精子鞭毛轴丝是精子运动的主要动力来源,参与鞭毛组装和运动调控的基因变异可导致精子活力降低,从而引起弱精子症(asthenozoospermia,ASZ).常见的弱精子症包括两大类:(1)精子鞭毛在光学显微镜下无明显畸形,(2)精子鞭毛多发形态异常(multiple morphological abnormal-ities of the sperm flagella,MMAF).弱精子症主要由轴丝组分编码基因变异所致,在过去的十年里,在揭示致病基因方面取得了显著进展.在MMAF的遗传研究领域,中国和法国是两个涉及比较广的国家.通过系统文献检索和Meta分析中国和法国关于MMAF的基因变异研究,纳入1 796名不育男性参与者,结果表明,在中国的弱精子症患者中,DNAH1基因的突变比例显著高于法国(OR=4.97,95％CI=[1.70;14.49],P＜0.01).而CFAP43、CFAP44、CFAP251等基因在两国间未显示显著性差异(P＞0.05).这一发现为理解弱精子症的遗传变异的多样性奠定了基础.
Abnormal Genes Related to the Structure of Sperm Flagellar Axoneme and Asthenozoospermia
Sperm flagellar axoneme is the main power source of sperm motility.Gene mutations involved in flagellar assembly and motility regulation can lead to decreased sperm motility,resulting in ASZ(asthenozoo-spermia).There are two common types of asthenozoospermia:(1)no obvious deformity of sperm flagella under optical microscope;(2)MMAF(multiple morphological abnormalities of the sperm flagella).Asthenozoospermia is mainly caused by mutations in genes encoding axoneme components.In the past decade,significant progress has been made in revealing pathogenic genes.In the field of genetic research of MMAF,China and France are the two most widely involved countries.Through systematic literature search and meta-analysis of MMAF gene mutation studies in China and France,1 796 infertile male participants were included.The results showed that the propor-tion of DNAH1 gene mutation in Chinese asthenozoospermia patients was significantly higher than that in France(OR=4.97,95％CI=[1.70;14.49],P＜0.01).However,CFAP43,CFAP44,CFAP251 and other genes showed no significant difference between the two countries(P＞0.05).This finding lays a foundation for understanding the di-versity of genetic variations in asthenozoospermia.
asthenozoospermiamultiple morphological abnormalities of the sperm flagellaChinaFrancedifferences
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