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少精症患者Y染色体微缺失基因诊断的研究
引用本文:钱卫平,李崎,谭玉梅,邹红艳,张敏,宋丹,卢光琇.少精症患者Y染色体微缺失基因诊断的研究[J].实用预防医学,2005,12(3):566-568.
作者姓名:钱卫平  李崎  谭玉梅  邹红艳  张敏  宋丹  卢光琇
作者单位:1. 中南大学生殖与干细胞工程研究所,湖南,长沙,410008;深圳市罗湖医院生殖医学中心
2. 深圳市罗湖医院生殖医学中心
3. 中南大学生殖与干细胞工程研究所,湖南,长沙,410008
摘    要:目的 建立稳定的少、弱精症患者Y染色体微缺失的基因诊断方法,研究 男性不育与Y染色体位点缺失的相关性。方法选取位于AZE区15个STR微卫星标记分成4组进行多重PCR的检测。结果 90例少弱精患者中,检出7例缺失,占患者的7.8%。其中有3例为单个位点的缺失,有4例为大片断缺失。结论 多重PCR是检测Y染色体微缺失的合适方法,AZEb和AZEc区与少弱精症密切相关。

关 键 词:男性不育  Y染色体  多重PCR  微缺失
文章编号:1006-3110(2005)03-0566-03
收稿时间:2005-03-08
修稿时间:2005年3月8日

Genetic Diagnosis of the Microdeletions in the Y Chromosome of Idiopathic Oiigospermia or Azoospermia
QIAN Wei - ping, LI Qi , TAN Yu mei ,et al..Genetic Diagnosis of the Microdeletions in the Y Chromosome of Idiopathic Oiigospermia or Azoospermia[J].Practical Preventive Medicine,2005,12(3):566-568.
Authors:QIAN Wei - ping  LI Qi  TAN Yu mei  
Institution:Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410008, Hunan
Abstract:Objective To create genetic diagnosis method of the microdeletions in the Y chromosome, to assess the relationships between idiopathic oligospermia or azoospermia and microdeletions in the Y chromosome. Methods Fifteen Y linked sequence tagged sites in AZF region which divided into 4 groups and were screened by means of multiplex PGR in 90 idiopathic oligospermia or azoospermia patients. Results Microdeletions in the genomic DNA were observed in 7 of the 90 cases , the total deletion rate was 7.8 %. Among them, .3 cases had single site deletion,4 cases had multiplex sites deletions. Conclusions Multiplex PCR is a valid technique for detection of microdeletions. Microdeletions of the AZFb and AZFc may be an important reason of idiopathic oligospermia or azoospermia.
Keywords:Infertility  male  Y chromosome  Multiplex PCR  Microdeletion
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