A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
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.
Tsuda
Masayoshi
M
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.
Yamada
Takahiro
T
Mikoya
Tadashi
T
Sogabe
Izumi
I
Nakashima
Mitsuko
M
Minakami
Hisanori
H
Kishino
Tatsuya
T
Kinoshita
Akira
A
Niikawa
Norio
N
Hirano
Akiyoshi
A
Yoshiura
Koh-ichiro
K
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