Elsevier

Genomics

Volume 67, Issue 1, 1 July 2000, Pages 96-101
Genomics

Short Communication
High-Resolution Physical and Transcript Map of the Locus for Venous Malformations with Glomus Cells (VMGLOM) on Chromosome 1p21–p22

https://doi.org/10.1006/geno.2000.6232Get rights and content

Abstract

Vascular anomalies are congenital lesions that usually occur sporadically, but can be inherited. Previously, we have described that venous malformations, localized bluish-purple skin lesions, are caused by an activating mutation in the TIE2/TEK receptor. Moreover, we mapped another locus to chromosome 1p21–p22, for venous malformations with glomus cells (VMGLOM). Here we report a physical map, based on 18 overlapping YAC clones, spanning this 5-Mb VMGLOM locus, from marker GATA63C06 to D1S2664. In addition, we report a sequence-ready PAC map of 46 clones covering 1.48 Mb within the YAC contig, a region to which we have restricted VMGLOM. We describe 21 new STSs and nine novel CA repeats, seven of which are polymorphic. These data will enable positional cloning of genes for diseases mapped to this locus, including the VMGLOM gene, likely a currently unknown regulator of vasculogenesis and/or angiogenesis.

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1

To whom correspondence should be addressed at Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Avenue Hippocrate 75+4, BP 75.39, B-1200 Brussels, Belgium. Telephone: +32-2-764 6530. Fax: +32-2-764 7548. E-mail: [email protected].

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