1q21.1のコピー数の変動は,神経芽細胞腫と関連している
Sharon J Diskin1, Cuiping Hou, Joseph T Glessner
1Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, USA.
Nature
|June 19, 2009
まとめ
共同複製数変異 (CNVs) は,神経芽細胞腫のリスクと関連しています. 染色体1q21.1の特定のCNVが,この小児がんの遺伝的リスク因子として特定されました.
科学分野:
- 遺伝学 遺伝学とは
- がん研究 がん研究
- 人間の分子遺伝学
背景:
- 複製数変異 (CNVs) は遺伝的多様性に貢献しますが,疾患の感受性,特にヒトの癌におけるその役割は完全に理解されていません.
- 幼児期の癌であるニューロブラストーマは,単一の核性otide ポリモルフィズム変異によって影響される知られた感受性を持っています.
研究 の 目的:
- 共同複製数変異 (CNVs) と神経芽細胞腫に対する感受性との関連を調査する.
- ゲノム全体の関連研究を通じて,神経芽細胞腫のリスクに影響を与える特定のCNVを特定する.
主な方法:
- 神経芽細胞腫の846例と803例の対照群におけるCNVの全ゲノム関連研究.
- 2つの独立したセットでの発見の複製 (595例,3,357対照).
- 定量PCR,FISH,腫瘍サンプル分析,親子トリオにおける遺伝性評価を用いた検証.
主要な成果:
- 染色体1q21.1の共通のCNVは,発見および複製セットにおける神経芽細胞腫のリスクと有意に関連していました.
- このCNVは検証され,遺伝性であることが確認されました.
- CNV内の新しいトランスクリプト,NBPF23が特定され,胎児の神経組織における好ましい発現を示し,CNVの状態と相関しています.
結論:
- 1q21.1の遺伝複製数の変動は,神経芽細胞腫の感受性に関連しています.
- 新しく特定されたNBPF23遺伝子は,この小児がんの早期腫瘍発生に役割を果たしています.
関連する概念動画
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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.
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