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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 被引量:26

Establishment and preliminary application of screening methods for Y chromosome microdeletions in male infertility patients
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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。 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.
出处 《中华医学遗传学杂志》 EI CAS CSCD 2003年第4期357-359,共3页 Chinese Journal of Medical Genetics
基金 卫生部重点基金资助项目 (2 0 0 1 32 1 )~~
关键词 不育症 男性 Y染色体微缺失 筛查方法 多重聚合酶链反应 Biopsy Chromosomes Patient treatment
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