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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 explore the types of microdeletion of azoosperm ia factor c (AZFc) in Chinese population and the selection of sequence taged sites (STSs) in AZF multiplex PCR screening. METHODS: Nine STS loci (sY84, sY86, sY127, sY134, sY152, sY145, sY255, sY254, sY157) were screened by multiplex PCR for 164 Y chromosomes of severe male or non-obstructive azoospermia Microdeletions were detected and 105 males with normal sperm concentration were used as controls. At the same time, 180 males with confirmed sY254 and sY255 deletion from multiple centers were analyzed for sY145, sY152 and sY157. Results: Among 164 males with severe oligospermia or azoospermia, 14 cases (8.5%) had AZFc deletion. A total of 194 cases of sY254 and sY255-deficient males had no deletion of sY145 and sY152, while only 2 cases of sY157 were not deleted. One case of severe oligospermia with single sY157 deletion was found to be deficient in sY1206 and a copy of the DAZ3 / DAZ4 gene in the DAZ gene. CONCLUSIONS: The deletion of sY254, sY255 and sY157 is the most common type of AZFc deletion in Chinese population. The microdeletions of sY145 and sY152 did not appear in the selected study subjects, so it is not recommended as a routine screening site for AZFc. The single deletion of sY157 may be a new type of deletion of AZFc in Chinese population, and its clinical significance is worth further exploration.