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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...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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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,...
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Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
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El estudio del genoma supone un "salto cuántico" en la explicación de la tartamudez

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    El análisis genético de los datos de los usuarios de 23andMe revela variantes genéticas específicas asociadas con la función cerebral y un sentido natural del ritmo. Estos hallazgos ofrecen información sobre los fundamentos biológicos de la coordinación auditivo-motora.

    Área de la Ciencia:

    • La genética y la neurociencia

    Sus antecedentes:

    • Investigando la base genética de rasgos humanos complejos como la percepción del ritmo.
    • Utilización de conjuntos de datos genéticos a gran escala de los servicios de pruebas genéticas directas al consumidor.

    Objetivo del estudio:

    • Investigar posibles variantes genéticas asociadas con el sentido del ritmo.
    • Explorar la relación entre estas variantes genéticas y los genes que se sabe que influyen en la función cerebral.

    Principales métodos:

    • Análisis de datos genéticos anónimos de una gran cohorte de usuarios de 23andMe.
    • Utilización de estudios de asociación de todo el genoma (GWAS) para identificar marcadores genéticos significativos.
    • Correlación de variantes genéticas identificadas con genes implicados en las vías neurológicas y el procesamiento auditivo.

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    Principales resultados:

    • Identificó variantes genéticas específicas asociadas significativamente con el sentido del ritmo.
    • Estas variantes se encuentran en o cerca de genes previamente relacionados con el desarrollo y la función del cerebro.
    • Se encontró una notable superposición entre los genes que influyen en la percepción del ritmo y los que afectan a las capacidades cognitivas generales.

    Conclusiones:

    • Las variaciones genéticas juegan un papel en el sentido del ritmo de un individuo.
    • Los hallazgos sugieren un posible vínculo genético entre el procesamiento auditivo, específicamente la percepción del ritmo, y aspectos más amplios de la función cerebral.
    • Se requiere más investigación para dilucidar los mecanismos precisos por los que estos genes influyen en estos rasgos.