title: Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP.
abstract: OBJECTIVE
  The growth hormone (GH) receptor (GHR) exon 3 deleted/full-length (d3/fl) polymorphism has been suggested to affect GH sensitivity. The conventional genotyping method used for this polymorphism (multiplex PCR with fragment detection by gel electrophoresis) is laborious and requires large amount of DNA template. This has restricted analysis of this polymorphism to small cohorts. Our aim was to evaluate the accuracy of using a tagging single nucleotide polymorphism (tagSNP) as a marker for the d3/fl polymorphism.
  
  
  METHODS
  The d3/fl polymorphism was analyzed using TaqMan SNP genotyping of the tagSNP rs6873545 in 183 patients with adult GH deficiency (GHD). The results were compared to d3/fl genotypes determined by the conventional method.
  
  
  RESULTS
  Genotyping success rate for the tagSNP was 100%. Frequency of the d3-allele was 24.0% (d3/d3 7.7%, d3/fl 32.2% and fl/fl 60.1%) and the results from the two different methods were identical. Moreover, three samples previously undetermined when genotyped using the conventional method were successfully analyzed using the tagSNP.
  
  
  CONCLUSIONS
  The GHR d3/fl polymorphism can be studied by TaqMan SNP genotyping. Use of the tagSNP facilitates investigations of the effects of the d3/fl polymorphism in large cohorts.
authors.affiliation: Department of Endocrinology, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, SE-413 45 Göteborg, Sweden. camilla.glad@medic.gu.se
authors.forename: Camilla A M
authors.initials: CA
authors.lastname: Glad
authors.forename: Gudmundur
authors.initials: G
authors.lastname: Johannsson
authors.forename: Lena M S
authors.initials: LM
authors.lastname: Carlsson
authors.forename: Per-Arne
authors.initials: PA
authors.lastname: Svensson
mesh_terms: D000328:Adult; D005091:Exons; D017353:Gene Deletion; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D005828:Genetics, Population / Q000379:methods; D005838:Genotype; D057166:High-Throughput Screening Assays / Q000379:methods*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics; D011986:Receptors, Somatotropin / Q000235:genetics*; D016324:Sequence Tagged Sites; D013997:Time Factors
chemical_list: D020033:Protein Isoforms; D011986:Receptors, Somatotropin