カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
掲載誌名	正式名：Blood 略　 称：Blood ISSNコード：1528-0020(Electronic)0006-4971(Linking)
巻・号・頁	119(10),pp.2376-84
著者・共著者	Kuramitsu Madoka, Sato-Otsubo Aiko, Morio Tomohiro, Takagi Masatoshi, Toki Tsutomu, Terui Kiminori, Wang RuNan, Kanno Hitoshi, Ohga Shouichi, Ohara Akira, Kojima Seiji, Kitoh Toshiyuki, Goi Kumiko, Kudo Kazuko, Matsubayashi Tadashi, Mizue Nobuo, Ozeki Michio, Masumi Atsuko, Momose Haruka, Takizawa Kazuya, Mizukami Takuo, Yamaguchi Kazunari, Ogawa Seishi, Ito Etsuro, Hamaguchi Isao
発行年月	2012/03
概要	Fifty percent of Diamond-Blackfan anemia (DBA) patients possess mutations in genes coding for ribosomal proteins (RPs). To identify new mutations, we investigated large deletions in the RP genes RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed an easy method based on quantitative-PCR in which the threshold cycle correlates to gene copy number. Using this approach, we were able to diagnose 7 of 27 Japanese patients (25.9%) possessing mutations that were not detected by sequencing. Among these large deletions, similar results were obtained with 6 of 7 patients screened with a single nucleotide polymorphism array. We found an extensive intragenic deletion in RPS19, including exons 1-3. We also found 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion. In particular, the large deletions in the RPL5 and RPS17 alleles are novel. All patients with a large deletion had a growth retardation phenotype. Our data suggest that large deletions in RP genes comprise a sizable fraction of DBA patients in Japan. In addition, our novel approach may become a useful tool for screening gene copy numbers of known DBA genes.
DOI	10.1182/blood-2011-07-368662
文献番号	22262766