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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

By Mette Gilling, Jörn S. Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert, Thomas Meyer, Karen Brondum-Nielsen, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer and N. Simon Thomas

Abstract

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and sequencing of the junction fragments on 10p11 and 10q21 revealed that neither inversion breakpoint directly involved any genes or repetitive sequences, although both breakpoint regions contain a number of repeats. All 20 apparently unrelated inv(10) families in our study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans

Topics: QH426
Year: 2006
OAI identifier: oai:eprints.soton.ac.uk:44330
Provided by: e-Prints Soton
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