男性生殖遗传学的临床研究进展

Progress in clinical research of male infertility reproductive genetics

男性生殖遗传学异常包括染色体、基因、精子DNA完整性及表观遗传学等多个方面,是导致男性不育的重要病因。随着基因测序技术的进步和辅助生殖技术的广泛应用,男性生殖遗传学已成为近年来的研究热点。本文对近年的男性生殖遗传学临床研究进行了分析和总结。重点探讨了3种常见的男性生殖遗传学疾病:克氏综合征、Y染色体微缺失和先天性输精管缺如。克氏综合征的流行病学现状、临床表现、治疗方法、手术取精成功率等;Y染色体微缺失的流行病学现状、各种分型的临床表现和治疗方法,重点探讨了Y染色体AZFc区缺失的不同治疗方式及妊娠结局;先天性输精管缺如患者的CFTR基因突变情况,及其对生育的影响及治疗策略。指出了目前研究的不足,展望了未来研究的方向。

The abnormalities of male reproductive genetics include chromosomes,genes,sperm DNA integrity and epigenetics,which are important causes of male infertility.With the advancement of gene sequencing technology and the widespread application of assisted reproductive technology,male reproductive genetics has become a research hotspot in recent years.This article analyzes and summarizes the clinical research on male reproductive genetics in recent years.We mainly focus on three common male reproductive genetic diseases:Klinefelter syndrome,Y chromosome microdeletions and congenital absence of vas deferens.Epidemiological status,clinical manifestations,treatment methods of Klinefelter syndrome and sperm retrieval rate after surgery are discussed.Epidemiological status of Y chromosome microdeletions,the clinical manifestations and treatment of different types are also discussed,and the treatment and pregnancy outcomes of AZFc deletion are the main focuses.We discuss CFTR gene mutation in patients with congenital absence of vas deferens,its impacts on fertility and treatment as well.Finally,we point out the shortcomings of current researches,and look forward to the direction of future research.