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中文摘要：
目的：研究染色体异常和基因突变与男性不育的关系。方法：对2008年3月～2010年3月来本院就诊的男性不育患者2406例,按照WHO精液分析诊断标准分组进行染色体核型分析和无精症因子（AZF）基因缺失分析。结果：非梗阻性无精子症1992例,隐匿精子症216例,严重少弱畸精子症76例,少弱畸精子症122例;各组染色体异常率分别为26.46%、36.57%、27.63%、18.85%,其中常染色体异常率分别为4.17%、20.83%、18.42%、18.85%,性染色体异常率分别为22.29%、15.74%、9.21%和1.64%。核型分析结果显示非梗阻性无精子症组克氏症患者占15.56%。AZF基因缺失检测结果显示非梗阻性无精子症、隐匿精子症和严重少弱畸精子症各组AZF基因缺失异常率分别为4.82%、12.5%、9.21%。结论：男性不育患者染色体异常率高于正常人群,AZF基因缺失异常率高于正常人群,对男性不育诊断时有必要进行常规遗传学检查,尤其对是隐匿精子症和严重少弱畸精子症患者在选择卵细胞浆内单精子注射技术时进行遗传学检查。
英文摘要：
Objective：To explore the relationship between chromosomal abnormality and male infertility.Methods：A total of 2 406 infertile man recruited between Mar.2008 and Mar.2010 were divided into four groups according to WHO diagnostic criteria of semen analysis and their blood samples were collected for karyotype analysis and analysis of a microdeletion in the AZF gene region.Results：A total of 1 992 patients suffered with non-obstructive azoospermia,216 with occult azoospermia,76 with severe oligozoospermia,and 122 with oligozoospermia.And the rates of abnormal chromosome was 26.46%,36.57%,27.63% and 18.85% respectively in the four groups.Among them,abnormal rates of autosome were 4.17%,20.83%,18.42%,18.85%,and those of sex chromosomes were 22.29%,15.74%,9.21% and 1.64%,respectively.Of all the patients,the karyotype analysis found 15.56% with Klinefelter syndrome in the group of non-obstructive azoospermia.While a higher rates of microdeletion of AZF and Y chromosomal deletion were found in patients with non-obstructive azoospermia （4.82%）,occult azoospermia （12.5%） and severe oligozoospermia （9.21%）.Conclusion：The rates of chromosomal abnormalities and microdeletion of AZF gene in infertile man are higher than those of normal man.Therefore,it is necessary to carry out regular genetic screen for these patients,especially for patients with occult azoospermia and severe oligozoospermia who plan to prepare for intracytoplasmic sperm injection （ICSI）.
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