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The FRAXA and FRAXE allele repeat size of boys from the Avon longitudinal study of parents and children (ALSPAC)

The FRAXA and FRAXE allele repeat size of boys from the Avon longitudinal study of parents and children (ALSPAC)
The FRAXA and FRAXE allele repeat size of boys from the Avon longitudinal study of parents and children (ALSPAC)
The FRAXA and FRAXE alleles of the FMR1 and FMR2 genes located on the X chromosome contain varying numbers of trinucleotide repeats. Large numbers of repeats at FRAXA (full mutations) manifest as Fragile X syndrome, associated with mental impairment that affects males more severely. In this paper, we present the dataset of frequencies of FRAXA and FRAXE repeat size extracted from DNA samples collected from boys enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC). DNA data were extracted from samples collected in ALSPAC clinics from several types of samples: cord blood, venepuncture blood taken at 43 months, 61 months, seven years or nine years. The DNA was amplified at FRAXA and FRAXE using fluorescent PCR in the Wessex Regional Genetics Laboratory, Salisbury District Hospital. The mean repeat size for FRAXA is 28.92 (S.D. 5.44), the median 30 and the range 8 to 68. There were particularly high numbers of boys with repeat sizes of 20 (10.67%) and 23 (7.35%). The mean repeat size for FRAXE is 17.41 (S.D. 3.94), with median of 16 and range of 0 to 61. There is a relatively high degree of variation of the FRAXA repeat size particularly and we suggest the extensive data available from the ALSPAC study opens up areas of research into understanding phenotypes associated with relatively unexplored repeat sizes. This could be particularly interesting for the lower repeat sizes occurring with high frequency at FRAXA in this population. As the data can be linked to exposures and phenotypes, it will provide a resource for researchers worldwide.
ALSPAC, FRAXA, FRAXE, Longitudinal cohort, Triplet repeats
2398-502X
1-12
Clark, Rosie
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Gregory, Steven
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Ring, Susan
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Jacobs, Patricia
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Ennis, Sarah
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Murray, Anna
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Ellis, Genette
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Golding, Jean
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Northstone, Kate
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Pembrey, Marcus
0754822a-e6df-4c71-8086-4989663b076c
Clark, Rosie
66150aac-dc74-45cb-a9af-11576ba34f2c
Gregory, Steven
cdfbee86-3eb2-4275-818b-64a6ab500235
Ring, Susan
79941daa-7ae8-47f1-beb4-e8560ce12fd8
Jacobs, Patricia
11d48bfa-0a1d-47e6-8159-fe8835a84a2a
Ennis, Sarah
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Murray, Anna
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Ellis, Genette
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Golding, Jean
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Northstone, Kate
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Pembrey, Marcus
0754822a-e6df-4c71-8086-4989663b076c

Clark, Rosie, Gregory, Steven, Ring, Susan, Jacobs, Patricia, Ennis, Sarah, Murray, Anna, Ellis, Genette, Golding, Jean, Northstone, Kate and Pembrey, Marcus (2020) The FRAXA and FRAXE allele repeat size of boys from the Avon longitudinal study of parents and children (ALSPAC). Wellcome Open Research, 4, 1-12, [116]. (doi:10.12688/wellcomeopenres.15342.1).

Record type: Article

Abstract

The FRAXA and FRAXE alleles of the FMR1 and FMR2 genes located on the X chromosome contain varying numbers of trinucleotide repeats. Large numbers of repeats at FRAXA (full mutations) manifest as Fragile X syndrome, associated with mental impairment that affects males more severely. In this paper, we present the dataset of frequencies of FRAXA and FRAXE repeat size extracted from DNA samples collected from boys enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC). DNA data were extracted from samples collected in ALSPAC clinics from several types of samples: cord blood, venepuncture blood taken at 43 months, 61 months, seven years or nine years. The DNA was amplified at FRAXA and FRAXE using fluorescent PCR in the Wessex Regional Genetics Laboratory, Salisbury District Hospital. The mean repeat size for FRAXA is 28.92 (S.D. 5.44), the median 30 and the range 8 to 68. There were particularly high numbers of boys with repeat sizes of 20 (10.67%) and 23 (7.35%). The mean repeat size for FRAXE is 17.41 (S.D. 3.94), with median of 16 and range of 0 to 61. There is a relatively high degree of variation of the FRAXA repeat size particularly and we suggest the extensive data available from the ALSPAC study opens up areas of research into understanding phenotypes associated with relatively unexplored repeat sizes. This could be particularly interesting for the lower repeat sizes occurring with high frequency at FRAXA in this population. As the data can be linked to exposures and phenotypes, it will provide a resource for researchers worldwide.

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More information

Accepted/In Press date: 16 July 2019
e-pub ahead of print date: 2 August 2019
Published date: 20 March 2020
Keywords: ALSPAC, FRAXA, FRAXE, Longitudinal cohort, Triplet repeats

Identifiers

Local EPrints ID: 435711
URI: http://eprints.soton.ac.uk/id/eprint/435711
ISSN: 2398-502X
PURE UUID: 9d3b9534-fcd3-45d4-81d9-ea3350456c0c
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 18 Nov 2019 17:33
Last modified: 22 Nov 2021 02:44

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Contributors

Author: Rosie Clark
Author: Steven Gregory
Author: Susan Ring
Author: Patricia Jacobs
Author: Sarah Ennis ORCID iD
Author: Anna Murray
Author: Genette Ellis
Author: Jean Golding
Author: Kate Northstone
Author: Marcus Pembrey

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