人精子线粒体基因突变与弱精症的相关性研究

Study on the relationship between human sperm mitochondrial gene mutation and asthenospermia

目的探讨精子线粒体DNA突变与弱精症的相关性,为弱精症的临床诊疗提供科学依据。方法采用高通量基因测序技术对46例弱精症患者和40例健康男性进行精子线粒体基因组测序,测序结果与剑桥版线粒体基因组数据库(rCRS NC_012920)比对,分析其突变情况。结果研究组检出5例线粒体DNA突变,包括TP基因(m.15995G>A)突变2例,ND4基因(m.11981C>T)、CYB基因(m.15002G>A)和TF基因(m.586G>A)突变各1例。其中ND4基因(m.11981C>T)和CYB基因(m.15002G>A)2个变异位点国内外尚未见报道。对照组检出TF基因(m.586G>A)突变1例。两组间比较差异无统计学意义(P>0.05)。结论精子线粒体ND4基因(m.11981C>T)、CYB基因(m.15002G>A)、TP基因(m.15995G>A)和TF基因(m.586G>A)突变与弱精子症无相关性,但仍需要进一步的研究。

Objective To investigate the relationships between sperm mitochondrial DNA mutations and asthenospermia,hoping to provide a scientific basis for the clinical diagnosis and treatment of asthenospermia.Methods Sperm mitochondrial genome sequencing was performed on 46 cases of asthenospermia patients and 40 healthy men using high-throughput gene sequencing technology.Mitochondrial DNA variants were yielded by comparing sequencing results of the complete mitochondrial genome with the Cambridge sequence(rCRS)GenBank number NC_012920.Results The experimental group detected 5 cases of mutations,including 2 cases of TP gene(m.15995G>A)mutation,ND4 gene(m.11981C>T),CYB gene(m.15002G>A)and TF gene(m.15995G>A.586G>A)mutations in 1 case each.Among them,two mutation sites in ND4 gene(m.11981C>T)and CYB gene(m.15002G>A)have not been reported in local and overseas.One case of mutation in TF gene(m.586G>A)was detected in the control group.There was no significant difference between the two groups(P>0.05).Conclusions Mutations in the mitochondrial ND4 gene(m.11981C>T),CYB gene(m.15002G>A),TP gene(m.15995G>A)and TF gene(m.586G>A)are not associated with asthenospermia,However,future research in this area is needed.