The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

Abdullah Gibriel; Rothwelle Tate; Yongbin Yu; E. Rawson-Lax; HM Hammer; Justice Nii Addy Tettey; Nigel Pyne; Carolyn Converse

doi:10.1016/j.gene.2012.11.005

The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

Abdullah Gibriel, Rothwelle Tate, Yongbin Yu, E. Rawson-Lax, HM Hammer, Justice Nii Addy Tettey, Nigel Pyne, Carolyn Converse

Strathclyde Institute Of Pharmacy And Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

The aim of the present study is to probe the potential
association between previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls.
Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31controls) were amplified and analysed for single-strand conformational polymorphism by capillary electrophoresis (CE-SSCP) and confirmed by sequencing.
The p.Arg86Gln mutation in exon 4 was found in just one patient (out of 130), and in 10 of the 31 unaffected subjects. All of these occurrences were in people of West African origin (patient and controls). Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP. The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP. The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.

Original language	English
Pages (from-to)	155-158
Number of pages	4
Journal	Gene
Volume	515
Issue number	1
Early online date	4 Feb 2013
DOIs	https://doi.org/10.1016/j.gene.2012.11.005
Publication status	Published - 15 Feb 2013

Keywords

p.Arg86Gln change
GARP2
glutamic acid-rich protein-2
West African-related
polymorphism
capillary electrophoresis single stranded conformational polymorphism (CE-SSCP)
retinitis pigmentosa (RP)
cyclic nucleotide-gated channel
glutamic acid-rich protein (GARP)
african genealogical markers

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10.1016/j.gene.2012.11.005

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@article{14fbce4a7abb48b4935e52eb9e3b9461,

title = "The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism",

abstract = "The aim of the present study is to probe the potentialassociation between previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls. Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31controls) were amplified and analysed for single-strand conformational polymorphism by capillary electrophoresis (CE-SSCP) and confirmed by sequencing. The p.Arg86Gln mutation in exon 4 was found in just one patient (out of 130), and in 10 of the 31 unaffected subjects. All of these occurrences were in people of West African origin (patient and controls). Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP. The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP. The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.",

keywords = "p.Arg86Gln change, GARP2, glutamic acid-rich protein-2, West African-related , polymorphism, capillary electrophoresis single stranded conformational polymorphism (CE-SSCP), retinitis pigmentosa (RP), cyclic nucleotide-gated channel, glutamic acid-rich protein (GARP), african genealogical markers",

author = "Abdullah Gibriel and Rothwelle Tate and Yongbin Yu and E. Rawson-Lax and HM Hammer and Tettey, {Justice Nii Addy} and Nigel Pyne and Carolyn Converse",

year = "2013",

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day = "15",

doi = "10.1016/j.gene.2012.11.005",

language = "English",

volume = "515",

pages = "155--158",

journal = "Gene",

issn = "0378-1119",

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T1 - The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

AU - Gibriel, Abdullah

AU - Tate, Rothwelle

AU - Yu, Yongbin

AU - Rawson-Lax, E.

AU - Hammer, HM

AU - Tettey, Justice Nii Addy

AU - Pyne, Nigel

AU - Converse, Carolyn

PY - 2013/2/15

Y1 - 2013/2/15

N2 - The aim of the present study is to probe the potentialassociation between previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls. Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31controls) were amplified and analysed for single-strand conformational polymorphism by capillary electrophoresis (CE-SSCP) and confirmed by sequencing. The p.Arg86Gln mutation in exon 4 was found in just one patient (out of 130), and in 10 of the 31 unaffected subjects. All of these occurrences were in people of West African origin (patient and controls). Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP. The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP. The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.

AB - The aim of the present study is to probe the potentialassociation between previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls. Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31controls) were amplified and analysed for single-strand conformational polymorphism by capillary electrophoresis (CE-SSCP) and confirmed by sequencing. The p.Arg86Gln mutation in exon 4 was found in just one patient (out of 130), and in 10 of the 31 unaffected subjects. All of these occurrences were in people of West African origin (patient and controls). Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP. The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP. The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP. This change may provide a useful marker for West African ancestry.

KW - p.Arg86Gln change

KW - GARP2

KW - glutamic acid-rich protein-2

KW - West African-related

KW - polymorphism

KW - capillary electrophoresis single stranded conformational polymorphism (CE-SSCP)

KW - retinitis pigmentosa (RP)

KW - cyclic nucleotide-gated channel

KW - glutamic acid-rich protein (GARP)

KW - african genealogical markers

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U2 - 10.1016/j.gene.2012.11.005

DO - 10.1016/j.gene.2012.11.005

M3 - Article

SN - 0378-1119

VL - 515

SP - 155

EP - 158

JO - Gene

JF - Gene

IS - 1

ER -

The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

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Keywords

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