关键词: 唇裂, 多态性, 单核苷酸, 受体, 成纤维细胞生长因子, 1型, 微阵列分析, 腭裂

Abstract: Objective: To explore the relationship between the polymorphisms in gene FGFR1, FGF10, FGF18 and the nonsyndromic cleft lip with or without cleft palate (NS CLP) in Chinese population. Methods: Genomic DNA was isolated from peripheral lymphocytes of 75 patients with NS CLP and their parents and 75 unimpaired healthy children. The polymorphisms in FGFR1 gene rs13317, p.E467K, p.M369I and p.S393S, FGF10 gene rs1448037 and FGF18 gene rs4043716 were detected by applying three-dimensional (3-D) polyacrylamide gel microarray technology. The data were performed using statistical analysis: the genotype frequenc+y and allele frequency between patients with NSCL/P and control subjects were performed. Haplotype relative risk (HRR), family based association test (FBAT), and transmission disequilibrium test (TDT) in nuclear family were performed. Results: There were no polymorphism in FGFR1 gene p.E467K, p.M369I and p.S393S site, the corresponding base was all G. The polymorphisms of rs13317 and rs1448037 were detected and their genotype frequency and allele frequency showed no significant difference between 75 patients with NSCL/P and 75 normal children. TDT, HRR and FBAT were also no significant differences. The genotype frequency of gene FGF18 rs4043716 showed significant difference, but allele frequency were no significant difference. TDT, HRR and FBAT were also no significant difference. Conclusion: Our studies suggest an association between gene FGF18 rs4043716 and the NS CLP in Chinese population, and no association among gene FGFR1 rs13317, p.E467K, p.M369I, p.S393S and gene FGF10 rs1448037.