title: A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
abstract: 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.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Tsuda
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamada
authors.forename: Tadashi
authors.initials: T
authors.lastname: Mikoya
authors.forename: Izumi
authors.initials: I
authors.lastname: Sogabe
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.forename: Hisanori
authors.initials: H
authors.lastname: Minakami
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Hirano
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
mesh_terms: D044466:Asian People / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008126:Lod Score; D046228:Microarray Analysis; D018895:Microsatellite Repeats / Q000235:genetics; D010160:Palate, Soft / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics