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The ethnic difference of the prevalence of SfaN polymorphism in the nonsyndromic cleft palate  

Kim, Myung-Hee (Department of Orthodontics, College of Dentistry, Seoul National University)
Nahm, Dong-Seok (Department of Orthodontics, College of Dentistry, Seoul National University)
Rotaru, Horatiu (Department of Craniomaxillofacial Surgery, Iuliu Hatieganu University of Medicine and Pharmacy)
Hurubeanu, Lucia (Department of Craniomaxillofacial Surgery, Iuliu Hatieganu University of Medicine and Pharmacy)
Choi, Je-Yong (Department of Biochemistry, College of Medicine, Kyoungbook University)
Chae, Chang-Hoon (Biocodon Inc.,)
Kim, Seong-Gon (Department of Oral and Maxillofacial Surgery, Sacred Heart Hospital, Hallym University)
Publication Information
The korean journal of orthodontics / v.34, no.3, 2004 , pp. 261-267 More about this Journal
Abstract
Nonsyndromic cleft lip and/or palate (NSCLP) is one of the most common congenital deformities and its prevalence in Far East Asia, such as within Korean and Japanese populations, is relatively high. However, in the eastern part of Europe, clefts are relatively rare situations. These ethnic differences infer a genetic background of the disease. The objective of this study was to compare the frequency of single nucleotide polymorphism (SNP) in $TGF-{\beta}3$ between Korean and Romanian cleft families. Korean cleft families samples were collected from twenty-six families (n=78) and Romanian cleft families samples were collected from eighteen families (n=41). For sequencing, the blood or saliva of the subjects was sampled. A single nucleotide polymorphism was observed in the intron 5 of $TGF-{\beta}3$ (Al8141G). The frequency of each allele was significantly different between the Korean and Romanian samples. The Ah allele was present in 18 out of 78 Korean samples (23.1%) and in 27 out of 41 Romanian samples (65.9%). The AG was present in 27 (34.6%) out of 78 Koreans and in 13 (31.7%) out of 41 Romanians. The GG was found in 33 (42.3%) Koreans and in 1 (2.4%) Romanian. The difference between the groups was significant (p<0.001). In conclusion, the frequency of observed SNP was significantly different between the two countries. SNP in $TGF-{\beta}3$ in the Korean population seemed to have a higher possibility of occurrence for nonsyndromic cleft palate than the Romanian population.
Keywords
Nonsyndromic cleft palate; SNP; SfaN1;
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