Biologia molecular

TRABAJO DE INESTIGACIÓN
BIOLOGÍA MOLECULAR

TEMA: PAPERS DE VARIACIÓN POLIMÓRFICA
DR: NANCIBEL MANRIQUE
ESTUDIANTE: GISSELL PADILLA RIZZO
GRUPO: 15
2014-2015


PAPER 1
Genotyping technologies: application to biotransformation enzyme genetic polymorphism screening.
Romkes M1, Buch SC.
Author information
Abstract

Pharmacogenomics encompasses several major areas: thestudy of polymorphic variations to drug response and disease susceptibility, identification of the effects of drugs/xenobiotics at the genomic level, and genotype/phenotype associations. The most common type of human genetic variations is single-nucleotide polymorphisms (SNPs). Several novel approaches to detection of SNPs are currently available. The range of new methods includes modifications ofseveral conventional techniques such as PCR, mass spectrometry, and sequencing as well as more innovative technologies such as fluorescence resonance energy transfer and microarrays. The application of each of these techniques is largely dependent on the number of SNPs to be screened and sample size. The current chapter presents an overview of the general concepts of a variety of genotypingtechnologies with an emphasis on the recently developed methodologies, including a comparison of the advantages, applicability, cost efficiency, and limitations of these methods.

TRADUCCION
Tecnologías de genotipado: aplicación a la biotransformación enzimática cribado polimorfismo genético.
Romkes M1, Buch SC.
Datos del autor
Abstracto

Farmacogenómica abarca varias áreas principales: el estudio delas variaciones polimórficas para la respuesta al fármaco y la susceptibilidad a enfermedades, la identificación de los efectos de drogas / xenobióticos a nivel genómico, y las asociaciones genotipo / fenotipo. El tipo más común de las variaciones genéticas humanas es polimorfismos de un solo nucleótido (SNP). Varios enfoques novedosos para la detección de SNPs están disponibles actualmente. La gamade nuevos métodos incluye modificaciones de varias técnicas convencionales tales como PCR, espectrometría de masas y secuenciación, así como tecnologías más innovadoras tales como la transferencia de energía de resonancia de fluorescencia y microarrays. La aplicación de cada una de estas técnicas depende en gran medida el número de SNPs que se proyectarán y tamaño de la muestra. El capítuloactual presenta una visión general de los conceptos generales de una variedad de tecnologías de genotipado con un énfasis en las metodologías desarrolladas recientemente, incluyendo una comparación de las ventajas, la aplicabilidad, la eficiencia de costes, y las limitaciones de estos métodos.


PAPER 2
Sequence based polymorphic (SBP) marker technology for targeted genomic regions: its application ingenerating a molecular map of the Arabidopsis thaliana genome.
Sahu BB1, Sumit R, Srivastava SK, Bhattacharyya MK.
Author information
Abstract

BACKGROUND:
Molecular markers facilitate both genotype identification, essential for modern animal and plant breeding, and the isolation of genes based on their map positions. Advancements in sequencing technology have made possible the identification ofsingle nucleotide polymorphisms (SNPs) for any genomic regions. Here a sequence based polymorphic (SBP) marker technology for generating molecular markers for targeted genomic regions in Arabidopsis is described.
RESULTS:
A ~3X genome coverage sequence of the Arabidopsis thaliana ecotype, Niederzenz (Nd-0) was obtained by applying Illumina's sequencing by synthesis (Solexa) technology. Comparisonof the Nd-0 genome sequence with the assembled Columbia-0 (Col-0) genome sequence identified putative single nucleotide polymorphisms (SNPs) throughout the entire genome. Multiple 75 base pair Nd-0 sequence reads containing SNPs and originating from individual genomic DNA molecules were the basis for developing co-dominant SBP markers. SNPs containing Col-0 sequences, supported by transcript...