Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
Background: it is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear.
Methods: we have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35–58 repeats) in a series of 366 women ascertained because of menopause before the age of 40.
Results: we found no significant difference in the incidence of intermediates in cases compared with controls. Thus, we were unable to replicate previous studies showing a positive association, despite a significantly larger sample size.
Conclusions: we therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence
POF, CGG repeat, FMR1, intermediate
1335-1338
Bennett, Claire E.
579bbede-be4a-43e7-afe1-5a8d0006939b
Conway, Gerard S.
b825b71b-0dba-46a4-9a3a-a9699aaa159c
Macpherson, James N.
1069e9a6-a4c5-47da-b08e-e370ce281502
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Murray, Anna
2c3bf35c-26dd-427d-9673-ccbfa7f17e9a
May 2010
Bennett, Claire E.
579bbede-be4a-43e7-afe1-5a8d0006939b
Conway, Gerard S.
b825b71b-0dba-46a4-9a3a-a9699aaa159c
Macpherson, James N.
1069e9a6-a4c5-47da-b08e-e370ce281502
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Murray, Anna
2c3bf35c-26dd-427d-9673-ccbfa7f17e9a
Bennett, Claire E., Conway, Gerard S., Macpherson, James N., Jacobs, Patricia A. and Murray, Anna
(2010)
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
Human Reproduction, 25 (5), .
(doi:10.1093/humrep/deq058).
Abstract
Background: it is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear.
Methods: we have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35–58 repeats) in a series of 366 women ascertained because of menopause before the age of 40.
Results: we found no significant difference in the incidence of intermediates in cases compared with controls. Thus, we were unable to replicate previous studies showing a positive association, despite a significantly larger sample size.
Conclusions: we therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence
This record has no associated files available for download.
More information
Submitted date: May 2010
Published date: May 2010
Keywords:
POF, CGG repeat, FMR1, intermediate
Identifiers
Local EPrints ID: 79692
URI: http://eprints.soton.ac.uk/id/eprint/79692
PURE UUID: 07af427a-20e1-4914-9019-98709055a5d1
Catalogue record
Date deposited: 19 Mar 2010
Last modified: 14 Mar 2024 00:32
Export record
Altmetrics
Contributors
Author:
Claire E. Bennett
Author:
Gerard S. Conway
Author:
James N. Macpherson
Author:
Patricia A. Jacobs
Author:
Anna Murray
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics