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| Nephropathic cystinosis (CTNS-LSB): Construction of a YAC contig comprising the refined critical region on chromosome 17p13 |
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| Author(s): Peters U, Senger G, Rahlmann M, DuChesne I, Stec I, Kohler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E |
| Source: EUROPEAN JOURNAL OF HUMAN GENETICS Volume: 5 Issue: 1 Pages: 9-14 Published: JAN-FEB 1997 |
| Times Cited: 12 References: 15 |
| Abstract: A yeast artificial chromosome (YAC) contig was constructed encompassing the entire region on chromosome 17p13 where the autosomal recessive disorder infantile nephropathic cystinosis (MIM 21980, CTNS-LSB) has been genetically mapped, It comprises seven clones ordered by their content of a series of six sequence-tagged sites (STSs), Fluorescence in situ hybridisation (FISH) revealed two chimaeric clones. The order of four polymorphic STSs mapped with the contig was consistent with that of the known genetic map with the exception of markers D17S1583 (AFMb307zg5) and D17S1798 (AFMa202xf5) where a telomeric location of D17S1583 was inferred from the contig; two non-polymorphic STSs were localised within the marker framework. From the analysis of recombination events in an unaffected individual as defined by leucocyte cystine levels we support the high-resolution mapping of this region to a small genetic interval and show that it is entirely represented on a single, non-chimaeric YAC clone in the contig. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MUNSTER, KINDERKLIN, D-4400 MUNSTER, GERMANY
2. UNIV JENA, INST HUMAN GENET & ANTHROPOL, D-6900 JENA, GERMANY
3. UNIV WURZBURG, INST HUMAN GENET, D-8700 WURZBURG, GERMANY
4. UNIV TUBINGEN, HALS NASEN OHREN KLIN, TUBINGEN, GERMANY
5. GENETHON, CNRS, URA 1922, EVRY, FRANCE |
| Publisher: KARGER, ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: WY123 |
| ISSN: 1018-4813 |
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