Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
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ABSTRACT:
SUBMITTER: Gilling M
PROVIDER: S-EPMC1474032 | biostudies-literature | 2006 May
REPOSITORIES: biostudies-literature
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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 Mette M Dullinger Jörn S JS Gesk Stefan S Metzke-Heidemann Simone S Siebert Reiner R Meyer Thomas T Brondum-Nielsen Karen K Tommerup Niels N Ropers Hans-Hilger HH Tümer Zeynep Z Kalscheuer Vera M VM Thomas N Simon NS
American journal of human genetics 20060317 5
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 detaile ...[more]
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