Cuantificación de la contribución de la variación de codificación recesiva a los trastornos del desarrollo
Contact us if these videos are not relevant.
Contact us if these videos are not relevant.
Ver abstracta en PubMed
Resumen
Este resumen es generado por máquina.Las variantes de codificación recesiva contribuyen mínimamente a los trastornos del desarrollo en la mayoría de las familias, pero son significativas en las poblaciones consanguíneas. Se identificaron nuevos genes como KDM5B y EIF3F, lo que pone de relieve la necesidad de una mayor investigación genética.
Área De La Ciencia
- La genética
- La genómica
- Biología del desarrollo
Sus Antecedentes
- Las variaciones genéticas recesivas juegan un papel en las enfermedades hereditarias.
- Comprender la contribución de diferentes tipos de variantes genéticas es crucial para el diagnóstico de trastornos del desarrollo.
Objetivo Del Estudio
- Estimar la contribución de la variación de codificación recesiva en todo el genoma a los trastornos del desarrollo.
- Identificar nuevos genes asociados con trastornos del desarrollo recesivo.
Principales Métodos
- Análisis de datos de todo el genoma de 6040 familias en el estudio Descifrando trastornos del desarrollo.
- Identificación y validación funcional de genes candidatos utilizando modelos celulares y de ratón.
Principales Resultados
- Las variantes de codificación recesiva representaron el 3,6% de los casos en pacientes de ascendencia europea, frente al 50% de las mutaciones de novo.
- En pacientes con ascendencia paquistaní, las variantes recesivas explicaron el 31% de los casos debido a una mayor autocigosidad.
- Se identificaron y validaron funcionalmente dos nuevos genes, KDM5B y EIF3F.
Conclusiones
- Las variantes de codificación recesiva representan una pequeña fracción de las causas genéticas en individuos no consanguíneos no diagnosticados.
- Se justifica una mayor investigación sobre las variantes no codificantes, la penetración incompleta y los mecanismos poligénicos.
- El estudio identificó nuevos contribuyentes genéticos a los trastornos del desarrollo recesivo.
Contact us Si estos videos no son relevantes.
Contact us Si estos videos no son relevantes.
Videos de Conceptos Relacionados
Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
Alfred Binet, along with his student Théophile Simon, was tasked by the French Ministry of Education in 1904 to create a method for identifying students who struggled to learn through conventional classroom instruction. This initiative aimed to address overcrowding by placing such students in specialized schools. Binet and Simon developed an intelligence test comprising 30 tasks, ranging from simple commands, like touching one's nose or ear, to more complex tasks, such as drawing...
The Nursing Code of Ethics sets the ethical benchmark for the profession, and guides nurses in ethical analysis and decision making at the societal, organizational, and clinical levels. The code encompasses showing compassion and respect for the patient, their families, and communities in all circumstances while committing to providing patient-centered care. In addition, the code states that nurses must advocate for the patient by defending a cause or recommendation to protect their rights,...
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...