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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

Gilling, M., Dullinger, J. S., Gesk, S., Metzke-Heidemann, S., Siebert, R., Meyer, T., et al. (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: AJHG / American Society of Human Genetics, 78(5), 878-883. doi:0002-9297/2006/7805-0014.

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Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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 Creators:
Gilling, Mette, Author
Dullinger, Jörn S.1, Author
Gesk, Stefan, Author
Metzke-Heidemann, Simone, Author
Siebert, Reiner, Author
Meyer, Thomas, Author
Brondum-Nielsen, Karen, Author
Tommerup, Niels, Author
Ropers, Hans-Hilger2, Author           
Tümer, Zeynep, Author
Kalscheuer, Vera M.3, Author           
Thomas, N. Simon, Author
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 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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Language(s): eng - English
 Dates: 2006-03-17
 Publication Status: Issued
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 Identifiers: eDoc: 307626
DOI: 0002-9297/2006/7805-0014
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Title: American Journal of Human Genetics : AJHG / American Society of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 78 (5) Sequence Number: - Start / End Page: 878 - 883 Identifier: ISSN: 1537-6605