The Ashkenazic Jewish Bloom syndrome mutation blm (super.Ash)(ital) is present in non-Jewish Americans of Spanish ancestry

Article Abstract:

The presence of the Ashkenazic Jewish Bloom syndrome (BS) mutation in Christian Americans of Spanish ancestry is discussed. In 91 unrelated non-Ashkenazics with BS examined, the mutation was found in only 5, but it is found on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS, in a demonstration of migration and genetic drift in human population formation. BS is a rare autosomal recessive disorder which brings short stature, immunodeficiency, sun-sensitive facial erythema.

Spain, Mexico, Morocco, El Salvador, Ecuador, History, Gene mutations, Gene mutation, Jews, Latin Americans, Disease transmission, Population genetics, Emigration and immigration, Ashkenazim, Spanish history, Sephardim, New Spain

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Autosomal dominant nanophthalmos (NNO1 (ital)) with high hyperopia and angle-closure glaucoma maps to chromosome 11

Article Abstract:

Mapping to chromosome 11 of autosomal dominant nanophthalmos (NNO1 (ital)) with high hyperopia and angle-closure glaucoma is discussed. This developmental ocular disorder, for which ocular examinations of 22 affected members of a large family were done, is uncommon and involves a small eye, in terms of axial length, high hyperopia, high incidence of angle-closure glaucoma and a high lens/eye volume ratio.

Abnormalities, Eye, Eye abnormalities, Angle-closure glaucoma, Narrow-angle glaucoma

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