中国医师杂志
中國醫師雜誌
중국의사잡지
JOURNAL OF CHINESE PHYSICIAN
2011年
11期
1459-1463
,共5页
贾丽%石彬%曹霁雯%江静
賈麗%石彬%曹霽雯%江靜
가려%석빈%조제문%강정
弹性蛋白/遗传学%外显子%变异(遗传学)%骨盆底/病理生理学
彈性蛋白/遺傳學%外顯子%變異(遺傳學)%骨盆底/病理生理學
탄성단백/유전학%외현자%변이(유전학)%골분저/병리생이학
Elastin/GE%Exons%Variation (Genetics)%Pelvic floor/PP
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.
目的 檢測elastin基因exon20、24、25在盆底功能障礙性疾病(pelvic floor dysfounction,PFD)女性患者中的突變情況,探討基因變異與PFD疾病的關繫.方法 選擇本院婦科因PFD住院手術的病人30例為實驗組(A組),同期非PFD患者20例為對照組(B組)；實驗組患者按照美國盆腔器官脫垂定量分期法(pelvic organ prolaps quantitation,POP-Q)評分分為輕、重度(A1、A2)兩組,均于術前採集靜脈血,應用PCR、DNA直接測序法穫得elastin基因exon 20、24、25的序列,併與NCBI GENEBANK中標準序列比對,觀察基因變異情況.結果 (1)exon20檢測到雜閤錯義點突變(c.114G | A),編碼蛋白由甘氨痠變為絲氨痠,A2組與B組、A1組比較差異均有統計學意義(P＜0.05).(2)exon 24檢測到雜閤錯義點突變(c.81 C | G),編碼蛋白由脯氨痠變為丙氨痠.各組之間比較差異均無統計學意義(P＞0.05).(3)exon 25A各組患者均未髮現基因突變.(4)20 - 21內含子檢測到雜交突變(c.17T | C),A2組與B組、A1組比較差異均有統計學意義(P＜0.05).(5)24 -25內含子檢測到雜交突變(c.69 A |T),各組之間比較差異均無統計學意義(P＞0.05).結論 PFD患者檢測到elastin基因exon 20、exon 24的變異,以elastin基因exon20變異為主,其變異使編碼蛋白髮生改變,PFD患者髮病可能與的elastin基因突變有關.
목적 검측elastin기인exon20、24、25재분저공능장애성질병(pelvic floor dysfounction,PFD)녀성환자중적돌변정황,탐토기인변이여PFD질병적관계.방법 선택본원부과인PFD주원수술적병인30례위실험조(A조),동기비PFD환자20례위대조조(B조)；실험조환자안조미국분강기관탈수정량분기법(pelvic organ prolaps quantitation,POP-Q)평분분위경、중도(A1、A2)량조,균우술전채집정맥혈,응용PCR、DNA직접측서법획득elastin기인exon 20、24、25적서렬,병여NCBI GENEBANK중표준서렬비대,관찰기인변이정황.결과 (1)exon20검측도잡합착의점돌변(c.114G | A),편마단백유감안산변위사안산,A2조여B조、A1조비교차이균유통계학의의(P＜0.05).(2)exon 24검측도잡합착의점돌변(c.81 C | G),편마단백유포안산변위병안산.각조지간비교차이균무통계학의의(P＞0.05).(3)exon 25A각조환자균미발현기인돌변.(4)20 - 21내함자검측도잡교돌변(c.17T | C),A2조여B조、A1조비교차이균유통계학의의(P＜0.05).(5)24 -25내함자검측도잡교돌변(c.69 A |T),각조지간비교차이균무통계학의의(P＞0.05).결론 PFD환자검측도elastin기인exon 20、exon 24적변이,이elastin기인exon20변이위주,기변이사편마단백발생개변,PFD환자발병가능여적elastin기인돌변유관.
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 ｜ 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.
