本文關(guān)鍵詞：Real-timePCR技術(shù)篩查男性不育患者的Y染色體微缺失　出處：《重慶醫(yī)科大學(xué)學(xué)報》2015年06期 　論文類型：期刊論文

  更多相關(guān)文章： 男性不育 Y染色體微缺失 實時熒光定量PCR

【摘要】：目的:探討real-time PCR技術(shù)檢測Y染色體微缺失的適用性,并研究男性不育患者中無精癥和少精癥Y染色體微缺失的發(fā)生率。方法:本研究收集6例Y染色體微缺失陽性樣本,4例女性樣本和4例正常生育男性樣本分別采用real-time PCR及多重PCR電泳法對Y染色體無精子因子(azoospermia factor,AZF)AZFa、AZFb、AZFc區(qū)進行檢測;再收集452例臨床男性不育患者的外周血樣本,采用real-time PCR檢測Y染色體微缺失位點。結(jié)果:2種方法對14例比對樣本6個共有序列標簽位點檢測的結(jié)果一致;452例男性不育癥包括96例少弱精癥、9例重度少弱精癥、69例無精癥、3例畸精癥和275例其他男性不育癥,real-time PCR法共檢出8例AZFc區(qū)缺失、1例AZFb區(qū)缺失和2例AZFbc共缺失,其中在少弱精癥、重度少弱精癥和無精癥中Y染色體微缺失陽性率分別為5.21%、11.1%和7.25%,而另外2組均未檢測到微缺失。結(jié)論:real-time PCR法檢測Y染色體微缺失結(jié)果與經(jīng)典的多重PCR電泳法結(jié)果相同,且該法的檢測結(jié)果與臨床診斷相符,因此real-time PCR適用于Y染色體微缺失的臨床實驗室篩查。
[Abstract]:Objective: to investigate the applicability of real-time PCR technique in detecting Y chromosome microdeletion. The incidence of Y chromosome microdeletion in azoospermia and oligozoospermia was studied. Methods: six cases of Y chromosome microdeletion positive samples were collected in this study. Real-time PCR and multiple PCR electrophoresis were used to detect Y chromosome azoospermia factors in 4 female samples and 4 normal fertile men. Azoospermia factor. AZFX AZFB AZFc region was detected. The peripheral blood samples of 452 male infertile patients were collected. Real-time PCR was used to detect Y chromosome microdeletion loci. 452 cases of male infertility included 96 cases of oligozoospermia 9 cases of severe oligozoospermia 69 cases of azoospermia 3 cases of teratospermia and 275 cases of other male infertility. 8 cases of AZFc region deletion were detected by real-time PCR method, 1 case with AZFb deletion and 2 cases with AZFbc co-deletion, including oligoasthenospermia. The positive rates of Y chromosome microdeletion in severe oligozoospermia and azoospermia were 5.21% and 7.25% respectively. No microdeletions were detected in the other two groups. Conclusion the results of detecting Y chromosome microdeletions by real-time PCR assay are the same as those by classical multiplex PCR electrophoresis. The results of this method are consistent with the clinical diagnosis, so real-time PCR is suitable for clinical laboratory screening of Y chromosome microdeletion.
【作者單位】： 重慶醫(yī)科大學(xué)附屬第一醫(yī)院臨床分子醫(yī)學(xué)檢測中心;
【分類號】：R698.2
【正文快照】： 目前,全世界共有不育癥患者約5 000~8 000萬人,已婚孕齡夫婦中不孕不育癥的發(fā)病率約為15%,其中男性不育約占50%[1]。由遺傳缺陷引起的精子發(fā)育障礙約占男性不育的30%以上,其中Klinefelter綜合征與Y染色體微缺失是最主要的遺傳缺陷因素[2]。1976年Tiepolo和Zuffardi發(fā)現(xiàn)人類Y染

【參考文獻】

相關(guān)期刊論文 前1條

1 朱曉斌;馮云;智二磊;樊衛(wèi)民;張愛軍;;1052例Y染色體微缺失檢測及14例微缺失家系調(diào)查[J];中華男科學(xué)雜志;2014年07期

【共引文獻】

相關(guān)期刊論文 前10條

1 徐嵐,鄭燕鑾,史桂芝,張新能,黃天華;無精子癥、嚴重少精子癥遺傳缺陷的研究[J];癌變.畸變.突變;2005年01期

2 徐珊珊;黃天華;謝慶東;吳叢梅;吳德生;;pIRES2-EGFP-DAZ3質(zhì)粒構(gòu)建及金黃地鼠2-細胞胚中人DAZ基因的復(fù)制與表達[J];癌變.畸變.突變;2006年03期

3 冀榮俊,劉剛;男性特發(fā)性不育癥與RBM基因關(guān)系的探討[J];蚌埠醫(yī)學(xué)院學(xué)報;2004年05期

4 張孝禹;韓U，

本文編號：1401085