還元表現ショットガン配列によるヒトゲノムのSNPマップ
D Altshuler1, V J Pollara, C R Cowles
1Whitehead Institute/MIT Center for Genome Research, Cambridge, Massachusetts 02142, USA.
Nature
|October 12, 2000
まとめ
縮小表現ショットガン (RRS) 配列化は,単一ヌクレオチドポリモルフィズム (SNP) マップを作成するための強力な方法です. このアプローチは,病気や人口の歴史を理解するために不可欠な遺伝的変異の発見を加速します.
科学分野:
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
- 人口遺伝学 人口遺伝学
背景:
- シングルヌクレオチドポリモルフィズム (SNP) はゲノム変異の主要な源であり,疾患の遺伝子追跡と人口史のための高解像度を提供します.
- ヒトゲノムをスキャンして,一般的な疾患に関連するハプロタイプを特定するために,30,000〜500,000SNPの密度の高い地図を提案しています.
研究 の 目的:
- 新しく効率的な方法である,SNPマップを作成するための,減少表現ショットガン (RRS) シーケンシングについて説明します.
- 大量のヒトSNPを発見する際にRRS配列の有用性を実証する.
主な方法:
- 減少表現ショットガン (RRS) 配列化は,複数の個体から特定のゲノムサブセットの再サンプリングを含む.
- 配列は,非常に正確なSNP検出アルゴリズムを使用して比較されます.
- 入手可能なゲノム配列との調整は,SNPの収量を増やし,地図上の位置を提供します.
主要な成果:
- この研究では,SNPマップ作成のためのRRSシーケンシング方法について説明しています.
- RRSシーケンシングを用いて47,172個のヒトSNPが発見されました.
- SNPコンソーシアムは,これらの方法を使用して合計148,459のSNPを特定しました.
結論:
- RRSシーケンシングは,様々な種のSNPマップを構築するための迅速で,安価で,効果的な方法です.
- RRSで発見されたSNPは,大規模なゲノタイプ化と遺伝子研究に重要な利点を提供します.
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