男性不育的遗传因素研究进展

doi:10.3969/j.issn.2095-1396.2016.05.008

摘要/Abstract

摘要： 男性不育的病因复杂，诸多内外因素均可致男性不育，其中生育相关基因缺陷所占比例高达50%，是遗传性男性不育的主要因素。遗传性男性不育的遗传缺陷主要包括非整倍体染色体变异、结构性染色体变异、基因拷贝数变异及单基因变异，且随着近年来相关研究的新进展不断深入。该文分别从上述遗传缺陷四个层面的变异着手，概要了男性不育的遗传因素主要研究进展。

关键词: 男性不育, 遗传缺陷, 染色体变异, 基因拷贝数变异, 单基因变异

Abstract: Male infertility was caused by mutiple factors，including both genetic and environmental factors. Nearly 50% of clinic male infertility disorders were from genetic defects，which had shown mainly four different variation hierarchies，aneuploid chromosome variation，structural chromosome variation，gene copy number variation and single gene mutation. In recent years the increasingly deep recognition of genetic male infertility has been witnessed. This review summarizes the research progress of the genetic factors for male infertility on the aspects of epidemiology，mechanisms and pathological changes，from aforesaid four different variations.

Key words: male infertility, genetic defect, chromosome variation, gene copy number variation, single gene mutation

陈文杨, 沈丽霞, 张癸荣. 男性不育的遗传因素研究进展[J]. 神经药理学报, 2016, 6(5): 53-64.

CHEN Wen-yang, SHEN Li-xia, ZHANG Gui-rong. Progress in Genetic Factors for Male Infertility[J]. ACTA NEUROPHARMACOLOGICA, 2016, 6(5): 53-64.

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