miRNA成熟关键基因DROSHA和DICER的多态性与无精症的相关性  

Association of polymorphisms of miRNA biogenesis related genes DICER and DROSHA with azoospermia

作　　者：符梅[1,2] 徐克惠[1] 叶峻杰 许文明[1] 

机构地区：[1]成都四川大学华西第二医院四川大学-香港中文大学生殖医学联合实验室、教育部出生缺陷与相关妇儿疾病重点实验室,610041 [2]成都中医药大学第二临床医学院妇产科,611137 [3]云南省计划生育研究所,昆明650021

出　　处：《中华医学遗传学杂志》2016年第3期365-368,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究计划（2012CB944903）;新世纪人才计划（NCET-12-0382）

摘　　要：目的探讨miRNA成熟关键基因DICER和DROSHA多态性与男性无精症的相关性。方法应用PCR-限制性片段长度多态性技术，检测330例原发性无精症和282名正常生育男性DICER基因rs3742330和DROSHA基因rs10719多态位点的基因型和等位基因频率。结果病例组中DICER基因rs3742330位点A等位基因频率显著高于对照组（72．0％vs．64．4％），差异有统计学意义（P=0．004），病例组DICER基因rs3742330位点AA基因型频率高于对照组（53．0％vs．41．8％，95％CI：1．071-3．124），差异有统计学意义（P=0．027），而DROSHA基因rs10719位点等位基因频率及基因型频率在两组间的差异均无统计学意义（P〉0．05）。结论DICER基因rs3742330位点多态性与无精症有关联，rs3742330AA基因型可能与无精症的发生存在关联。Objective To assess the association of polymorphisms of miRNA biogenesis related genes DICER and DROSHA with azoospermia. Methods For 330 patients with primary azoospermia and 282 fertile male controls, single nucleotide polymorphisms （SNPs） of DICER rs3742330 and DROSHA rs10719 were determined with a restriction fragment length polymorphism （RFLP）. Results For the SNP rs3742330, the frequency of A allele was higher among azoospermia patients compared with the controls （72.0% vs. 64.4%, P=0. 004）, and so was the frequency of AA genotype （53.0% vs. 41.8%, P=0. 027, OR=1. 829, 95%CI： 1. 071-3. 124）. On the other hand, the allelic and genotypie frequencies of rs10719 did not differ between the two groups （all P〉0.05）. Conclusion Polymorphism of rs3742330 of the DICER gene, particularly the AA genotype, may he associated with azoospermia.

关 键 词：DICER基因 DROSHA基因 单核苷酸多态性 无精症 

分 类 号：R698.2[医药卫生—泌尿科学]