New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping

C. Vaquero, E. Baca-Garcia, C. Diaz-Sastre, M. M. Perez-Rodriguez, M. Navio Acosta, J. Saiz-Ruiz, J. De Leon, J. Fernandez-Piqueras

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

We report the discovery of a new GABAA receptor alpha5 subunit gene polymorphism close to the polymorphism described by Glatt et al. (GT) 5GCGTGC(GT)21. This new polymorphism is of great importance, because it means that non-denaturing acrylamide gels used to separate the different alleles of the polymorphism described by Glatt et al. cannot distinguish an allele with the sequence: (GT)4GCGTGC(GT)n from another allele with the sequence: (GT)4(GCGT)4GC(GT) n-6. These gel fragments are separated by size, which would be the same in these two cases. An alternative would be to use an analysis method that can detect base changes, for instance, single strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE).

Original languageEnglish
Pages (from-to)27-28
Number of pages2
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume129 B
Issue number1
DOIs
StatePublished - 15 Aug 2004
Externally publishedYes

Keywords

  • GABA
  • GABRA5
  • Polymorphism

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