Video Experimental Relacionado

Updated: Apr 4, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

¿La variación en el número de copias del grupo de genes de la defensina beta humana está asociada con el nacimiento

Catherine James¹, Razan Abujaber², Mona Bajaj-Elliott³

¹Research Department of Maternal and Fetal Medicine, Institute for Women's Health, University College London, London, UK; Infection, Immunity, Inflammation and Physiological Medicine, Institute of Child Health, University College London, London, UK.

Lancet (London, England)

|August 28, 2015

Resumen

La variación del número de copias en el gen DEFB4A, que influye en los niveles humanos de beta-defensina 2 (HBD2), no se asoció con el riesgo de nacimiento prematuro. Este estudio no encontró correlación entre el número de copias de DEFB y la concentración de HBD2 en el inicio del embarazo.

Área de la Ciencia:

Biología de la reproducción
La genética
Inmunología

Sus antecedentes:

El aumento de la expresión de beta-defensina humana (HBD) está relacionado con el parto prematuro.
La HBD2 sérica del primer trimestre está elevada en las mujeres que dan a luz prematuramente.
El gen DEFB4A, que codifica HBD2, exhibe variación en el número de copias.

Objetivo del estudio:

Investigar la asociación entre la variación del número de copias de DEFB y el riesgo de nacimiento prematuro.
Para determinar si el número de copias DEFB se correlaciona con los niveles séricos de HBD2 en el primer trimestre.

Principales métodos:

Estudio retrospectivo de casos y controles en mujeres europeas blancas (entre 11 y 13 semanas de gestación).
Número de copia DEFB determinado por el ensayo de relación parálogo.
Concentración sérica de HBD2 medida por ELISA; datos analizados mediante correlación y regresión logística.

Principales resultados:

No se encontró asociación entre el número de copias de DEFB y el nacimiento prematuro.
No se observó correlación entre el número de copias de DEFB y la concentración sérica de HBD2.
La concentración mediana de HBD2 fue de 761,5 pg/ ml en la cohorte estudiada.

Conclusiones:

La variación del número de copias DEFB no es un predictor del nacimiento prematuro.
La falta de correlación entre el número de copias DEFB y HBD2 puede deberse a variaciones en las secuencias reguladoras.
La expresión de la proteína HBD2 en el primer trimestre justifica una mayor investigación para la predicción del parto prematuro.

Más Videos Relacionados

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Videos de Conceptos Relacionados

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Development of Human Microbiota

Development of Human Microbiota

The human microbiota begins developing at birth and undergoes continual change as we age. Infancy marks a critical period of microbial sensitivity, offering a “window of opportunity” during which beneficial microbes help mature the immune system. By age three, children typically develop a more stable and diverse microbial community. Newborns acquire microbes from their immediate environment; vaginal delivery favors maternal vaginal microbes, while cesarean births favor microbes from...

Genome Copying Errors

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Probability Laws

Probability Laws