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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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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)

Submitter: 山田 崇弘

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