中国汉族人群AZFc微缺失区域序列标签位点的探讨

Sequence tagged sites of AZFc microdeletion in Chinese Han population

目的:探讨中国人群无精子因子c(azoosperm ia factor c,AZFc)微缺失的类型及AZF多重PCR筛查时序列标签位点(sequence taged sites,STSs)的选择。方法:采用多重PCR反应测定9个STS位点(sY84、sY86、sY127、sY134、sY152、sY145、sY255、sY254、sY157)筛查164例严重少精子症或非梗阻性无精子症汉族男性Y染色体微缺失,并以精子浓度正常的男性105例作为对照;同时对来自多中心的180例已确诊为sY254、sY255缺失的男性进行sY145、sY152和sY157位点分析。结果:164例严重少精子症或无精子症男性中AZFc缺失者14例(8.5%);共194例sY254、sY255缺失男性的sY145、sY152均未缺失,而sY157未缺失者仅2例。发现1例单sY157缺失的严重少精子症男性为sY1206缺失和DAZ基因中DAZ3/DAZ4基因拷贝缺失。结论:sY254、sY255和sY157缺失是中国人群AZFc缺失的最常见类型;sY145和sY152微缺失在入选的研究对象中未曾出现,因此不建议作为AZFc常规筛查的位点。"sY157的单一缺失"可能是中国人群AZFc部分缺失的一种新类型,其临床意义值得进一步探讨。

Objective： To investigate the patterns of azoospermia factor C（AZFc） microdeletion in the Chinese Han population and optimize the selection of the required sequence tagged sites（STSs） of AZF microdeletion in multiplex polymerase chain reaction（PCR）.Methods： Nine STSs（sY84,sY86,sY127,sY134,sY152,sY145,sY255,sY254 and sY157） were detected by multiplex polymerase reaction for Y chromosome microdeletion in 164 Chinese Han patients with severe oligozoospermia or non-obstructive azoospermia,and another 105 with normal sperm concentration were included as controls.Meanwhile 180 cases of AZFc microdeletion（absence of sY255 and sY254） from multiple reproductive medical centers were analyzed for sY145,sY152 and sY157.Results： Fourteen（8.5%） of the 164 patients with severe oligozoospermia or non-obstructive azoospermia showed AZFc microdeletion（absence of sY255 and sY254）.All the 194 patients with the absence of sY255 and sY254 displayed the presence of sY145 and sY152,only 2 of them with sY157 present.Deletion of sY1206 and DAZ3/DAZ4 copies was confirmed in 1 case of severe oligozoospermia with sY157 absent only.Conclusion： Deletion of sY255 and sY254 as well as sY157 is the most common pattern of AZFc microdeletion in the Chinese Han population.sY145 and sY152 can be omitted in AZFc screening.Absence of sY157 alone may be a new type of partial AZFc microdeletion in the Chinese Han population,and the clinical significance of unique sY157 absent needs to be further explored.