GNAI2 Geninde İki Aday Polimorfizm

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Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
Issue:2
GNAI2 Geninde İki Aday Polimorfizm

GNAI2 Geninde İki Aday Polimorfizm

Authors : Emrah KARA, Cevdet NACAR, Beki KAN

Pages : 104-107

View : 33 | Download : 13

Publication Date : 2012-06-01

Article Type : Research Paper

Abstract :Objective: To investigate whether a variation in codon 193 of the GNAI2 gene previously determined in a recurrent somatotroph adenoma is a polymorphism. Patients and Methods: Genomic DNA extracted from blood was amplified for the fifth and sixth exons and the intervening sequence of the GNAI2 gene with Polymerase Chain Reaction PCR . PCR products were analyzed with Single Strand Conformation Polymorphism SSCP on Mutation Detection Enhancement MDE and polyacrylamide gels. Selected samples were subjected to direct sequencing. Results: In total, two samples exhibited abnormal banding patterns in SSCP analysis. DNA sequencing of the PCR products revealed no mutations in codon 193. On the other hand, these samples exhibited a C/T C20151 variation in the intervening sequence between exons 5 and 6 of the GNAI2 gene. Conclusions: Our results do not support the possibility of a polymorphism in codon 193 of the GNAI2 gene.
Keywords : G protein, polymorphism

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