scholarly journals Estimation of CYP3A4*1B Single Nucleotide Polymorphism Using Target-Assembled In-Situ Detection by Synthetic DNA-Mounted Excimers

2021 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Synthetic Dna ◽  
In Situ Detection

scholarly journals Estimation of CYP3A4*1B single nucleotide polymorphism using target-assembled in-situ detection by synthetic DNA-mounted excimers

2021 ◽  
Vol 2 (2) ◽  
pp. 01-08
Author(s):  
Abdul M Gbaj ◽  
Inass A Sadawe ◽  
Nisreen H Meiqal ◽  
Salah M Bensaber ◽  
Abdulhamid R Hamid ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Detection System ◽  
Stokes Shift ◽  
Fluorescence Emission ◽  
Dimensional Structure ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Excimer Fluorescence ◽  
Synthetic Dna ◽  
Excimer Formation

CYP3A4*1B is a single nucleotide polymorphism of CYP3A4 and is associated with prostate cancer which exhibits higher nifedipine oxidase activity in liver. This research provides details of the effects of structural variation and medium effects for the recently reported split-oligonucleotide (tandem) probe system for excimers-based fluorescence detection of DNA. In this approach the detection system is split at a molecular level into signal-silent components, which must be assembled correctly into a specific 3-dimensional structure to ensure close proximity of the excimer partners and the consequent excimer fluorescence emission on excitation. The model system consists of two 11-mer oligonucleotides, complementary to adjacent sites of a 22-mer DNA target. Each oligonucleotide probeis equipped with functions able to form an excimer on correct, contiguous hybridization. The extremely rigorous structural demands for excimer formation and emission required careful structural design of partners for excimer formation, which are here described. This study demonstrates that the excimer formed emitted at ~480 nm with alarge Stokes shift (~130 - 140 nm).

scholarly journals Origen de las aneuploidías en blastocistos humanos, analizados por la técnica de polimorfismo de nucleotide único con Parental Support

2014 ◽  
Vol 60 (1) ◽  
pp. 39-44
Author(s):  
Eduardo Gazzo Benavides ◽  
Gigliana Catanzaro Foppiano ◽  
Ernesto Escudero Velando ◽  
Federico Valdez León ◽  
Luis Noriega Hoces ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Parental Support ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Los Grupos

Introducción: El diagnóstico genético preimplantacional (PGD) por medio de las técnicas de aCGH y polimorfismo de nucleótido único (SNPs - single nucleotide polymorphism) se ha convertido en una herramienta útil en los ciclos de reproducción asistida, superando al PGD por hibridación fluorescente in situ (FISH). Estas técnicas nos permiten conocer las aneuploidías en cada uno de los cromosomas. Además, la SNPs con Parental Support (Natera, Inc) posibilita conocer el origen de la aneuploidía en los blastocistos, si por el espermatozoide o por el ovocito. Objetivos: Determinar la tasa de aneuplodías únicas en embriones humanos obtenidos por reproducción asistida, utilizando la técnica de polimorfismo de nucleótido único. Diseño: Estudio retrospectivo. Institución: Grupo PRANOR, Sede Monterrico, y Genomics Perú, Lima, Perú. Material biológico: Embriones humanos. Intervenciones: Análisis de los registros de 429 embriones estudiados con PGD por SNPs, embriones obtenidos de 105 ciclos de reproducción asistida, entre 2011 y 2013. Principales medidas de resultados: Aneuploidía de embriones, relación con edad materna y origen paterno o materno. Resultados: El 48,8% de embriones resultó normal, con tasa de aneuploidía de 51,2%. La proporción de embriones sanos varió de acuerdo a la edad de la madre, disminuyendo cuando la edad aumentaba. En todos los grupos etarios estudiados más de 66% de las aneuploidías fue de origen materno, incluyendo el grupo de ovodonación (OD). Conclusiones: El diagnóstico preimplantacional mediante SNPs tendría gran valor pronóstico y sería una herramienta útil para conocer el origen de las aneuploidías en los embriones de las pacientes que se someten a procedimientos de reproducción asistida.

Evaluation of Chromogenic In Situ Hybridization for the Determination of Monosomy 3 in Uveal Melanoma

2014 ◽  
Vol 138 (5) ◽  
pp. 664-670 ◽  
Author(s):  
Grainne Gleeson ◽  
Annemarie Larkin ◽  
Noel Horgan ◽  
Susan Kennedy
Keyword(s):  
Single Nucleotide Polymorphism ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Uveal Melanoma ◽  
Single Nucleotide Polymorphism Array ◽  
Chromosome 3 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chromogenic In Situ Hybridization

Context.—Loss of 1 copy of chromosome 3 is considered a significant indicator of metastatic dissemination in uveal melanoma. Fresh or paraffin-embedded tumor tissue is most commonly used for current cytogenetic techniques for determining chromosome 3 status in uveal melanoma and often requires referral to an external specialist laboratory for analysis. Objectives.—To assess the chromogenic in situ hybridization assay for detecting chromosome 3 alterations using frozen tumor imprints and to compare the results obtained with those obtained by standard fluorescence in situ hybridization or single-nucleotide polymorphism array techniques. Design.—Chromogenic in situ hybridization was performed on 52 frozen uveal melanoma tumor imprints. The genetic status of 26 of the 52 cases had been determined previously by fluorescence in situ hybridization (group 1); the status of 26 cases had been determined using single-nucleotide polymorphism array (group 2). Results.—Chromogenic in situ hybridization was successfully performed on 48 of 52 tumor imprints. Chromogenic in situ hybridization showed excellent agreement in all 24 cases determined by fluorescence in situ hybridization (100% concordance; κ = 1; P < .001; 95% confidence interval, 100%–100%), and disagreed in 4 of the 24 cases previously studied by single-nucleotide polymorphism array (83% concordance; κ = 0.67; P < .001; 95% confidence interval, 95%–39%). All 4 discordant cases were classified as disomic for chromosome 3 by chromogenic in situ hybridization and monosomic by SNP array. On histologic examination, the 4 discordant cases corresponded to 2 mixed cell tumors and 2 spindle cell tumors. Conclusions.—Chromogenic in situ hybridization using tumor imprints is a reliable technique for determining chromosome 3 status in uveal melanoma. Furthermore, it can also be easily integrated into a routine histopathology laboratory.

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