A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events
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林特任教授らの研究グループは、大学院医学研究院 和氣德夫教授との共同研究で、胞状奇胎の多くが本質的に半数体（ハプロイド）であることに着目し、日本産婦人科学会の協力を得て日本各地から胞状奇胎試料約100 個を収集し、これらから得られたDNA をDMA 実験によって解析しました。この結果、85 組の日本人ゲノムについて合計730万のSNPと約6,800のCNV（ゲノム当たりでは約86万のSNP と約800 のCNV）を検出して、それぞれのゲノムでのこれらの多型に関する正確なハプロタイプを決定しました。またこの結果から、CNV は遺伝的にその長さが変わり易いことを発見しました。この成果は今後我が国における種々の疾患や体質の遺伝的背景を解明するための重要な情報基盤となるものです。(2010.05.28九州大学プレスリリース）The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) as all of the genetic variants in a CHM genome are homozygous. Here we report SNP/CNV haplotype structures determined by analyzing 100 CHMs from Japanese subjects using high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps due to inherent structural instability.
- 2010-05-27
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