New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 129B; no. 1; pp. 27 - 28
• Main Authors: Vaquero, C., Baca-Garcia, E., Diaz-Sastre, C., Perez-Rodriguez, M.M., Navio Acosta, M., Saiz-Ruiz, J., de Leon, J., Fernandez-Piqueras, J.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.08.2004
• Subjects: Base Sequence; Dinucleotide Repeats - genetics; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; GABA; GABRA5; Genotype; Humans; polymorphism; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Protein Subunits - genetics; Receptors, GABA-A - genetics; Spain; Spain
• ISSN: 1552-4841; 1552-485X
• DOI: 10.1002/ajmg.b.30048

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). © 2004 Wiley‐Liss, Inc.