针对Y染色体微缺失检测两种不同方案的比较

Six-sequence-tagged site(STS)versus eight-STS scheme for detection of Y chromosome microdeletions

目的:比较两种Y染色体微缺失检测方案的结果。方法:采用荧光定量PCR方法对方案一(六位点法:sY84,sY86,sY127,sY134,sY254,sY255)和方案二(八位点法:sY84,sY86,sY127,sY134,sY254,sY255,sY145,sY152)的检测结果进行比较。结果:六位点法AZF区的缺失检出率为9.34%(575/6177),八位点法AZF区的缺失检出率为8.85%(542/6122),两种方法AZF区的缺失检出率没有显著差异。结论:虽然八位点法增加对AZFd区域位点的检测,但缺失检出率与六位点法无差异。因此,从实验操作、经济成本及对临床策略指导等方面考虑,Y染色体微缺失检测六位点法优于八位点法。

Objective:To compare the six-sequence-tagged site(STS)with the eight-STS scheme in the detection of Y chromosome microdeletions.Methods:Using real-time quantitative PCR,we compared the results of the six-STS(sY84,sY86,sY127,sY134,sY254,sY255)scheme with those of the eight-STS(sY84,sY86,sY127,sY134,sY254,sY255,sY145,sY152)scheme in detecting Y chromosome microdeletions.Results:No statistically significant difference was found in the detection rate of the deletion of the azoospermia factor(AZF)regions between the six-STS and eight-STS methods(9.34%[575/6177]vs 8.85%[542/6122],P>0.05).Conclusion:Though the eight-STS scheme increased the detection of AZFd,its detection rate of the AZF region deletion was not significantly different from that of the six-STS method.From the perspectives of experimental operation,economic cost and clinical strategy guidance,the six-STS is better than the eight-STS scheme for the detection of Y chromosome microdeletions.