中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2013年
6期
432-436
,共5页
覃春容%姚吉龙%袁桢%朱文杰%谢建生%吴维青
覃春容%姚吉龍%袁楨%硃文傑%謝建生%吳維青
담춘용%요길룡%원정%주문걸%사건생%오유청
卵巢功能早衰%蛋白聚糖类%受体,转化生长因子β%多态性,单核苷酸%色谱法,高压液相
卵巢功能早衰%蛋白聚糖類%受體,轉化生長因子β%多態性,單覈苷痠%色譜法,高壓液相
란소공능조쇠%단백취당류%수체,전화생장인자β%다태성,단핵감산%색보법,고압액상
Ovarian failure,premature%Proteoglycans%Receptors,transforming growth factor beta%Polymorphism,single nucleotide%Chromatography,high pressure liquid
目的 评价变性高效液相色谱(DHPLC)技术筛查卵巢早衰转化生长因子β受体3(TGFBR-3)基因第11、12外显子多态性的临床应用价值.方法 选择2009年2月至2011年12月在南方医科大学附属深圳市妇幼保健院确诊的卵巢早衰患者110例为卵巢早衰组,以月经规则、性激素检查在正常范围内的年龄匹配的妇女110例为对照组.采用DHPLC技术筛查TGFBR-3基因第11、12外显子多态性,并以DNA测序结果为金标准,计算DHPLC技术筛查的灵敏度、特异度、假阴性率、假阳性率、Youden指数、阳性预测值和阴性预测值等指标.并随机抽取20%的样本(22例),以相同的实验条件,进行第二次DHPLC技术筛查,与第1次结果进行比较,计算Kappa值.结果 TGFBR-3基因第11外显子未检测到多态性,而第12外显子有两个单核苷酸多态性.2022 T/C位点多态性:卵巢早衰组CC、TC、TT基因型频率分别为0.9%(1/110)、22.7% (25/110)、76.4% (84/110),C、T等位基因频率分别为12.3% (27/220)、87.7% (193/220);对照组CC、TC、TT基因型频率分别为0、9.1%(l0/1 l0)、90.9% (100/110),C、T等位基因频率分别为4.5%(10/220)、95.5% (210/220);两组间各基因型频率及等位基因频率分别比较,差异均有统计学意义(P均<0.05).2161-75 C/T多态性位点基因频率、等位基因频率卵巢早衰组和对照组比较,差异均无统计学意义(P均>0.05).以DNA测序结果作为基因多态性判断金标准,DHPLC技术筛查结果的灵敏度为100%、特异度为97.9%、Youden指数97.9%、阳性预测值为96.3%、阴性预测值100%.两次DHPLC技术筛查结果Kappa值为0.888(P <0.05).结论 DHPLC技术筛查TGFBR-3基因多态性具有较高的真实性、可靠性和实用性.
目的 評價變性高效液相色譜(DHPLC)技術篩查卵巢早衰轉化生長因子β受體3(TGFBR-3)基因第11、12外顯子多態性的臨床應用價值.方法 選擇2009年2月至2011年12月在南方醫科大學附屬深圳市婦幼保健院確診的卵巢早衰患者110例為卵巢早衰組,以月經規則、性激素檢查在正常範圍內的年齡匹配的婦女110例為對照組.採用DHPLC技術篩查TGFBR-3基因第11、12外顯子多態性,併以DNA測序結果為金標準,計算DHPLC技術篩查的靈敏度、特異度、假陰性率、假暘性率、Youden指數、暘性預測值和陰性預測值等指標.併隨機抽取20%的樣本(22例),以相同的實驗條件,進行第二次DHPLC技術篩查,與第1次結果進行比較,計算Kappa值.結果 TGFBR-3基因第11外顯子未檢測到多態性,而第12外顯子有兩箇單覈苷痠多態性.2022 T/C位點多態性:卵巢早衰組CC、TC、TT基因型頻率分彆為0.9%(1/110)、22.7% (25/110)、76.4% (84/110),C、T等位基因頻率分彆為12.3% (27/220)、87.7% (193/220);對照組CC、TC、TT基因型頻率分彆為0、9.1%(l0/1 l0)、90.9% (100/110),C、T等位基因頻率分彆為4.5%(10/220)、95.5% (210/220);兩組間各基因型頻率及等位基因頻率分彆比較,差異均有統計學意義(P均<0.05).2161-75 C/T多態性位點基因頻率、等位基因頻率卵巢早衰組和對照組比較,差異均無統計學意義(P均>0.05).以DNA測序結果作為基因多態性判斷金標準,DHPLC技術篩查結果的靈敏度為100%、特異度為97.9%、Youden指數97.9%、暘性預測值為96.3%、陰性預測值100%.兩次DHPLC技術篩查結果Kappa值為0.888(P <0.05).結論 DHPLC技術篩查TGFBR-3基因多態性具有較高的真實性、可靠性和實用性.
목적 평개변성고효액상색보(DHPLC)기술사사란소조쇠전화생장인자β수체3(TGFBR-3)기인제11、12외현자다태성적림상응용개치.방법 선택2009년2월지2011년12월재남방의과대학부속심수시부유보건원학진적란소조쇠환자110례위란소조쇠조,이월경규칙、성격소검사재정상범위내적년령필배적부녀110례위대조조.채용DHPLC기술사사TGFBR-3기인제11、12외현자다태성,병이DNA측서결과위금표준,계산DHPLC기술사사적령민도、특이도、가음성솔、가양성솔、Youden지수、양성예측치화음성예측치등지표.병수궤추취20%적양본(22례),이상동적실험조건,진행제이차DHPLC기술사사,여제1차결과진행비교,계산Kappa치.결과 TGFBR-3기인제11외현자미검측도다태성,이제12외현자유량개단핵감산다태성.2022 T/C위점다태성:란소조쇠조CC、TC、TT기인형빈솔분별위0.9%(1/110)、22.7% (25/110)、76.4% (84/110),C、T등위기인빈솔분별위12.3% (27/220)、87.7% (193/220);대조조CC、TC、TT기인형빈솔분별위0、9.1%(l0/1 l0)、90.9% (100/110),C、T등위기인빈솔분별위4.5%(10/220)、95.5% (210/220);량조간각기인형빈솔급등위기인빈솔분별비교,차이균유통계학의의(P균<0.05).2161-75 C/T다태성위점기인빈솔、등위기인빈솔란소조쇠조화대조조비교,차이균무통계학의의(P균>0.05).이DNA측서결과작위기인다태성판단금표준,DHPLC기술사사결과적령민도위100%、특이도위97.9%、Youden지수97.9%、양성예측치위96.3%、음성예측치100%.량차DHPLC기술사사결과Kappa치위0.888(P <0.05).결론 DHPLC기술사사TGFBR-3기인다태성구유교고적진실성、가고성화실용성.
Objective To evaluate clinical value of denaturing high performance liquid chromatography (DHPLC) used in detecting transforming growth factor beta receptor 3 (TGFBR-3) exons 11 and 12 polymorphism in women with idiopathic premature ovarian failure (POF).Methods From Feb.2009 to Dec.2011,110 patients with idiopathic POF undergoing treatment at Shenzhen Maternal & Child Health Institute affiliated to Southern Medical University were enrolled as POF group in this study.In the mean time,110 women under 40 years old with normal hormonal level and menstrual cycles as control group.The exons 11 and 12 of TGFBR-3 gene polymorphism were screened by using DHPLC,and results of DNA sequencing was as golden standard.Some related indexes were calculated,such as sensitivity,specificity,false negative value,false positive value,Youden index,positive predictive value,and negative predictive value.At the same time,20% of the tested specimens were chosen randomly and detected by DHPLC again.The value of Kappa index were calculated by comparing the results between the first and second DHPLC analysis.Results The exon 11 of TGFBR-3 were not identified gene polymorphism and two nucleotide polymorphisms were identified in exon 12.For 2022 T/C polymorphism,the frequencies of CC with 0.9% (1/110),TC with 22.7% (25/110),TT with 76.4% (84/110),Cwith12.3% (27/220) and T with 87.7% (193/220) in POF group were significantly different from CC with 0,TC with 9.1% (10/110)and TT with 90.9% (100/110),C with 4.5% (10/220) and T with 95.5% (210/220) in control group (all P < 0.05).Allelic and genotypic frequencies of 2161-75 C/T were not differed significantly between the two groups (all P > 0.05).As DNA sequencing as golden standard,DHPLC showed that the sensitivity was 100%,specificity was 97.9%,Youden index was 97.9%,positive predictive value was 96.3%,negative predictive value was 100%,and Kappa index was 0.888 (P < 0.05).Conclusion DHPLC analysis is higher validity,reliability and practicability method in detecting TGFBR-3 polymorphism in idiopathic premature ovarian failure.