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

Research output: Contribution to journalArticle

2 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.
LanguageEnglish
Pages155-158
Number of pages4
JournalGene
Volume515
Issue number1
Early online date4 Feb 2013
DOIs
Publication statusPublished - 15 Feb 2013

Fingerprint

Retinitis Pigmentosa
Glutamic Acid
Exons
Mutation
Proteins
3' Flanking Region
Single-Stranded Conformational Polymorphism
Cheek
Capillary Electrophoresis
DNA
Population

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

Cite this

Gibriel, A., Tate, R., Yu, Y., Rawson-Lax, E., Hammer, HM., Tettey, J. N. A., ... Converse, C. (2013). The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism. Gene, 515(1), 155-158. https://doi.org/10.1016/j.gene.2012.11.005
Gibriel, Abdullah ; Tate, Rothwelle ; Yu, Yongbin ; Rawson-Lax, E. ; Hammer, HM ; Tettey, Justice Nii Addy ; Pyne, Nigel ; Converse, Carolyn. / The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism. In: Gene. 2013 ; Vol. 515, No. 1. pp. 155-158.
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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.",
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The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism. / Gibriel, Abdullah; Tate, Rothwelle; Yu, Yongbin; Rawson-Lax, E.; Hammer, HM; Tettey, Justice Nii Addy; Pyne, Nigel; Converse, Carolyn.

In: Gene, Vol. 515, No. 1, 15.02.2013, p. 155-158.

Research output: Contribution to journalArticle

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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

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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.

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