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Objective:To explore the relationship between the polymorphisms in gene FGFR1, FGF10, FGFI8 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 FGFRI gene rs13317, p. E467K, p. M3691 and p. S393S, FGF10 gene rs1448037 and FGFI8 gene rs4043716 were detected by applying three-dimensional (3-D) polyacrylamide gel microarray technology. The data were performed using statis-tical 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 poly-morphism in FGFR1 gene p. E467K, p. M369I and p. $393S site, the corresponding base was all G. The polymorphisms of rs13317 and rs1448037 wer

作者:万伟东;杨顺露;刘嘉茵;崔毓桂;周小平;郭芳芳;程宏宇;程璐;肖鹏峰;陆祖宏

来源:北京大学学报(医学版) 2009 年 41卷 4期

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作者:
万伟东;杨顺露;刘嘉茵;崔毓桂;周小平;郭芳芳;程宏宇;程璐;肖鹏峰;陆祖宏
来源:
北京大学学报(医学版) 2009 年 41卷 4期
标签:
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 Cleft lip Polymorphism,single nucleotide Receptor,fibroblast growth factor,type 1 Mieroarray analysis Cleft palate
Objective:To explore the relationship between the polymorphisms in gene FGFR1, FGF10, FGFI8 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 FGFRI gene rs13317, p. E467K, p. M3691 and p. S393S, FGF10 gene rs1448037 and FGFI8 gene rs4043716 were detected by applying three-dimensional (3-D) polyacrylamide gel microarray technology. The data were performed using statis-tical 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 poly-morphism in FGFR1 gene p. E467K, p. M369I and p. $393S site, the corresponding base was all G. The polymorphisms of rs13317 and rs1448037 wer