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相关概念视频

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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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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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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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genome-wide Association Studies-GWAS01:11

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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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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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SLC19A1 基因多态化; 孕前的危险因素

Iram Nasir1, Amena Rahim1, Muhammad Afzal1

  • 1Department of Biochemistry, Islamic International Medical College, Riphah International University, Rawalpindi, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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PubMed
概括
此摘要是机器生成的。

SLC19A1 (rs1051296 G>T) 多态性与巴基斯坦妇女的孕前风险有关. 特定的基因型 (CA和AA) 增加了易感性,而CC基因型提供了保护,低叶酸会加剧风险.

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科学领域:

  • 遗传学 是一个遗传学.
  • 产科 产科 产科 产科 产科
  • 生物化学 生物化学

背景情况:

  • 孕前 (PE) 是一种严重的妊娠并发症,其特点是高血压.
  • 遗传因素,包括单核酸多态 (SNP),在PE易感性中发挥作用.
  • SLC19A1基因参与叶酸运输,对孕期母亲健康至关重要.

研究的目的:

  • 在巴基斯坦的孕妇中调查SLC19A1 (rs1051296 G>T) 多态的基因型和等位基因频率. 在巴基斯坦的孕妇中调查SLC19A1 (rs1051296 G>T) 多态的基因型和等位基因频率.
  • 确定SLC19A1 (rs1051296 G>T) 基因型与前症患者的同类氨酸 (Hcy) 和叶酸水平之间的关联.
  • 评估这种多形态的临床意义,在孕前的背景下.

主要方法:

  • 一项病例对照研究,涉及166名孕前患者和166名对照患者.
  • 使用Chelex方法从母亲静脉血液中提取DNA.
  • 使用基因特异性聚合酶链反应 (PCR) 分析SLC19A1 (rs1051296 G>T) 多态.
  • 使用奇平方和学生t测试进行统计分析.

主要成果:

  • SLC19A1的CA和AA基因型 (rs1051296 G>T) 与患孕前的易感性增加显著相关 (分别p <0.03和p <0.001).
  • CC基因型显示出与孕前有显著的保护性关联.
  • 低叶酸水平与CA基因型相结合,成为PE的重要危险因素 (p <0.05).
  • 在先前的高血压家族病史和SLC19A1多态 (p <0.6) 之间没有发现显著的关联.

结论:

  • 在巴基斯坦人口中,SLC19A1 (rs1051296 G>T) 多态是孕前的重要危险因素.
  • 基因型变异影响PE易感性和保护.
  • 叶酸状况与SLC19A1基因型相互作用,调节PE风险.