Hyperparathyroidism-jaw tumor syndrome: the HRPT2 (ital) locus is within a 0.7-cM region on chromosome 1q

Article Abstract:

Hyperparathyroidism-jaw tumor syndrome (HPT-JT), an autosomal dominant disease, the gene for which, HRPT2 (ital) maps to chromosome 1q25-q31, has been investigated in four families for linkage with 21 new closely linked markers. A 0.7-cM candidate region on chromosome 1q has been proposed for HRPT2 (ital) based on linkage and shared-haplotype data. HPT-JT is characterized by presence of multiple parathyroid adenomas and multiple fibro-osseous tumors of the maxilla and mandible, and some families report kidney problems.

Canada, Stomatognathic system, Hyperparathyroidism, Jaws, Jaw

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Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

Article Abstract:

Darier disease (DD), an autosomal dominant skin disorder involving loss of adhesion between epidermal cells and abnormal keratinization, has been studied in four families. Linkage analysis has shown key recombination events to refine the DD locus to a <1-cM region on chromosome 1212q23-24.1. A complete, high-resolution YAC/P1 artificial chromosome (PAC)/bacterial artificial chromosome (BAC) physical map that takes in the refined DD critical region has been constructed.

United Kingdom, Hungary, Skin, Cell adhesion, Skin abnormalities, Keratinization

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