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A probable case of cytoplasmic inheritance in man: A critique of leber’s disease

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Conclusion

The cause of Leber’s disease probably lies in abnormal cytoplasm, inheritance being therefore maternal (Lossen’s law). The abnormal cytoplasm continues in the egg of the affected pedigrees from generation to generation, so that all females are carriers of the disease (Kitashima’s law). The disease, in its attack, is stimulated by a sex hormone, especially that secreted by the male. The frequency distribution of the disease therefore differs in the two sexes. In some European, and in the majority of Japanese pedigrees, the proportion of females affected is higher than in the ordinary case, due probably to the higher sensibility of the cytoplasm carried by the particular pedigrees to stimulation of the female hormone, so that transmission of the disease is a case of sex-controlled inheritance. The Chinese case reported by Yang has a different cause, being due to an autosomal dominant gene.

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Imai, Y., Moriwaki, D. A probable case of cytoplasmic inheritance in man: A critique of leber’s disease. Journ. of Genetics 33, 163–167 (1936). https://doi.org/10.1007/BF02982530

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