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男性不育患者Y染色体微缺失筛查方法的建立和初步应用

Establishment and preliminary application of screening methods for Y chromosome microdeletions in male infertility patients

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【作者】 于丛一庄广伦周灿权闫宗合李巍高华芮德蓉

【Author】 YU Cong-yi1, ZHUANG Guang-lun2, ZHOU Can-quan2, YAN Zong-he3, LI Wei3, GAO Hua3, RUI De-rong3. (1Department of Obstetrics and Gynecology, Reproductive Medical Center, the Second Affiliated Hospital,2Department of Obstetrics and Gynecology, Reproductive Medical Center, the First Affiliated Hospital,3 Da-an Genetic Diagnostic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510120 P.R. China. )

【机构】 中山大学附属第二医院生殖中心妇产科中山大学附属第一医院生殖中心妇产科中山大学附属第一医院达安基因诊断中心中山大学附属第一医院达安基因诊断中心 510120广州510120广州

【摘要】 目的 建立一套 Y染色体微缺失的多重 PCR筛查方法 ,对无精症或少精症男性不育患者进行 Y染色体微缺失的常规筛查。方法 建立 5套稳定和可靠的多重 PCR筛查方法 ,对进行单精子卵细胞浆注射治疗的 87例无精症和少精症患者及进行睾丸活检的 30例无精症患者做 Y染色体微缺失的检测。结果 共有 19例发现微缺失 (16 .2 % ) ,其中 6 1例少精症患者中发现 11例 (18.0 % ) ,5 6例无精症患者中发现 8例 (14 .3% )。结论  Y染色体微缺失的多重 PCR筛查方法是易行和可靠的 ,对无精症和少精症患者有必要进行 Y染色体微缺失的常规筛查。

【Abstract】 Objective To develop a multiplex PCR protocol, which could be suitable for routine screening of microdeletions on the Y chromosome in azoospermic and oligozoospermic male infertility patients. Methods Five multiplex sets were established. Eighty-seven azoospermic and oligozoospermic patients undergoing intracytoplasmic sperm injection(ICSI) in the in vitro fertilization(IVF) center and 30 azoospermic men undergoing testicular biopsy in the clinic of Urology Surgery were screened for microdeletions of Y chromosome. Results A total of 19 (16.2%) cases of microdeletions were found in 117 azoospermic and oligozoospermic patients by screening of Y chromosome microdeletions. Of these, 11 cases (18.0%) were found in 61 oligozoospermic patients, and 8 cases (14.3%) were found in 56 azoospermic patients. Conclusion The multiplex PCR protocol presented in this study is an easy-to-do and reliable method for detecting microdeletions on the Y chromosome. Routine screening of microdeletions on the Y chromosome for azoospermic and oligozoospermic patients is essential.

【基金】 卫生部重点基金资助项目 (2 0 0 1 32 1 )~~
  • 【文献出处】 中华医学遗传学杂志 ,Chinese Journal of Medical Genetics , 编辑部邮箱 ,2003年04期
  • 【分类号】R698.2
  • 【被引频次】36
  • 【下载频次】258
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