无精子症和严重少精子症134例遗传学分析  

The genetic analysis on 134 cases of azoospermiaand severe oligozoospermia

作　　者：张玉兰[1] 张新平[1] 惠宏侠[1] 金连弘[2] 

机构地区：[1]哈尔滨医科大学附属第二医院妇产科,哈尔滨150086 [2]哈尔滨医科大学组织胚胎教研室

出　　处：《临床泌尿外科杂志》2004年第3期172-174,共3页Journal of Clinical Urology

基　　金：黑龙江省 95攻关项目 (No :G99C2 2 1)

摘　　要：目的 :研究无精子症和严重少精子症患者染色体畸变及Y染色体 (Yq11区 )无精子症因子 (azoosper micfactor,AZF)缺失情况 ,建立Y染色体微缺失的临床筛查方法。方法 :对 134例患者 (无精子症 97例 ,严重少精子症 37例 )经染色体核型分析及AZF区三个位点 8对引物PCR扩增 ,检测染色体畸变和Y染色体微缺失率。结果 :134例中染色体核型异常 9例 ,占 6 .72 %。AZF缺失 18例 ,缺失率为 13.4 3%。无精子症和严重少精子症AZF缺失率分别为 14 .4 3%、10 .81%。结论 :染色体畸变和Y染色体微缺失是导致无精子症和严重少精子症的主要原因之一。无精子症缺失率高于严重少精子症患者。AZF区三个位点Objective: To study chromosome abnormity and the frequency of microdeletion on Y chromosome for the patients suffering from azoospermia and severe oligozoospermia. To set up the method for screening of microdeletion on Y chromosome.Methods:We analysed the chromosome karotype and the frequency of microdeletion on Y chromosome by using 8 primers from three locus of AZF regions for 134 patients including 97 azoospermic cases and 37 severe oligozoospermic cases. PCR amplification was performed by using 8 primers from three locus of AZF regions.Results:There were 9 cases ( 6.72%) with chromosome abnormity , and 18 cases with microdeletion on Y chromosome among 134 patients. The frequency of AZF microdeletion is up to 13.43%. The frequency of AZF microdeletion for azoospermia and severe oligozoospermia were 14.43% and 10.81% respectively.Conclusions:It is one of the major causes that chromosome abnormity and microdeletion on Y chromosome lead to azoospermia and severe oligozoospermia. The frequency of AZF microdeletion for azoospermia is higher than oligozoospermia. PCR amplification can be used to screen microdeletion on Y chromosome by using 8 primers from three locus of AZF regions.

关 键 词：不孕症 染色体畸变 Y染色体 

分 类 号：R698.2[医药卫生—泌尿科学]