Physical map of the 850 kb Van der Woude critical region
- Univ. of Hamburg (Germany)
- Univ. of Iowa, Iowa City, IA (United States); and others
The VWS gene was recently localized for fine structure mapping within a 2 cM region of 1q32 between D1S245 and D1S205. D1S205 detected an allelic loss in one family where a developmental delay was cosegregating with typical features of VWS consistent with a submicroscopic deletion. D1S491 was mapped to the critical interval and proved to be heterozygous in at least one affected member of that family which narrows the critical interval to 1.6 cM. A YAC contig was constructed across this interval by screening the CEPH YAC {open_quote}A{close_quote} and {open_quote}B{close_quote} libraries with marker STSs and YAC end-clone STSs. A total of 16 YACs were identified and of these, 10 retested positive (5 from {open_quotes}A{close_quotes} and 5 from {open_quotes}B{close_quotes}). In addition, 2 other YACs were identified using data from the CEPH-Genethon Human Physical Map. The relative order of each YAC was deduced from the order of the genetic markers. The 12 YACs could be assembled into a single contig of about 4 Mb which includes the critical region. The maximum distance of the critical region is 850 kb based on the size of a single YAC which contains both flanking markers. We also mapped the microdeletion to this YAC by PCR using a human-hamster somatic cell hybrid whose human chromosome 1 component only contains the microdeletion. In addition, we mapped D1S70 to the critical interval and are testing a recently identified STRP from this clone in families with critical recombinants. Using the YAC clones and the microdeletion hybrid cell line, we excluded TAX1 and fibromodulin as candidate genes for VWS.
- OSTI ID:
- 134466
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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