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目的研究Y染色体长臂Yq11区DYS1基因微缺失与特发性男性不育的关系以及DYS1基因微缺失患者睾丸病理类型和性激素水平变化。方法病例组:60例临床诊断为特发性男性不育的患者;对照组:80例已生育的健康男性。外周血提取基因组DNA,以PCR的方法,检测目的基因。睾丸病理学检查采用组织活检、石蜡切片、HE染色、光镜下观察。血清性激素测定采用化学发光免疫分析法。结果病例组有8例患者出现DYS1基因微缺失,缺失率为13.33%(8/60),对照组无DYS1基因微缺失,两组DYS1基因的缺失率差异有显著统计学意义(P<0.01),可认为DYS1基因微缺失与特发性男性不育发病有关联(OR=26.07)。DYS1微缺失的患者睾丸病理均表现不同程度的生精细胞减少,其中3例生精细胞极少;DYS1微缺失的患者T水平低于对照组(P<0.01),也低于特发性男性不育组总体水平(P<0.05)。结论DYS1基因微缺失与特发性男性不育有关联,DYS1微缺失患者睾丸病理表现为不同程度的生精障碍,血清T水平低下。
Objective To study the relationship between DYS1 gene microdeletion in Yq11 region of long arm of Y chromosome and idiopathic male infertility and the pathological changes of testis and sex hormone levels in patients with microdeletion of DYS1 gene. Methods Case group: 60 cases of idiopathic male infertility clinically diagnosed; control group: 80 healthy male fertility. Genomic DNA was extracted from the peripheral blood to detect the target gene by PCR. Testicular pathological examination using biopsy, paraffin sections, HE staining, light microscopy. Serum sex hormone assay using chemiluminescence immunoassay. Results There were 8 cases of patients with DYS1 gene microdeletion, the deletion rate was 13.33% (8/60), there was no microdeletion of DYS1 gene in control group, the difference of DYS1 gene deletion rate was statistically significant (P <0.01) , DYS1 gene microdeletions can be considered associated with idiopathic male infertility (OR = 26.07). The testicular pathology of patients with DYS1 microdeletion showed varying degrees of spermatogenic cells reduction, of which 3 cases had very few spermatogenic cells. The T level of patients with DYS1 microdeletion was lower than that of the control group (P <0.01) and also lower than that of idiopathic male The infertility group overall level (P <0.05). Conclusion The microdeletion of DYS1 gene is associated with idiopathic male infertility. The pathological changes of testis in patients with DYS1 microdeletion show different degree of sperm dysfunction and serum T level is low.