Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
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.
878-883
Gilling, Mette
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Dullinger, Jörn S.
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Gesk, Stefan
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Metzke-Heidemann, Simone
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Siebert, Reiner
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Meyer, Thomas
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Brondum-Nielsen, Karen
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Tommerup, Niels
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Ropers, Hans-Hilger
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Tümer, Zeynep
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Kalscheuer, Vera M.
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Thomas, N. Simon
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May 2006
Gilling, Mette
547fd45e-1026-4e55-a58f-d2cfe909394e
Dullinger, Jörn S.
862d51dc-ad30-4452-88fa-2b445d009e72
Gesk, Stefan
fadb059b-e476-4db7-98f8-ed08201d7f5d
Metzke-Heidemann, Simone
89083b3f-f032-4cff-aa0b-616e4aa3ec99
Siebert, Reiner
47869d4a-d35d-4638-8744-1adb6e03fadb
Meyer, Thomas
4a0e4eda-5fbc-4352-aa2f-cec35570bf51
Brondum-Nielsen, Karen
3104e138-0058-45dd-b26d-916d92b69e82
Tommerup, Niels
cf684508-e783-4a54-8ef6-0f75bb94350c
Ropers, Hans-Hilger
09d4e1c7-6ee2-4e79-8bf7-0ede83d77caa
Tümer, Zeynep
75c1d336-a336-4ceb-a19a-e20e1eeae033
Kalscheuer, Vera M.
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Thomas, N. Simon
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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. and Thomas, N. Simon
(2006)
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
American Journal of Human Genetics, 78 (5), .
(doi:10.1086/503632).
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.
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Published date: May 2006
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Local EPrints ID: 44330
URI: http://eprints.soton.ac.uk/id/eprint/44330
ISSN: 0002-9297
PURE UUID: c5c2a136-ed44-4406-a035-b45bdaa1f386
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Date deposited: 26 Feb 2007
Last modified: 15 Mar 2024 09:02
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Contributors
Author:
Mette Gilling
Author:
Jörn S. Dullinger
Author:
Stefan Gesk
Author:
Simone Metzke-Heidemann
Author:
Reiner Siebert
Author:
Thomas Meyer
Author:
Karen Brondum-Nielsen
Author:
Niels Tommerup
Author:
Hans-Hilger Ropers
Author:
Zeynep Tümer
Author:
Vera M. Kalscheuer
Author:
N. Simon Thomas
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