title: The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31 controls) were amplified and analysed for single-strand conformational polymorphism by capillary electrophoresis (CE-SSCP) and confirmed by sequencing.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Strathclyde Institute of Pharmacy and Biomedical Sciences (SIPBS), University of Strathclyde, Glasgow, G4 0NR, Scotland, UK. a_gibriel@yahoo.com
authors.forename: Abdullah A Y
authors.initials: AA
authors.lastname: Gibriel
authors.forename: Rothwelle J
authors.initials: RJ
authors.lastname: Tate
authors.forename: Yongbin
authors.initials: Y
authors.lastname: Yu
authors.forename: Emma
authors.initials: E
authors.lastname: Rawson-Lax
authors.forename: Harold M
authors.initials: HM
authors.lastname: Hammer
authors.forename: Justice N A
authors.initials: JN
authors.lastname: Tettey
authors.forename: Nigel J
authors.initials: NJ
authors.lastname: Pyne
authors.forename: Carolyn A
authors.initials: CA
authors.lastname: Converse
mesh_terms: D000354:Africa, Western; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D054815:Cyclic Nucleotide-Gated Cation Channels; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000235:genetics; D012606:Scotland; D016415:Sequence Alignment; D044465:White People / Q000235:genetics
chemical_list: D054815:Cyclic Nucleotide-Gated Cation Channels; C578919:glutamic acid-rich protein-2, human