Video Experimental Relacionado

Updated: Jan 31, 2026

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model

Published on: April 3, 2016

Informe de caso: Prevención de la transmisión de la retinosquisis ligada al cromosoma X mediante PGT-M basado en

Jieliang Li¹, Xiaojun Wen¹, Zhanhui Ou¹

¹Reproductive Center, Zhongshan Boai Hospital, Zhongshan, Guangdong, China.

Frontiers in ophthalmology

|January 30, 2026

Resumen

Las pruebas genéticas preimplantacionales para enfermedades monogénicas (PGT-M) previnieron con éxito la transmisión de la retinosquisis ligada al cromosoma X (XLRS). Estas pruebas genéticas identificaron embriones sanos, permitiendo a una familia tener un hijo no afectado, lo que demuestra la eficacia de la PGT-M.

Área de la Ciencia:

Oftalmología
Genética
Medicina Reproductiva

Sus antecedentes:

La retinosquisis ligada al cromosoma X (XLRS) es una enfermedad hereditaria de la retina causada por mutaciones en el gen RS1, que provoca deterioro de la visión.
Una familia con antecedentes de XLRS buscó prevenir la transmisión de la variante patogénica RS1 a las generaciones futuras.
Las generaciones anteriores experimentaron deterioro visual bilateral y metamorfopsia debido a la afección.

Objetivo del estudio:

Describir la aplicación exitosa de las pruebas genéticas preimplantacionales para enfermedades monogénicas (PGT-M) en la prevención de la transmisión de XLRS.
Demostrar la eficacia de una estrategia integrada de PGT-M para familias con trastornos genéticos ligados al cromosoma X.

Principales métodos:

Se utilizaron la secuenciación de próxima generación (NGS) y la secuenciación de Sanger para identificar la mutación específica c.187T>C (p. Cys63Arg) del RS1 en la familia.
Se empleó la plataforma Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) para PGT-M.
MARSALA implicó amplificación de genoma completo (MALBAC), NGS, análisis de haplotipos de SNP y cribado de variación del número de copias (CNV) de blastocistos biopsiados.

Principales resultados:

Se analizaron ocho blastocistos, identificando tres embriones euploides libres de la mutación familiar RS1.
El asesoramiento genético y la transferencia de un blastocisto euploide de alta calidad (E1, 6AA) resultaron en un embarazo clínico.
La amniocentesis de mitad de trimestre confirmó un cariotipo masculino normal y la ausencia de la variante RS1, lo que llevó al nacimiento de un bebé sano.

Conclusiones:

La estrategia integrada de PGT-M basada en MARSALA es eficaz para prevenir la transmisión intergeneracional de trastornos ligados al cromosoma X como la XLRS.
Este enfoque permite a las familias con riesgos genéticos concebir descendencia sana.

Palabras clave:

RS1 retinosquisis ligada al cromosoma X marsala secuenciación de próxima generación pruebas genéticas preimplantacionales

Más Videos Relacionados

Quaternary Structure Modeling Through Chemical Cross-Linking Mass Spectrometry: Extending TX-MS Jupyter Reports

Quaternary Structure Modeling Through Chemical Cross-Linking Mass Spectrometry: Extending TX-MS Jupyter Reports

Published on: October 20, 2021

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Videos de Conceptos Relacionados

Covalently Linked Protein Regulators

Covalently Linked Protein Regulators

Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein....

Transmission-based Precautions II: Airborne and Protective Environment

Transmission-based Precautions II: Airborne and Protective Environment

Transmission-based precautions are for patients infected or suspected to be infected (or colonized) with organisms posing a significant risk to others. The transmission precautions include airborne and protective environment precautions.
Airborne precautions:
Use airborne precautions when treating patients known or suspected to have diseases that spread through the air—for example, tuberculosis or measles. These organisms are present in smaller droplets expelled by an infected person and...

Transmission-based Precautions I: Contact, Enteric, and Droplets

Transmission-based Precautions I: Contact, Enteric, and Droplets

Transmission-based precautions are for patients known to be infected or suspected to be infected or colonized with organisms that pose a significant risk to others. Some transmission-based precautions include contact, enteric, and droplet.
Contact Precautions:
Contact precautions are the measures taken to prevent the transmission of infectious agents, especially epidemiologically important microorganisms such as MRSA or influenza, primarily transmitted through direct or indirect contact with an...

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Cancer Prevention

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.