{"id":"hum0612","version":1,"url":"https://humandbs.dbcls.jp/research/hum0612/v1","datePublished":"2026-10-28","versions":[{"version":1,"datePublished":"2026-10-28"}],"title":{"ja":"新規遺伝学的検査解析データの制限公開データベース登録研究","en":"Registered research projects for new genetic test analysis data in the restricted-access database"},"summary":{"aims":{"ja":"現行の遺伝学的検査は、エクソン・キャプチャー・シーケンス法とMLPA法が主流であり、検出されるバリアントはエクソンおよびその周辺の点変異とエクソンのコピー数異常に限られる。我々は、構造異常、深部イントロンバリアント、モザイクバリアントなども検出可能である、vLAS (very long amplicon sequencing)、rLAS (RNA long amplicon sequencing)、TgCap (targeted genome capture sequencing)といった新規検査法を開発し論文発表してきた。本研究の目的は、開発した検査法により新規知見のあった症例の論文報告の際や、新規の遺伝学的検査法を開発した際の論文報告の際に、個人情報が適切に取り扱われるようにNBDCヒトデータベースへ制限公開登録し、他の研究者の検証や二次利用に資するようにすることにある。","en":"The current genetic testing methods are exon capture sequencing and MLPA and limited to detecting point mutations in exons, as well as copy number of exons. We have developed and published papers on novel testing methods, such as vLAS (very long amplicon sequencing), rLAS (RNA long amplicon sequencing) and TgCap (targeted genome capture sequencing), which can detect structural abnormalities, deep intronic and mosaic variants. This study aims to ensure that personal information is handled appropriately when reporting cases with new findings or the development of new genetic testing methods. To this end, we will register these data with the NBDC Human Database for restricted access, thereby facilitating verification and secondary use by other researchers."},"methods":{"ja":"vLAS：末梢血DNAを約20kbのLong-PCR setで増幅し、対象遺伝子のイントロンを含む全ゲノム領域をカバーした。アンプリコンをプールし、Nextera (illumina)でライブラリ形成を行い、MiSeq (illumima) でシークエンスした。\n\nrLAS：全血より末梢単核球を分離。Trizol で全RNAを抽出しoligo dTプライマーで1本鎖cDNAを作成。これを鋳型にERCC4遺伝子の全長ｍRNAをLong RT-PCRで増幅。増幅産物よりNextera (illumina)でライブラリ形成を行い、MiSeq (illumima) でシークエンスした。\n\n末梢血DNAを用いたvLASでバリアントを同定し、末梢単核球総RNAを用いたrLASでスプライシング異常の状態を定量分析した。","en":"vLAS: We amplified peripheral blood DNA using a long PCR set of approximately 20 kb, which covered the entire genomic region, including the introns of the target gene. The amplicons were then pooled and libraries were prepared using Nextera (Illumina), after which they were sequenced on a MiSeq (Illumina).\n\nrLAS: Peripheral mononuclear cells were isolated from whole blood. Total RNA was extracted using Trizol and single-stranded cDNA was synthesized using oligo-dT primers. The full-length mRNA of the ERCC4 gene was then amplified by Long RT-PCR using this as a template. A library was constructed from the amplification products using Nextera (Illumina) technology, and the library was sequenced on a MiSeq (Illumina).\n\nThe variant was identified using vLAS on peripheral blood DNA. The splicing abnormality was quantitatively analyzed using rLAS on total RNA from peripheral mononuclear cells."},"targets":{"ja":"色素性乾皮症1症例（vLAS 1検体、rLAS 1検体）\nERCC4遺伝子の深部イントロンに新規のスプライシング変異NC_000016.10(NM_005236.3):c.207+196T>A が同定されタイプFと診断された症例","en":"Xeroderma pigmentosum: 1 case (one vLAS specimen and one rLAS specimen)\nA novel splicing variant, NC_000016.10(NM_005236.3):c.207+196T>A, was identified in a deep intron of the ERCC4 gene and the patient was diagnosed with type F."},"url":{"ja":[{"url":"https://www.kanazawa-med.ac.jp/laboratories/mri-genome-medicine.html","text":"https://www.kanazawa-med.ac.jp/laboratories/mri-genome-medicine.html"}],"en":[{"url":"https://www.kanazawa-med.ac.jp/laboratories/en/mri-genome-medicine.html","text":"https://www.kanazawa-med.ac.jp/laboratories/en/mri-genome-medicine.html"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"色素性乾皮症：1症例\n（日本人）","en":"xeroderma pigmentosum: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS（Targeted DNA-seq、Targeted RNA-seq）","en":"NGS (Targeted DNA-seq, Targeted RNA-seq)"}},"releaseNote":{"ja":"色素性乾皮症1症例の末梢血より抽出したDNAを用いたTargeted DNA-seq（vLAS）および末梢血単核球から抽出したRNAを用いたTargeted RNA-seq（rLAS）解析データをfastqファイルにて提供する。","en":"DNA extracted from peripheral blood cells and RNA extracted from peripheral mononuclear cells obtained from 1 xeroderma pigmentosum patient were used for Targeted DNA-seq (vLAS) and Targeted RNA-seq (rLAS) analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"新井田 要","en":"Yo Niida"},"organization":{"name":{"ja":"金沢医科大学 総合医学研究所 先端医療研究領域 ゲノム疾患研究分野","en":"Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"NA","en":"NA"},"agency":{"ja":"金沢医科大学研究費","en":"Kanazawa Medical University"},"grantIds":["11181","26699"]}],"relatedPublications":[{"title":"A case with Xeroderma Pigmentosum Type F manifested a mild phenotype due to a deep intronic variant of the ERCC4 gene","doi":"https://doi.org/10.3389/jcia.2026.16180","datasets":["JGAD001129"]}],"datasets":["JGAD001129"],"controlledAccessUsers":[]}