关键词: 非综合征型唇腭裂, 小泛素化修饰基因-1, 单核苷酸多态性

Abstract:

Objective To investigate the association between small ubiquitin-related modifier-1（SUMO-1） gene rs6709162, rs7599810, rs7580433 polymorphism and non-syndromic oral clefting（NSOC）. Methods Our study consisted of 208 Ningxia NSOC patients, their parents（189 fathers and 176 mothers）, 172 nuclear families（patients and their parents）, and 284 normal controls. DNA was extracted and polymerase chain reaction-restriction fragment length polymorphisms（ PCR-RFLP） was used to identify rs6709162, rs7599810, rs7580433 genotypes of the samples. The data was analyzed by case -control analysis, family based associated test（FBAT）, and transmission disequilibrium test（TDT）. Results Case-control study found that TT genotype’s frequency was significantly different in cleft lip and cleft palate group compared with the control group at rs7599810 of SUMO-1（P=0.01, P=0.01）. TDT test showed that rs7599810’s T allele had over-transmitted（P=0.00） in cleft lip and palate group. FBAT analysis revealed that distribution of rs75- 99810’s TT genotype and T allele was significantly different（P=0.00, P=0.00）. TDT test showed that rs6709162’s C allele in cleft palate and cleft lip and palate patients had over-transmitted（P=0.00, P=0.01）. rs7580433’s G allele in cleft lip group had over-transmitted（P=0.05）. Conclusion SUMO-1 gene polymorphism is associated with NSOC.

Key words: non-syndromic oral clefting, small ubiquitin-related modifier-1, single nucleotide polymorphism