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A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
| Title: | A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 |
| Authors: | Tsuda, Masayoshi Browse this author | | Yamada, Takahiro Browse this author | | Mikoya, Tadashi Browse this author | | Sogabe, Izumi Browse this author | | Nakashima, Mitsuko Browse this author | | Minakami, Hisanori Browse this author | | Kishino, Tatsuya Browse this author | | Kinoshita, Akira Browse this author | | Niikawa, Norio Browse this author | | Hirano, Akiyoshi Browse this author | | Yoshiura, Koh-ichiro Browse this author |
| Keywords: | cleft of the soft palate | | genome-wide linkage analysis | | submucous cleft palate |
| Issue Date: | Feb-2010 |
| Publisher: | Japan Society of Human Genetics |
| Journal Title: | Journal of Human Genetics |
| Volume: | 55 |
| Issue: | 2 |
| Start Page: | 124 |
| End Page: | 126 |
| Publisher DOI: | 10.1038/jhg.2009.131 |
| Abstract: | Cleft of the soft palate (CSP) and the hard palate (CHP) 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 an SNP-based microarray platform and successively using microsatellite markers in a family where 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. |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/46910 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 山田 崇弘
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