摘要目的 检测elastin基因exon20、24、25在盆底功能障碍性疾病(pelvic floor dysfounction,PFD)女性患者中的突变情况,探讨基因变异与PFD疾病的关系.方法 选择本院妇科因PFD住院手术的病人30例为实验组(A组),同期非PFD患者20例为对照组(B组)；实验组患者按照美国盆腔器官脱垂定量分期法(pelvic organ prolaps quantitation,POP-Q)评分分为轻、重度(A1、A2)两组,均于术前采集静脉血,应用PCR、DNA直接测序法获得elastin基因exon 20、24、25的序列,并与NCBI GENEBANK中标准序列比对,观察基因变异情况.结果 (1)exon20检测到杂合错义点突变(c.114G | A),编码蛋白由甘氨酸变为丝氨酸,A2组与B组、A1组比较差异均有统计学意义(P＜0.05).(2)exon 24检测到杂合错义点突变(c.81 C | G),编码蛋白由脯氨酸变为丙氨酸.各组之间比较差异均无统计学意义(P＞0.05).(3)exon 25A各组患者均未发现基因突变.(4)20 - 21内含子检测到杂交突变(c.17T | C),A2组与B组、A1组比较差异均有统计学意义(P＜0.05).(5)24 -25内含子检测到杂交突变(c.69 A |T),各组之间比较差异均无统计学意义(P＞0.05).结论 PFD患者检测到elastin基因exon 20、exon 24的变异,以elastin基因exon20变异为主,其变异使编码蛋白发生改变,PFD患者发病可能与的elastin基因突变有关.

abstractsObjective To identify exon 20,24,25 mutations of ELN in patients with PFD.Methods The study was designed as case-control analysis.The PFD patients were from the second hospital of the Hebei medical university.30 PFD patients were examined and scored according to the Pelvic Organ Prolapse (POP-Q) classification,and the patients were divided into two groups,the low-grade ( A1 ) group and the high-grade (A2) group.20 non-PFD women were selected as the control group (B).Venous blood had been collected and DNA sequences were determined and compared with the standard sequence in NCBI GENEBANK.Results Exon 20 114 G ｜ A mutation was found in PFD patients,which can induce protein structure change.There were seven cases in the A2 group and one in the B group; it had statistically different between two groups ( P ＜0.05).Exon 24 81C | G mutation was found in the trial group,it had no statistically difference between two groups ( P ＞ 0.05 ).None mutation of Exon 25 was found in all the groups.IVS20 17T｜ C mutation was found in the A2 group,which had statistically difference compared with control group and the low-grade group ( P ＜ 0.05 ).IVS24 69A | T mutation was found in the trial group,it had no statistical difference with control group ( P ＞ 0.05 ).Conclusions Mutations of elastingene exon 20,exon 24 were found in the PFD patients,which can induce the change of the primary protein structure.IVS20 17T | C mutation also existed in the trial group; the elastin gene mutation may be the reason that people are easy to suffer from PFD.