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=O.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.%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.
展开▼
