title: Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
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.
authors.affiliation: Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen.
authors.forename: Mette
authors.initials: M
authors.lastname: Gilling
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany; Charité University Hospital, Berlin, Germany.
authors.forename: Jörn S
authors.initials: JS
authors.lastname: Dullinger
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Metzke-Heidemann
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.affiliation: Charité University Hospital, Berlin, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Meyer
authors.affiliation: The John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: Karen
authors.initials: K
authors.lastname: Brondum-Nielsen
authors.affiliation: Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen.
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.affiliation: Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom. Electronic address: simon.thomas@salisbury.nhs.uk.
authors.forename: N Simon
authors.initials: NS
authors.lastname: Thomas
mesh_terms: D001483:Base Sequence; D002503:Centromere; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10; D003001:Cloning, Molecular; D015331:Cohort Studies; D005060:Europe; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide