Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(3;11) (p16.2;p15.4)
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(3;11) (p16.2;p15.4)
The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with the same cytogenetic breakpoints. Some of these could represent additional recurrent rearrangements, alternatively they could be identical by descent (IBD) or have subtly different breakpoints when examined under higher resolution. We have used molecular breakpoint mapping and haplotyping to determine the origin of three pairs of reciprocal constitutional translocations, each with the same cytogenetic breakpoints. FISH mapping showed one pair to have different breakpoints and thus to be distinct rearrangements. Another pair of translocations were IBD with identical breakpoint intervals and highly conserved haplotypes on the derived chromosomes. The third pair, t(4;11)(p16.2;p15.4), had the same breakpoint intervals by aCGH and fosmid mapping but had very different haplotypes, therefore they represent a novel recurrent translocation. Unlike the t(11;22)(q23;q11), the formation of the t(4;11)(p16.2;p15.4) may have involved segmental duplications and sequence homology at the breakpoints. Additional examples of recurrent translocations could be identified if the resources were available to study more translocations using the approaches described here. However, like the t(4;11)(p16.2;p15.4), such translocations are likely to be rare with the t(11;22) remaining the only common recurrent constitutional reciprocal translocation
181-188
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Bryant, Victoria
425fb9cd-d920-42df-8848-9e9f2461d4e4
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Brewer, Carole
f497c7f3-050d-4494-aecb-7e6a23101d18
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
March 2009
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Bryant, Victoria
425fb9cd-d920-42df-8848-9e9f2461d4e4
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Brewer, Carole
f497c7f3-050d-4494-aecb-7e6a23101d18
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Thomas, N. Simon, Maloney, Viv, Bryant, Victoria, Huang, Shuwen, Brewer, Carole, Lachlan, Katherine and Jacobs, Patricia A.
(2009)
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(3;11) (p16.2;p15.4).
Human Genetics, 125 (2), .
(doi:10.1007/s00439-008-0611-8).
Abstract
The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with the same cytogenetic breakpoints. Some of these could represent additional recurrent rearrangements, alternatively they could be identical by descent (IBD) or have subtly different breakpoints when examined under higher resolution. We have used molecular breakpoint mapping and haplotyping to determine the origin of three pairs of reciprocal constitutional translocations, each with the same cytogenetic breakpoints. FISH mapping showed one pair to have different breakpoints and thus to be distinct rearrangements. Another pair of translocations were IBD with identical breakpoint intervals and highly conserved haplotypes on the derived chromosomes. The third pair, t(4;11)(p16.2;p15.4), had the same breakpoint intervals by aCGH and fosmid mapping but had very different haplotypes, therefore they represent a novel recurrent translocation. Unlike the t(11;22)(q23;q11), the formation of the t(4;11)(p16.2;p15.4) may have involved segmental duplications and sequence homology at the breakpoints. Additional examples of recurrent translocations could be identified if the resources were available to study more translocations using the approaches described here. However, like the t(4;11)(p16.2;p15.4), such translocations are likely to be rare with the t(11;22) remaining the only common recurrent constitutional reciprocal translocation
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Published date: March 2009
Organisations:
Human Development & Health
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Local EPrints ID: 69646
URI: http://eprints.soton.ac.uk/id/eprint/69646
ISSN: 0340-6717
PURE UUID: 3d53de18-0fa6-42fd-bea4-fe072b251b68
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Date deposited: 25 Nov 2009
Last modified: 13 Mar 2024 19:40
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Author:
N. Simon Thomas
Author:
Viv Maloney
Author:
Victoria Bryant
Author:
Shuwen Huang
Author:
Carole Brewer
Author:
Katherine Lachlan
Author:
Patricia A. Jacobs
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