国产与进口Y染色体微缺失筛查试剂的评估性研究

Evaluation of Y chromosome microdeletion screening kits

目的:比较和评价检测Y染色体微缺失的国产试剂和进口试剂的差异,包括其稳定性、重复性、经济性和有效性。方法:采用多重聚合酶链反应技术,分别选择国产试剂和进口试剂对46例(无精症43例,少精症3例)男性不育患者进行Y染色体微缺失分子遗传学检测。结果:Y染色体无精子因子(AZF)缺失率为19.57%(9/46),AZFa、AZFb、AZFc和AZFd4个区域的缺失率分别是22.22%、37.50%、88.89%和88.89%。其中,AZFa单独缺失1例、AZFc+d联合缺失5例、AZFb+c+d联合缺失2例,AZFa+b+c+d联合缺失1例。应用国产试剂与进口试剂检测所得结果一致。结论:在检测Y染色体缺失时,国产试剂与进口试剂具有相同的检测稳定性、重复性和有效性,而国产试剂具有较高的性价比。

To evaluate two screening kits for detection of Y chromosome microdeletion of azoospermia factor （AZF）. Methods ： Forty - three patients with azoospermia and 3 patients with oligozoospermia were detected of AZF region mi- crodeletion of Y chromosome by multiplex PCR with two kinds of screening kit, a domestic product and a foreign one. Results ： The incidence of AZF microdeletion was 19.57% （9/46）. Those in AZFa, AZFb, AZFc and AZFd were 22.22%, 37. 50%, 88.89% and 88.89%, respectively. And 1 presented a combined AZFa ＋ b ＋ c ＋ d deletion, 2 presented a combined AZFb ＋ c ＋ d deletion, 5 presented a combined AZFc ＋ d deletion, and 1 had a deletion in AZFa only. The results of two kinds of screening kit were consistent. Conclusion： Both screening kits have the same characteristics of stability, repetition and validity. It is more economical to choose the domestic product.