Video Experimental Relacionado

Updated: Feb 12, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Generación de materiales de referencia de cuarteto para pruebas genéticas de preimplantación para reordenamientos

Nan Sun¹, Wenxin Zhang¹, Dandan Yu²

¹National Institutes for Food and Drug Control, Dongcheng District tiantanxili 2#, Beijing, 100050, China.

|February 10, 2026

Resumen

Este estudio desarrolló materiales de referencia renovables para pruebas genéticas de preimplantación para reordenamientos estructurales (PGT-SR). Estos materiales aseguran la garantía de calidad y las pruebas de competencia para una selección precisa de embriones en la reproducción asistida.

Área de la Ciencia:

Genética La genética.
La Medicina Reproductiva es una de ellas.
La bioinformática es la bioinformática.

Sus antecedentes:

Las pruebas genéticas de preimplantación para reordenamientos estructurales (PGT-SR) son cruciales para seleccionar embriones cromosómicamente normales.
Existe una necesidad significativa de materiales de referencia confiables para desarrollar y validar los métodos PGT-SR.

Objetivo del estudio:

Diseñar y producir un panel nuevo y renovable de materiales de referencia para PGT-SR.
Establecer un marco de garantía de calidad para los ensayos PGT-SR.

Principales métodos:

Desarrolló una estrategia utilizando familias cuarteto de reorganizaciones estructurales para crear RM renovables.
Creó un panel de RMs que incluye translocaciones recíprocas, translocaciones robertsonianas, inversiones y familias normales.
RMs caracterizadas utilizando ADN y células clasificadas, validadas por laboratorios voluntarios utilizando varias plataformas de secuenciación.

Principales resultados:

Desarrolló con éxito un panel de RM cuarteto para PGT-SR de 13 familias genéticas diversas.
Se logró una precisión y especificidad del 100% en la caracterización de RM en múltiples laboratorios y plataformas de secuenciación.
Demostró la superioridad de la secuenciación del genoma de larga lectura sobre la de lectura corta para reordenamientos estructurales complejos.

Conclusiones:

El cuarteto desarrollado de RM para PGT-SR está bien caracterizado, es renovable y accesible, vital para el aseguramiento de la calidad.
La metodología apoya las pruebas de competencia y mejora la precisión de la detección de reordenamientos estructurales.
Los métodos adaptables prometen una aplicación más amplia en las pruebas genéticas de preimplantación, avanzando la reproducción asistida.

Palabras clave:

Líneas celulares inmortalizadas.La secuenciación de nanoporos.PGT-SR para el sector privado.Cuarteto de la familia de los cuartetos.Los materiales de referencia son materiales de referencia.El WGS es un sistema de WGS.

Más Videos Relacionados

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Quasistatic Mechanical Testing for Computer-Aided Design and Manufacturing Occlusal Veneers Cemented to Milled Dentin Analog Material

Quasistatic Mechanical Testing for Computer-Aided Design and Manufacturing Occlusal Veneers Cemented to Milled Dentin Analog Material

Published on: December 20, 2024

Videos de Conceptos Relacionados

Genetic Material

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.

[3,3] Sigmatropic Rearrangement of 1,5-Dienes: Cope Rearrangement

[3,3] Sigmatropic Rearrangement of 1,5-Dienes: Cope Rearrangement

The Cope rearrangement is classified as a [3,3] sigmatropic shift in 1,5-dienes, leading to a more stable, isomeric 1,5-diene. The reaction involves a concerted movement of six electrons, four from two π bonds and two from a σ bond, via an energetically favorable chair-like transition state.

[3,3] Sigmatropic Rearrangement of Allyl Vinyl Ethers: Claisen Rearrangement

[3,3] Sigmatropic Rearrangement of Allyl Vinyl Ethers: Claisen Rearrangement

The Claisen rearrangement is a [3,3] sigmatropic rearrangement of allyl vinyl ethers to unsaturated carbonyl compounds. The rearrangement is a concerted pericyclic reaction proceeding via a chair-like transition state.

Types of Genetic Transfer Between Organisms

Types of Genetic Transfer Between Organisms

Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.

What is Population Genetics?

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.

Preparation of Diols and Pinacol Rearrangement

Preparation of Diols and Pinacol Rearrangement

Compounds bearing two hydroxyl groups are known as diols. When the hydroxyl groups are located on adjacent carbon atoms, the diols are called vicinal diols or glycols. Under acidic conditions, vicinal diols undergo a specific reaction called pinacol rearrangement.
The reaction begins with transferring a proton from the acid catalyst to one of the hydroxyl groups, producing an oxonium ion.