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A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12

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タイトル: A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
著者: Tsuda, Masayoshi / Yamada, Takahiro / Mikoya, Tadashi / Sogabe, Izumi / Nakashima, Mitsuko / Minakami, Hisanori / Kishino, Tatsuya / Kinoshita, Akira / Niikawa, Norio / Hirano, Akiyoshi / Yoshiura, Koh-ichiro
発行日: 2010年 1月15日
引用: Journal of Human Genetics, 55(2), pp.124-126; 2010
抄録: Cleft of the soft palate (CSP) and the hard palate are subtypes of cleft palate. Patients with either condition often have difficulty with speech and swallowing. Nonsyndromic, cleft palate isolated has been reported to be associated with several genes, but to our knowledge, there have been no detailed genetic investigations of CSP. We performed a genome-wide linkage analysis using a single-nucleotide polymorphism-based microarray platform and successively using microsatellite markers in a family in which six members, across three successive generations, had CSP. A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP.
キーワード: Cleft of the soft palate / Genome-wide linkage analysis / Submucous cleft palate
URI: http://hdl.handle.net/10069/23091
ISSN: 14345161
DOI: 10.1038/jhg.2009.131
権利: © 2010 The Japan Society of Human Genetics
資料タイプ: Journal Article
原稿種類: author
出現コレクション:110 学術雑誌論文

引用URI : http://hdl.handle.net/10069/23091



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