Vol.:(0123456789) 1 3 Chemical Papers https://doi.org/10.1007/s11696-019-00948-x ORIGINAL PAPER Point mutation in the TGFBI gene: surface‑enhanced infrared absorption spectroscopy (SEIRAS) as an analytical method D. Rosas‑Vara 1  · J. R. Molina‑Contreras 1  · F. Villalobos‑Piña 1  · J. C. Zenteno 3  · B. Buentello‑Volante 3  · O. F. Chacon‑Camacho 3  · R. Ayala‑Ramírez 3  · C. Frausto‑Reyes 4  · R. Hernández‑Martínez 2  · M. A. Ríos‑Corripio 2 Received: 15 July 2019 / Accepted: 25 September 2019 © Institute of Chemistry, Slovak Academy of Sciences 2019 Abstract A novel method to detect DNA mutations based on gold nanoparticles is described. This bioconjugate was prepared by conjugation of the TGFBI gene on the surface of gold nanoparticles. The surface plasmon resonance band observed in the ultraviolet–visible spectrum of the gold nanoparticles showed a shift to a lower energy after the surface was covered with the TGFBI gene. Surface-enhanced infrared spectroscopy (SEIRAS) showed the absorption bands of the bioconjugate due to their proximity to the nanoparticles. The SEIRAS efect was able to detect small and specifc changes in the sequence of the TGFBI gene using interactions of the bioconjugates. The study was performed on patients clinically diagnosed with lattice corneal dystrophy (LCD). To our knowledge, this is the frst report of FTIR spectroscopy employed to analyse this gene. We used genotyping results previously obtained by next-generation DNA sequencing technology to ensure that the analysed samples had the mutation. Our results show highly reproducible signals, which could be used for analytical studies of mutations in the genome. Keywords FTIR · DNA · PCR · Lattice corneal dystrophy (LCD) · Oculopharyngeal muscular dystrophy (OPMD) Introduction Knowledge of the existence of DNA mutations may aid in the timely treatment of diseases. Human transforming growth factor β-induced (TGFBI also known as BIGH3), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integ- rins. An alteration in cell surface interactions could be the underlying cause for the progressive accumulation of extracellular deposits in diferent layers of the cornea with the resulting changes of refractive index and transparency. To this date, 69 diferent pathogenic or likely pathogenic variants in TGFBI have been identifed in a heterozygous or homozygous state in various corneal dystrophies (Kheir et al. 2019). For this reason, efcient and cost-efective mutation detection technologies are of paramount importance for both research and the progress of molecular genetics. A variety of methods for identifying mutations have been published (Chin et al. 2013; Harada and Korf 2013; Southern 1996). However, many of these methods and techniques are time consuming, and some of them cannot identify structural and compositional changes in the samples simultaneously. This shows the need to implement new methodologies that would enable a reliable screening diagnosis within a short time. It is at this point where spectroscopy appears as a modern and attractive technique in the study of DNA and the detection of mutations. Infrared (IR) spectroscopy provides a unique vibrational phenotypic fngerprint that is complementary to genomic approaches to distinguish the allelic forms of each gene. Attenuated total refection Fourier transform infra- red spectroscopy (ATR-FTIR) is one of the most powerful * M. A. Ríos-Corripio anto200784@yahoo.com.mx 1 Department of Basic Sciences, Instituto Tecnológico de Aguascalientes, Aguascalientes, Mexico 2 CONACYT-Colegio de Postgraduados-Campus Córdoba, Carretera federal Córdoba-Veracruz Km. 348, Amatlán de los Reyes, C.P. 94946 Veracruz, Mexico 3 Department of Genetics, Research Unit, Instituto de Oftalmología “Conde de Valenciana” and Department of Biochemistry, Faculty of Medicine, UNAM, México, DF, Mexico 4 A.C., Aguascalientes Unit, Center for Research in Optics, Aguascalientes, Mexico