Elsevier

Genomics

Volume 34, Issue 1, 15 May 1996, Pages 17-23
Genomics

Regular Article
Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion

https://doi.org/10.1006/geno.1996.0237Get rights and content

Abstract

The majority of Williams–Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding ELN to define the extent of deletions associated with WBS. With only one exception, ELN, D7S1870, and one copy of the D7S489 locus (D7S489U) were always included in the deletions. One patient showed lack of maternal inheritance at D7S1870 and not at ELN or D7S489U. A product corresponding to D7S489U was amplified from YAC 743G6 and from the P1 clone RMC07P008, thereby localizing both to within the common deletion. The boundary of the deleted region on the proximal (centromeric) side is D7S653 and on the distal side is D7S675, neither of which were ever included in the deletion. One locus, D7S489L, was variably deleted in patients, indicating a minimum of two common breakpoints on the proximal side. At least one additional repeat amplified by D7S489 (D7S489M) was localized to a YAC contig mapping distal to the common deletion. The D7S489 sequence is highly homologous to several cDNA clones in the GenBank database and contains anAlusequence. It is possible that this and/or other repetitive sequences in this region could play a role in the mechanism of deletion.

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Cited by (65)

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    Dinucleotide repeats located in the intergenic region between GTF2I/GTF2IP1/GTF2IP2 and NCF1/NCF1P1/NCF1P2 (BBSTR1) and intron 3 of the GTF2IRD2/GTF2IRD2P1/GTF2IRD2P2 gene (BBSTR2) identify six alleles in control individuals, two from each of the block B copies (fig. 1). The microsatellite marker AFM136xe3 (BASTR1) identifies a locus within the commonly deleted region (D7S489B) and three additional loci, each located in one of the block A copies (D7S489A, D7S489Cc, and D7S489Ct) (fig. 1) (Pérez Jurado et al. 1996; Robinson et al. 1996). The vast majority of patients (70 of 74) displayed only five block B alleles with BBSTR1 and BBSTR2 but the normal six alleles from block A, indicating that the deletion was caused by recombination between blocks Bc and Bm (figs. 1 and 2a).

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To whom correspondence should be addressed at UBC Department of Medical Genetics, BC Children's Hospital, Room C234-4500, Oak Street, Vancouver V6H 3N1, Canada. Telephone: (604) 875-3229. Fax: (604) 875-3490. E-mail [email protected].

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