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

作者：Tsuda Masayoshi; Yamada Takahiro; Mikoya Tadashi; Sogabe Izumi; Nakashima Mitsuko; Minakami Hisanori; Kishino Tatsuya; Kinoshita Akira; Niikawa Norio; Hirano Akiyoshi; Yoshiura Koh ichiro^*

来源：Journal of Human Genetics, 2010, 55(2): 124-126.

DOI：10.1038/jhg.2009.131

• cleft of the soft palate
• genome-wide linkage analysis
• submucous cleft palate

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. Journal of Human Genetics (2010) 55, 124-126; doi: 10.1038/jhg.2009.131; published online 15 January 2010

• 出版日期2010-2
• 单位河北医科大学