云南大理白族和汉族弱精子症患者精子mtDNA 4977 bp缺失相关性研究

探讨云南大理白族和汉族弱精子症患者精子线粒体DNA(mtDNA) 4977 bp缺失的相关性。收集云南大理白族弱精子症患者137例,汉族弱精子症患者121例,正常对照组大理白族和白族精子活力正常人各120例,提取精液基因组DNA,采用聚合酶链式反应(PCR)技术进行精子mtDNA4977bp缺失的研究。结果显示,120例正常对照的大理白族精子活力正常人中有10例(8.33%)存在mtDNA4977 bp缺失;而137例大理白族弱精子症患者中有89例(64.96%)存在mtDNA 4977 bp缺失。两组4977 bp缺失频率比较有极显著性差异(P 0.01)。120例正常对照的汉族精子活力正常人中有7例(5.83%)存在mtDNA 4977 bp缺失;121例大理白族弱精子症患者中有85例(70.25%)存在mtDNA 4977 bp缺失。两组4977 bp缺失频率比较差异有极显著性(P 0.01)。同时发现大理白族弱精子症患者与汉族弱精子症患者mtDNA 4977 bp缺失频率无显著性差异(P 0.05)。大理白族和汉族人群mt DNA 4977 bp缺失与弱精子症的发病有明显的关联,提示mtDNA 4977 bp缺失在弱精子症的发生中可能起重要作用。

ASSOCIATION OF MTDNA 4977 BP DELETION OF SPERMATOZOA BETWEEN DALI BAI AND HAN NATIONALITY MALES WITH ASTHENOZOOSPERMIA

The relationship and differences for mtDNA 4977 bp deletion of spermatozoa between the normal Dali Bai and Han males with asthenozoospermia was investigated in this paper. Using polymerase chain reaction (PCR) technique, the frequency of occurrence and properties of mtDNA 4977 bp deletion were determined in human spermatozoa with different motilities. According to the three criteria established by World Health Organization 1999 (WHO 1999), samples were divided into 4 groups. They were Bai nationality male with normal sperm (120cases), Bai nationality Male with asthenozoospermia (137 cases); Han nationality male with normal sperm (120 cases), Han nationality Male with asthenozoospermia (121 cases), and the samples in hot mutation region -4977 bp of mtDNA were screened. The results showed that the frequency of the presence of the 4977 bp deletion was 8.33% in Bai nationality males with fertility, 64.96% in Bai nationality males with infertility, 5.83% in Han nationality males with fertility, 70.25% in Han nationality males with infertility. The frequency of the deleted mtDNA 4977 bp in the spermatozoa with poor motility was significantly higher than those in the spermatozoa with good motility(P<0.01). In addition, there were no significant differences between Bai and Han male with infertility(P> 0.05). It could be concluded that mtDNA 4977 bp deletion have close association of asthenozoospermia, mtDNA 4977 bp deletion may play an important role in the pathophysiology of male infertility for both Han and Bai males in Dali district, Yunnan province