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目的讨Y染色体微缺失基因检测的临床意义。方法应用4组多重PCR技术对147例不孕患者进行Y染色体AZF基因家族AZFa、AZFb、AZFc、AZFd 4个座位上15个STS位点和1个内控位点的检测。结果147例原发性不孕患者中共发现12例有缺失,缺失率为8.16%,其中最常见的是AZFa和AZFc+d区的基因位点缺失,未发现单独AZFb、AZFc、AZFd区及其他组合区模式缺失。AZFa区缺失4例(33.33%)和AZFc+d区缺失4例(33.33%),AZFb+c+d区缺失者3例(25%),AZFa+b+c+d区均缺失者1例(8.33%)。结论开展Y染色体微缺失的基因检测对明确男性不育患者的病因、选择治疗方案具有非常重要的意义。
Objective To investigate the clinical significance of Y chromosome microdeletion gene detection. Methods A total of 147 infertile patients with four multiplex PCR techniques were used to detect 15 STS loci and 1 internal control locus on four loci of AZF gene family AZFa, AZFb, AZFc and AZF. Results A total of 147 cases of primary infertility were found in 12 cases were missing, the deletion rate was 8.16%, of which the most common AZFa and AZFc + d region of the gene locus was not found AZFb AZFc AZFd alone and other Portfolio mode is missing. 4 cases (33.33%) were deleted in AZFa region and 4 cases (33.33%) were missing in AZFc + d region, 3 cases (25%) were deleted in AZFb + c + d region and 1 case was deleted in AZFa + (8.33%). Conclusion Gene detection of Y chromosome microdeletion is of great significance in elucidating the etiopathogenisis of male infertility patients and selecting treatment options.