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Omics score: 5

Copy number analysis of Diamond-Blackfan Anemia (DBA) using SNP array

ABSTRACT: Diamondâ€“Blackfan anemia (DBA), is a rare congenital anemia that usually presents in infancy. About fifty percent of DBA patients possess mutations in ribosomal protains (RPs). In this study, we performed genomic copy number analysis using SNP arrays for 27 Japanese DBA patients to detect genomic copy number lesions of the RP genes' loci.

PROVIDER: EGAS00000000105 | EGA |

REPOSITORIES: EGA

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Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.

Kuramitsu Madoka M Sato-Otsubo Aiko A Morio Tomohiro T Takagi Masatoshi M Toki Tsutomu T Terui Kiminori K Wang RuNan R Kanno Hitoshi H Ohga Shouichi S Ohara Akira A Kojima Seiji S Kitoh Toshiyuki T Goi Kumiko K Kudo Kazuko K Matsubayashi Tadashi T Mizue Nobuo N Ozeki Michio M Masumi Atsuko A Momose Haruka H Takizawa Kazuya K Mizukami Takuo T Yamaguchi Kazunari K Ogawa Seishi S Ito Etsuro E Hamaguchi Isao I

Blood 20120118 10

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 ...[more]

PMID: 22262766

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