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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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 Screens02:46

Genetic Screens

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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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Comparing Copy Number Variations and SNPs02:26

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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.
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%...
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Incomplete Dominance01:43

Incomplete Dominance

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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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Mutation, Gene Flow, and Genetic Drift01:09

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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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相关实验视频

Updated: Sep 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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阿拉伯人口中罕见疾病的病原性变异:对查计划的影响

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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概括

在阿拉伯人口中引起罕见疾病的遗传变异还未得到充分研究. 这项研究确定了关键的遗传变异和携带者率,以改善这一群体中衰退性疾病的查.

关键词:
血缘关系外体序列化遗传变异中东地区罕见的遗传疾病

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相关实验视频

Last Updated: Sep 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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科学领域:

  • 遗传学
  • 人口健康
  • 医学基因组学

背景情况:

  • 阿拉伯人口中罕见疾病的遗传变异不太清楚.
  • 阿拉伯人口的高血缘关系增加了衰退性疾病的流行率.
  • 有限的数据阻碍了对遗传疾病的有效查策略.

研究的目的:

  • 鉴定和描述阿拉伯阿联家庭的致病性 (P) 和可能致病性 (LP) 变体.
  • 计算阿联人口中衰退状况的等位基因频率和估计载体率.
  • 为开发针对罕见疾病的携带者查计划提供信息.

主要方法:

  • 来自1333个阿拉伯阿联家庭的P/LP变体 (内部队列和文献).
  • 美国医学遗传学和基因组学学院/分子病理学协会的变种分类指南.
  • 在1194个阿联外体中分析了P/LP变异,以确定等位基因频率和载体率.

主要成果:

  • 在1060个家族中确定了701个P/ LP变异; gnomAD中缺少52%的变异,ClinVar中缺少30%.
  • 其中CYP21A2的携带率最高 (10.6%),其次是HBB (9.6%),MEFV (5.9%) 和ABCA4 (4.3%).
  • 根据临时查基因清单, 估计风险夫妇的比例在4%至21%之间.

结论:

  • 强调需要在代表性不足的人群中识别流行疾病,以便开展公共卫生倡议.
  • 强调制定公平预防措施的重要性,包括婚前查.
  • 突显了特定群体遗传数据对于有效的载体查的有用性.