関連する実験動画
Updated: May 5, 2026

13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
41.3K
30万以上のSNPの第2世代のヒトハプロタイプマップです
1, Kelly A Frazer, Dennis G Ballinger
1The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.
Nature
|October 19, 2007
まとめ
第2段階のハップマップは,多様な集団における310万件以上のヒト単核酸多形態 (SNP) を詳細に示し,全ゲノム関連研究における割り算の精度を向上させ,遺伝的多様性と結合不均衡の洞察を明らかにしています.
科学分野:
- 人間の遺伝学 人間の遺伝学
- 人口遺伝学 人口遺伝学
- ゲノミクスゲノミクスとは
背景:
- 国際ハップマッププロジェクトは,ヒトの遺伝的多様性のグローバルなパターンを特徴づけることを目的としています.
- シングル・ヌクレオチド・ポリモルフィズム (SNP) の分布を理解することは,遺伝的関連研究にとって極めて重要です.
研究 の 目的:
- ヒトの遺伝的多様性に関する包括的なリソースである第2段階のHapMapを記述します.
- HapMapの有用性を推定および全ゲノム関連研究 (GWAS) に評価する.
- 結合不均衡 (LD) の構造と自然選択のパターンを調査する.
主な方法:
- 4つの多様な集団から270人の個人で310万以上のSNPの遺伝子タイプ化.
- 共通変異とLDを特徴付けるSNPデータの分析.
- 商用ゲノタイプ化プラットフォームを用いた推定精度の評価.
- 再結合率と集団の差異化に関する検討.
主要な成果:
- 第2段階のHapMapは,一般的なSNPの変動の25〜35%を捉え,r2の推定値は0.96.2までである.
- 商業用ゲノタイピング製品は,個体群によって捕獲効率が異なる (アフリカ人の場合0.8,非アフリカ人の場合0.95).
- 最近の祖先による集団内で有意なLDが存在し,再結合ホットスポットのためにいくつかの一般的な変種はタグ付けできません.
- 再結合率は遺伝子の位置と機能と関連しており,非同義的なSNPは分化が増加し,選択を示唆しています.
結論:
- Phase II HapMapは,GWASの割り算の精度を大幅に高めています.
- この地図は,LDの構造,再結合パターン,そして人間の遺伝的多様性に対する自然選択の影響に関する新しい洞察を提供します.
- この資源は,遺伝子研究を進め,人間の多様性を理解するために不可欠です.
関連する概念動画
Karyotyping
49.3K
Overview
49.3K
Synteny and Evolution
2.9K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
2.9K
Comparing Copy Number Variations and SNPs
11.6K
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%...
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%...
11.6K
Single Nucleotide Polymorphisms-SNPs
14.6K
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,...
14.6K
Genome-wide Association Studies-GWAS
12.6K
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...
GWAS does not require the identification of the target gene involved in...
12.6K
Human Genetics
2.0K
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...
The complex relationship between genetics and psychology is observable through common biological components such...
2.0K

