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What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Ethics in Research01:56

Ethics in Research

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Today, scientists agree that good research is ethical in nature and is guided by a basic respect for human dignity and safety. However, this has not always been the case. Modern researchers must demonstrate that the research they perform is ethically sound.
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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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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
138
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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Working with Human Tissues for Translational Cancer Research
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遺伝学を含む集団ベースの研究のための情報に基づいた同意

L M Beskow1, W Burke, J F Merz

  • 1Office of Genetics and Disease Prevention, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, MS K-28, Atlanta, GA 30341-3724, USA. laura_beskow@unc.edu

JAMA
|November 17, 2001
PubMed
まとめ

遺伝子研究のためのガイドラインを策定することは極めて重要です. このアプローチは,参加者が集団研究における遺伝的多様性によるリスクと利益を理解することを保証します.

キーワード:
生物医学および行動研究遺伝学と生殖について

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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科学分野:

  • 遺伝学 遺伝学とは
  • バイオエシック バイオエシック
  • 公衆衛生は公衆衛生である.

背景:

  • 集団ベースの遺伝子研究は,家族ベースの研究とは異なる特定の倫理的指針を必要とします.
  • 遺伝子変種と遺伝子環境相互作用を理解することは,疾患リスク予測の鍵です.
  • 低浸透性の遺伝子変異は,遺伝子研究においてユニークな考慮事項を提示します.

研究 の 目的:

  • 人口ベースの遺伝子研究のための情報に基づいた同意のアプローチを開発する.
  • 遺伝子変異データを研究に統合するためのガイドラインの必要性を解決する.
  • 遺伝学研究の参加者に情報に基づいた意思決定を容易にする.

主な方法:

  • 疾病管理予防センターで多学科グループを招集した.
  • 専門家の意見,連邦法令,既存の倫理報告書と文献を活用した.
  • インフォームド・コンセント文書と補足用ブローチャーのための提案された言語を開発しました.

主要な成果:

  • 結果の解釈と健康上のアウトカムとの関連性を強調するインフォームド・コンセント・フレームワークを作成しました.
  • 同意プロセスは,実行可能な,証拠に基づいた介入を生み出す可能性を評価することを提案しました.
  • 参加者の理解を助けるため,同意書とパンフレットのための生成された言語.

結論:

  • 提案された情報に基づいた同意アプローチは,遺伝子研究における参加者の理解を向上させることを目的としています.
  • 集団遺伝学における情報に基づいた同意に関するベストプラクティスの議論を奨励する.
  • 遺伝子研究倫理に関する研究スポンサー,IRB,研究者の検討を図る.