An n-allele model for progressive amplification in the FMR1 locus
An n-allele model for progressive amplification in the FMR1 locus
An n-allele model is developed for the FMR1 locus, which causes the fragile X syndrome, where n is the number of triplet repeats in the first exon. Frequencies in the general population and in index families are used to generate an n to n + δ transition matrix that predicts specific risks in satisfactory agreement with observation. However, until sequencing distinguishes between stable and unstable alleles with the same value of n, it is premature to infer whether allelic frequencies at the FMR1 locus are at equilibrium or, as some have suggested, are evolving toward higher frequencies of the pathogenic allele.
fragile X syndrome, mutation
4833-4837
Morris, A.
6e00b629-f6bb-4541-a4e2-f87abd7c7527
Morton, N. E.
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Macpherson, J.
8a0efba7-4e0f-44f2-bc47-8c006cbd2d8c
Nelson, D.
e8b6beba-0f54-4c4b-9143-d53ef997e671
Sherman, S.
5ccafb6e-ca3e-4019-9db7-e64a6cb3c11f
23 May 1995
Morris, A.
6e00b629-f6bb-4541-a4e2-f87abd7c7527
Morton, N. E.
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Macpherson, J.
8a0efba7-4e0f-44f2-bc47-8c006cbd2d8c
Nelson, D.
e8b6beba-0f54-4c4b-9143-d53ef997e671
Sherman, S.
5ccafb6e-ca3e-4019-9db7-e64a6cb3c11f
Morris, A., Morton, N. E., Collins, A., Macpherson, J., Nelson, D. and Sherman, S.
(1995)
An n-allele model for progressive amplification in the FMR1 locus.
Proceedings of the National Academy of Sciences, 92 (11), .
(doi:10.1073/pnas.92.11.4833).
Abstract
An n-allele model is developed for the FMR1 locus, which causes the fragile X syndrome, where n is the number of triplet repeats in the first exon. Frequencies in the general population and in index families are used to generate an n to n + δ transition matrix that predicts specific risks in satisfactory agreement with observation. However, until sequencing distinguishes between stable and unstable alleles with the same value of n, it is premature to infer whether allelic frequencies at the FMR1 locus are at equilibrium or, as some have suggested, are evolving toward higher frequencies of the pathogenic allele.
This record has no associated files available for download.
More information
Published date: 23 May 1995
Keywords:
fragile X syndrome, mutation
Identifiers
Local EPrints ID: 479983
URI: http://eprints.soton.ac.uk/id/eprint/479983
ISSN: 0027-8424
PURE UUID: 5e8a4d62-bb16-44f7-baef-2aa9c9db0693
Catalogue record
Date deposited: 31 Jul 2023 17:02
Last modified: 17 Mar 2024 02:38
Export record
Altmetrics
Contributors
Author:
A. Morris
Author:
N. E. Morton
Author:
J. Macpherson
Author:
D. Nelson
Author:
S. Sherman
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
