elastin基因exon20、24、25的变异与盆底功能障碍性疾病的研究  

Mutations of elastin gene exon 20,24,25 in the pelvic floor dysfunction

作　　者：贾丽[1] 石彬[2] 曹霁雯 江静[2] 

机构地区：[1]邯郸市中心医院妇二科,河北省邯郸056500 [2]河北医科大学第二医院妇科 [3]河北省石家庄市六院产科

出　　处：《中国医师杂志》2011年第11期1459-1463,共5页Journal of Chinese Physician

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exon20、24、25的序列，并与NCBIGENEBANK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）exon24检测到杂合错义点突变（c．81C｜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）exon25A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．69A｜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exon20、exon24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。Objective 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 I 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 I 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 I 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 I T mutation was found in the trial group, it had no statistical difference with control group （ P 〉 0. 05 ）. Conclusions Mutations of elastin gene exon 20, exon 24 were found in the PFD patients, which can induce the change of the primary protein structure. IVS20 17T I c mutation also existed in the trial group; the elastin gene mutation may be the reason that people are easy to suffer from PFD.

关 键 词：弹性蛋白/遗传学 外显子 变异(遗传学) 骨盆底/病理生理学 

分 类 号：R713[医药卫生—妇产科学]