Rh(sub.mod) syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene

Article Abstract:

Rh(sub.mod) syndrome is a genetic disorder that is thought to come from mutations at a modifier, but not at the suppressor underlying the regulator type of Rh(sub.null) disease. A study of the translation-initiator mutation in the Rh50 glycoprotein gene has been carried out in a Jewish consanguineous-background family. RHAG (ital) and RH (ital) have been analyzed. They are the two loci that control Rh-complex assembly and Rh-antigen expression. It seems that there is incomplete penetrance of the Rh(sub.mod) mutation, a leaky translation that leads to some posttranslational defects that affect interaction, structure and processing of Rh50 glycoprotein.

United States, Rh factor

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Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

Article Abstract:

The fourth locus (GLC1E) for adult-onset primary open-angle glaucoma has been localized to the 10p15-p14 region. A large British family with a classical form of normal-tension open-angle glaucoma was studied. Thirty-nine subjects, 16 of whom were affected, out of the 42 meioses genotyped had a haplotype that was compatible with the clinical categorization already made. The other 3 were in the unknown category.

United Kingdom, Open-angle glaucoma

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