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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 307626.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans
Authors:Gilling, Mette; Dullinger, Jörn S.; Gesk, Stefan; Metzke-Heidemann, Simone; Siebert, Reiner; Meyer, Thomas; Brondum-Nielsen, Karen; Tommerup, Niels; Ropers, Hans-Hilger; Tümer, Zeynep; Kalscheuer, Vera M.; Thomas, N. Simon
Date of Publication (YYYY-MM-DD):2006-03-17
Title of Journal:American Journal of Human Genetics : AJHG / American Society of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet.
Issue / Number:5
Start Page:878
End Page:883
Copyright:© 2006 by The American Society of Human Genetics. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Address for correspondence and reprints: Dr. N. Simon Thomas, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, United Kingdom. E-mail: simon.thomas@salisbury.nhs.uk
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen;
2.Charité University Hospital, Berlin, Germany;
3.Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany;
4.The John F. Kennedy Institute, Glostrup, Denmark;
5.Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.
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