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无精症患者Y染色体微缺失的多重PCR筛查
引用本文:于丛一,庄广伦,周灿权,闫宗合,李巍,高华,芮德蓉. 无精症患者Y染色体微缺失的多重PCR筛查[J]. 中国男科学杂志, 2003, 17(6): 369-372
作者姓名:于丛一  庄广伦  周灿权  闫宗合  李巍  高华  芮德蓉
作者单位:1. 中山大学附属第二医院生殖中心,广州,510120
2. 中山大学附属第一医院生殖中心
3. 中山大学达安基因诊断中心
摘    要:
目的 建立一套Y染色体微缺失的多重PCR筛查方法。方法 建立5套稳定和可靠的多重PCR筛查方法,对进行ICSI治疗的26例无精子症患者和进行睾丸活检的30例无精子症患者进行Y染色体微缺失的检测。结果 在56例无精子症患者中发现5例AZFc/DAZ缺失,2例同时具有AZFc/DAZ和AZFb/RBMl的缺失,1例仅具有sY153一个片段的缺失。结论 本研究Y染色体微缺失的多重PCR筛查方法是易行和可靠的,对无精子症患者有必要进行Y染色体微缺失的常规筛查。

关 键 词:Y染色体微缺失 多重PCR 男性不育 无精症 染色体
修稿时间:2003-06-03

Multiplex PCR for screening of microdeletions on the Y chromosome in azoospermic patients
Yu Congyi,Zhuang Guanglun,Zhou Canquan,Yan Zonghe,Li Wei,Gao Hua,Rui DerongReproductive Medical Center. Multiplex PCR for screening of microdeletions on the Y chromosome in azoospermic patients[J]. Chinese Journal of Andrology, 2003, 17(6): 369-372
Authors:Yu Congyi  Zhuang Guanglun  Zhou Canquan  Yan Zonghe  Li Wei  Gao Hua  Rui DerongReproductive Medical Center
Affiliation:Yu Congyi,Zhuang Guanglun,Zhou Canquan,Yan Zonghe,Li Wei,Gao Hua,Rui DerongReproductive Medical Center,Department of Obstetrics and Gynecology,the Second AffiliatedHospital of Sun Yatsen University,Guangzhou 510120,China
Abstract:
Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome. Methods Five multiplex sets were established. 26 azoospermic men undergoing ICSI and 30 azoospermic men undergoing testicular biopsy were screened for microdeletions of Y chromosome. Results In 56 azoospermic men, it was founded 5 patients with AZFc/DAZ microdeletions, 2 patients with AZFc/DAZ and AZFb/RBMl microdeletions, and 1 patient with single sY153 microde-letion. Conclusion The multiplex PCR protocol presented in this study is an easy and reliable method for detection of microdeletions on the Y chromosome. Routine screening of microdeletions on the Y chromosome for azoospermic patients is essential.
Keywords:Y chromosome microdeletions  multiplex PCR  male infertility
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