Utility of exome sequencing in primary spermatogenic disorders: From research to diagnostics

IF 3.2 2区 医学 Q1 ANDROLOGY
Andrology Pub Date : 2024-09-19 DOI:10.1111/andr.13753
Antoni Riera-Escamilla, Liina Nagirnaja
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引用次数: 0

Abstract

Primary spermatogenic disorders represent a severe form of male infertility whereby sperm production is impaired due to testicular dysfunction, leading to reduced quality or quantity of spermatozoa. Gene-centered research has certainly demonstrated the importance of the genetic factor in the etiology of both poor sperm morphology or motility and reduced sperm count. In the last decade, next-generation sequencing has expanded the research to whole exome which has transformed our understanding of male infertility genetics, but uncertainty persists in its diagnostic yield, especially in large unrelated populations.
外显子组测序在原发性精子生成障碍中的应用:从研究到诊断
原发性生精障碍是一种严重的男性不育症,由于睾丸功能障碍,精子生成受到影响,导致精子质量或数量下降。以基因为中心的研究无疑证明了遗传因素在精子形态或活力低下以及精子数量减少的病因中的重要性。近十年来,下一代测序技术将研究扩展到了全外显子组,这改变了我们对男性不育遗传学的认识,但其诊断结果仍存在不确定性,尤其是在大量非相关人群中。
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来源期刊
Andrology
Andrology ANDROLOGY-
CiteScore
9.10
自引率
6.70%
发文量
200
期刊介绍: Andrology is the study of the male reproductive system and other male gender related health issues. Andrology deals with basic and clinical aspects of the male reproductive system (gonads, endocrine and accessory organs) in all species, including the diagnosis and treatment of medical problems associated with sexual development, infertility, sexual dysfunction, sex hormone action and other urological problems. In medicine, Andrology as a specialty is a recent development, as it had previously been considered a subspecialty of urology or endocrinology
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