小泛素化修饰基因-1多态性与非综合征型唇腭裂的相关性研究

目的探讨小泛素化修饰基因-1（SUMO-1）rs6709162、rs7599810和rs7580433位点单核苷酸多态性与非综合征型唇腭裂（NSOC）的相关性。方法收集宁夏地区NSOC患者208例、患者父亲189例、患者母亲176例、完整核心家系（患者及其父母）172个进行研究,并收集正常新生儿284例作为对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测SUMO-1基因多态位点rs6709162、rs7599810和rs7580433基因型,并进行病例对照分析、传递不平衡检验（TDT）和以家系为基础的相关性检验（FBAT）。结果病例对照研究发现：SUMO-1基因rs7599810位点的TT基因型频率在唇裂、腭裂组与对照组比较有统计学差异（P=0.01,P=0.01）。TDT分析结果：rs7599810位点的T等位基因在唇腭裂组中存在过传递（P=0.00）;rs6709162位点的C等位基因在腭裂和唇腭裂组中存在过传递（P=0.00,P=0.01）;rs7580433位点的G等位基因在唇裂组中存在过传递（P=0.05）。FBAT分析结果：rs7599810位点TT基因型和T等位基因的分布具有统计学意义（P=0.00,P=0.00）。结论SUMO-1基因多态性与NSOC存在相关性。

Association between small ubiquitin-related modifier-1 gene polymorphism and non-syndromic oral clefting

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 pa-rents),and 284 normal controls.DNA was extracted and polymerase chain reaction-restriction fragment length poly-morphisms(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 rs7599810’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.