De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
Background: congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a general paternal bias in the origin of non-recurrent unbalanced rearrangements, there are few data on parental origin of non-recurrent balanced rearrangements.
Methods: the parental origin of a series of de novo balanced reciprocal translocations was determined using DNA from flow sorted derivative chromosomes and linkage analysis.
Results: of 27 translocations, we found 26 to be of paternal origin and only one of maternal origin. We also found the paternally derived translocations to be associated with a significantly increased paternal age (p<0.008).
Conclusion: our results suggest there is a very marked paternal bias in the origin of all non-recurrent reciprocal translocations and that they may arise during one of the numerous mitotic divisions that occur in the spermatogonial germ cells prior to meiosis
112-115
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Morris, Joan K.
166e8a8b-5205-4819-b52b-96edfda3e68b
Baptista, Julia
f34da966-c93a-4569-85a9-a7ca6dd29819
Ng, Bee Ling
d569ce7f-b642-4166-81ee-cc718d50a0b0
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
February 2010
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Morris, Joan K.
166e8a8b-5205-4819-b52b-96edfda3e68b
Baptista, Julia
f34da966-c93a-4569-85a9-a7ca6dd29819
Ng, Bee Ling
d569ce7f-b642-4166-81ee-cc718d50a0b0
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Thomas, N. Simon, Morris, Joan K., Baptista, Julia, Ng, Bee Ling, Crolla, John A. and Jacobs, Patricia A.
(2010)
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
Journal of Medical Genetics, 47 (2), .
(doi:10.1136/jmg.2009.069716).
Abstract
Background: congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a general paternal bias in the origin of non-recurrent unbalanced rearrangements, there are few data on parental origin of non-recurrent balanced rearrangements.
Methods: the parental origin of a series of de novo balanced reciprocal translocations was determined using DNA from flow sorted derivative chromosomes and linkage analysis.
Results: of 27 translocations, we found 26 to be of paternal origin and only one of maternal origin. We also found the paternally derived translocations to be associated with a significantly increased paternal age (p<0.008).
Conclusion: our results suggest there is a very marked paternal bias in the origin of all non-recurrent reciprocal translocations and that they may arise during one of the numerous mitotic divisions that occur in the spermatogonial germ cells prior to meiosis
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Published date: February 2010
Organisations:
Human Genetics
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Local EPrints ID: 69895
URI: http://eprints.soton.ac.uk/id/eprint/69895
ISSN: 0022-2593
PURE UUID: bac1b781-461e-4f95-bbe0-fe90faa2a917
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Date deposited: 11 Dec 2009
Last modified: 13 Mar 2024 19:50
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Contributors
Author:
N. Simon Thomas
Author:
Joan K. Morris
Author:
Julia Baptista
Author:
Bee Ling Ng
Author:
John A. Crolla
Author:
Patricia A. Jacobs
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