Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3.

Journal article

A hybrid panel was used to refine the localizations of eight established markers useful for the diagnosis of Wilson disease. Two of the markers, D13S59 and D13S31, that map very close to the Wilson disease locus (WND) were localized to the region 13q14.2-->q14.3. We report the isolation of seven new probes from this region, using two different approaches. First, 16 clones from a chromosome 13-specific library were mapped using the hybrid panel. Three of the clones mapped to 13q14.2-->q14.3. As a second approach, Alu element-mediated PCR (Alu-PCR) was used to generate clones from a hybrid (ICD) that contains the proximal half of chromosome 13 as the only human component. To select for those that potentially mapped within the region 13q14.2-->q14.3, the clones were screened by differential hybridization using the labeled Alu-PCR products from a hybrid (KSF39) that is similar to ICD but has a deletion in the region 13q14.2-->q14.3. The procedure was successful even though KSF39 contains five additional human chromosomes. Six independent clones were selected. Five of these were found to be nonrepetitive, and four were found to map correctly to 13q14.2-->q14.3 when localized using the hybrid panel.

Authors: Bull, P; Barwell, J; Hannah, H; Pautler, SE; Higgins, M

• Publication status: Published
• Journal: Cytogenetics and cell genetics
• Volume: 64
• Issue: 1
• Pages: 12-17
• Publication date: 1993-01-01
• DOI: 10.1159/000133550
• EISSN: 1424-859X
• ISSN: 0301-0171
• Language: English
• Keywords: Hepatolenticular Degeneration; Polymerase Chain Reaction; Genetic Markers; Chromosomes, Human, Pair 13; Humans