关键词: 非综合征型唇腭裂, 成纤维细胞生长因子3, 单核苷酸多态性

Abstract:

Objective To investigate the association between fibroblast growth factor 3（FGF3） gene rs4980700 and rs4631909 polymorphism and non -syndromic oral clefting（NSOC）. Methods Blood samples from 186 NSOC patients, patients’parents and 200 controls were collected. DNA was extracted and PCR-restriction fragment length polymorphism（PCR-RFLP） was used to identify genotypes of the samples. Case -control analyses and transmission disequilibrium test（TDT） and family based association test（FBAT）analyses were also carried out. Results In casecontrol analysis, there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group（P<0.05） and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group（P<0.05）, but no difference in cleft palate only（P=0.49）. In TDT, the G allele of rs4980700 had an overtransmission（P<0.05） and the C allele of rs4631909 had an overtransmission（P<0.05） in NSOC. FBAT analysis also showed a significant association between FGF3 gene rs4980700, rs4631909 polymorphism and NSOC. Conclusion FGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.

Key words: nonsyndromic oral clefts, fibroblast growth factor 3, single nucleotide polymorphism