无精子症和严重少精子症134例遗传学分析

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(Yql1区)无精子症因子(azoospermic factor，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13．43％。无精子症和严重少精子症AZF、缺失率分别为14．43％、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8对引物PCR扩增可作为Y染色体微缺失的临床筛查方法。

The genetic analysis on 134 cases of azoospermia and severe oligozoospermia

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.