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[Heredity of granular corneal dystrophy (Groenouw I)].

Cuendet Jf, A Beuret-Niedzielsky, L. Zografos

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Abstract

Up-to date settlement, after 34 years, of a huge pedigree of 1391 individuals of which 77 were affected. The dominant autosomal mode of inheritance is confirmed. Nevertheless, discovery of an incomplete penetrance. The offspring of two affected individuals suggest that the heterozygotes and the affected homozygotes are identical. So an intermediate mode of inheritance would be excluded.

About this research paper

What this paper is about

Up-to date settlement, after 34 years, of a huge pedigree of 1391 individuals of which 77 were affected. The dominant autosomal mode of inheritance is confirmed. Nevertheless, discovery of an incomplete penetrance. The offspring of two affected individuals suggest that the heterozygotes and the affected homozygotes are identical. So an intermediate mode of inheritance would be excluded.

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Method / approach

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Available abstract

Up-to date settlement, after 34 years, of a huge pedigree of 1391 individuals of which 77 were affected. The dominant autosomal mode of inheritance is confirmed. Nevertheless, discovery of an incomplete penetrance. The offspring of two affected individuals suggest that the heterozygotes and the affected homozygotes are identical. So an intermediate mode of inheritance would be excluded.

Key concepts: Penetrance, Inheritance (genetic algorithm), Heredity, Genetics, Offspring, Heterozygote advantage, Biology, Evolutionary biology

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[Heredity of granular corneal dystrophy (Groenouw I)]. — Research Paper | ScholarLens