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New GABA A receptor alpha5 subunit gene polymorphism that may confound genotyping
Author(s) -
Vaquero C.,
BacaGarcia E.,
DiazSastre C.,
PerezRodriguez M.M.,
Navio Acosta M.,
SaizRuiz J.,
de Leon J.,
FernandezPiqueras J.
Publication year - 2004
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30048
Subject(s) - genotyping , single strand conformation polymorphism , polymorphism (computer science) , allele , microbiology and biotechnology , genetics , biology , protein subunit , temperature gradient gel electrophoresis , polyacrylamide gel electrophoresis , gene , exon , genotype , biochemistry , 16s ribosomal rna , enzyme
We report the discovery of a new GABA A receptor alpha5 subunit gene polymorphism close to the polymorphism described by Glatt et al. (GT) 5 GCGTGC(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) 4 GCGTGC(GT)n from another allele with the sequence: (GT) 4 (GCGT) 4 GC(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). © 2004 Wiley‐Liss, Inc.