Search research articles

ACERCA DE JoVE

Visión General Liderazgo Blog Centro de Ayuda JoVE

AUTORES

Proceso de Publicación Consejo Editorial Alcance y Políticas Revisión por Pares Preguntas Frecuentes Enviar

BIBLIOTECARIOS

Testimonios Suscripciones Acceso Recursos Consejo Asesor de Bibliotecas Preguntas Frecuentes

INVESTIGACIÓN

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archivo

EDUCACIÓN

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Centro de Recursos para Profesores Sitio de Profesores

Términos y Condiciones de Uso

Política de Privacidad

Videos de Conceptos Relacionados

Mutations

Mutations

Mutations

Mutations

Overview of DNA Repair

Overview of DNA Repair

In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Overview of DNA Repair

Overview of DNA Repair

In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...

Spontaneous and Induced Mutations

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por

Same author

Association between body mass and hypotension in dogs under general anaesthesia.

The Journal of small animal practice·2023

Same author

The interacting brain: Dynamic functional connectivity among canonical brain networks dissociates cooperative from competitive social interactions.

NeuroImage·2023

Same author

Corrigendum to "GLOWORM-PARA: a flexible framework to simulate the population dynamics of the parasitic phase of gastrointestinal nematodes infecting grazing livestock" [Int. J. Parasitol. 50 (2020) 133-144].

International journal for parasitology·2021

Same author

Precision worm control in grazing lambs by targeting group treatment based on performance of sentinels.

Animal : an international journal of animal bioscience·2021

Same author

You took the words right out of my mouth: Dual-fMRI reveals intra- and inter-personal neural processes supporting verbal interaction.

NeuroImage·2021

Same author

The behavior of dairy cattle in the transition period: Effects of blood calcium status.

Journal of dairy science·2020

Search research articles

Video Experimental Relacionado

Updated: Jul 12, 2026

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

Secuencia de ADN inestable en la distrofia miotónica.

H G Harley¹, S A Rundle, W Reardon

¹Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

Lancet (London, England)

|May 9, 1992

Resumen

Los investigadores identificaron una secuencia de ADN variable vinculada a la distrofia miotónica. Este defecto molecular ayuda en el diagnóstico y el asesoramiento genético para las familias afectadas por este trastorno genético.

Más Videos Relacionados

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Published on: February 10, 2023

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle

Published on: December 22, 2023

Videos de Experimentos Relacionados

Last Updated: Jul 12, 2026

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

Published on: February 10, 2023

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle

Visualizing Single-Stranded DNA Foci in the G1 Phase of the Cell Cycle

Published on: December 22, 2023

Área de la Ciencia:

Genética La genética.
Biología Molecular Biología Molecular
Neurología Neurología.

Sus antecedentes:

La distrofia miotónica es un trastorno genético caracterizado por debilidad muscular y desgaste.
Se ha observado una secuencia de ADN variable en pacientes con distrofia miotónica.

Objetivo del estudio:

Para determinar si la identificación de un defecto molecular específico mejora el manejo clínico de la distrofia miotónica.
Para investigar la correlación entre la expansión de la secuencia de ADN y la gravedad de la enfermedad.

Principales métodos:

Estudió a 127 pacientes con distrofia miotónica y 73 controles sanos.
Analizó fragmentos de ADN para detectar y medir la secuencia de ADN variable.

Principales resultados:

Se encontró un fragmento de ADN expandido en todos los pacientes afectados, pero no en los controles.
El aumento en la longitud del fragmento de ADN se correlacionó con la gravedad de la enfermedad.
La expansión de la secuencia se observó en generaciones sucesivas dentro de las familias, lo que explica la anticipación.

Conclusiones:

La identificación de este defecto específico del ADN ayuda en el diagnóstico preciso de la distrofia miotónica.
Este hallazgo apoya una secuencia de repetición inestable como la base del defecto.
Los resultados ayudarán en el asesoramiento genético para las familias afectadas.