TY - JOUR
T1 - New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping
AU - Vaquero, C.
AU - Baca-Garcia, E.
AU - Diaz-Sastre, C.
AU - Perez-Rodriguez, M. M.
AU - Navio Acosta, M.
AU - Saiz-Ruiz, J.
AU - De Leon, J.
AU - Fernandez-Piqueras, J.
PY - 2004/8/15
Y1 - 2004/8/15
N2 - 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).
AB - 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).
KW - GABA
KW - GABRA5
KW - Polymorphism
UR - http://www.scopus.com/inward/record.url?scp=3342905082&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.30048
DO - 10.1002/ajmg.b.30048
M3 - Article
C2 - 15274034
AN - SCOPUS:3342905082
SN - 1552-4841
VL - 129 B
SP - 27
EP - 28
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
IS - 1
ER -