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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
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