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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.
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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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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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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.
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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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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Updated: Sep 9, 2025

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La variación patógena subyacente a las enfermedades raras en una población árabe: implicaciones para los programas de

Ruchi Jain1, Sami Bizzari2, Sathishkumar Ramaswamy1

  • 1Dubai Health Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates.

Genetics in medicine open
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Resumen

Las variaciones genéticas que causan enfermedades raras en las poblaciones árabes son poco estudiadas. Esta investigación identifica las principales variantes genéticas y las tasas de portadores para mejorar la detección de trastornos recesivos en este grupo demográfico.

Palabras clave:
ConsanguinidadSecuenciación del exomaVariación genéticaEl Medio OrienteEnfermedades genéticas raras

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Área de la Ciencia:

  • La genética
  • Salud de la población
  • La genómica médica

Sus antecedentes:

  • La variación genética en enfermedades raras dentro de las poblaciones árabes es poco conocida.
  • Las altas tasas de consanguinidad en las poblaciones árabes aumentan la prevalencia de trastornos recesivos.
  • Los datos limitados obstaculizan las estrategias efectivas de detección de portadores de enfermedades genéticas.

Objetivo del estudio:

  • Identificar y caracterizar las variantes patógenas (P) y probables patógenas (LP) en las familias de los Emiratos Árabes.
  • Para calcular las frecuencias de alelos y estimar las tasas de portadores de enfermedades recesivas en la población emiratí.
  • Informar sobre el desarrollo de programas de cribado de portadores de enfermedades raras.

Principales métodos:

  • Variantes seleccionadas de P / LP de 1333 familias árabes de los Emiratos Árabes Unidos (cohorte interno y literatura).
  • Guías del Colegio Americano de Genética Médica y Genómica/Asociación para la Patología Molecular para la clasificación de variantes.
  • Se analizaron las variantes P / LP en 1194 exomas emiratíes para determinar las frecuencias de alelos y las tasas de portadores.

Principales resultados:

  • Se identificaron 701 variantes P/LP en 1060 familias; el 52% estaban ausentes en gnomAD y el 30% en ClinVar.
  • El CYP21A2 mostró la tasa de portadores más alta (10,6%), seguido por el HBB (9,6%), el MEFV (5,9%) y el ABCA4 (4,3%).
  • Se estima que la tasa de parejas en riesgo oscila entre el 4% y el 21% según una lista de genes de detección provisional.

Conclusiones:

  • Hace hincapié en la necesidad de identificar las enfermedades prevalentes en las poblaciones subrepresentadas para las iniciativas de salud pública.
  • Hace hincapié en la importancia de desarrollar medidas preventivas equitativas, incluida la detección prematrimonial.
  • Subraya la utilidad de los datos genéticos específicos de la población para la detección eficaz de portadores.