically identical offspring (F1 generation), heterozygous for this allele. It of no importance which of the two homozygotes is male and which is female (law of uniformity and reciprocity). Such reciprocity applies only for genes not located on sex chromosomes.

  2. 2.

    When these F1 heterozygotes are crossed with each other (intercross), different genotypes segregate out: One-half is heterozygous again and one-quarter is homozygous for each of the parental types. This segregation 1:2:1 is repeated after crossing of heterozygotes in the following generations, whereas the two types of homozygotes breed pure. As noted above (Sect. 1.4), Mendel interpreted this result correctly, assuming formation of two types of germ cells with a 1:1 ratio in heterozygotes (law of segregation and law of purity of gametes).

  3. 3.

    When organisms differing in more than one gene pair are crossed, every single gene pair segregates independently and the resulting segregation ratios follow the statistical law of independent segregation (law of free combination of genes).

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  1. Institut für Anthropologie und Humangenetik, Im Neuenheimer Feld 328, 6900, Heidelberg, Germany

    Professor Dr. Friedrich Vogel

  2. Division of Medical Genetics, University of Washington, Seattle, WA, 98195, USA

    Arno G. Motulsky M. D. (Professor of Medicine and Genetics)

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Vogel, F., Motulsky, A.G. (1986). Formal Genetics of Man. In: Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02489-8_4

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