土耳其的下一代测序不孕症检测板：初步结果
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
作者信息
Ikbal Atli E, Yalcintepe S, Atli E, Demir S, Gurkan H
机构信息
Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.
出版信息
Balkan J Med Genet. 2025 Mar 6;27(2):49-57. doi: 10.2478/bjmg-2024-0019. eCollection 2024 Dec.
BACKGROUND
Male infertility is a complex pathophysiological disorder. At least 2000 genes are implicated in the etiology of male infertility, making it a very complex genetic condition. In cases of male infertility, genetic testing using next-generation sequencing (NGS) technology may be useful for diagnosis. Thus, the purpose of this investigation was to apply the diagnostic offer for genetic variant identification using an NGS panel.
METHODS
We developed an NGS gene panel that we used in 85 infertile male patients. The panel consisted of 132 genes exploring the genetic causes of male infertility; namely spermatogenesis failure due to single-gene mutations, central hypogonadism, androgen insensitivity syndrome, congenital hypopituitarism, and primary ciliary dyskinesia etc.
RESULTS
A total of 85 patients (85 males) between 21 year and 45 years old were included in the study group. NGS analysis had been applied in all the primary infertility cases. As a result of NGS analysis, 58 clinical variants in 28 genes were detected in 41 patients (%48.23- 41/85).
CONCLUSION
Consequently, pre-diagnostic genes included in a custom-made NGS panel test can enhance genetic diagnostic testing and have an impact on the clinical management of male infertility.
背景
男性不育是一种复杂的病理生理紊乱。至少有2000个基因与男性不育的病因有关，使其成为一种非常复杂的遗传疾病。在男性不育病例中，使用下一代测序（NGS）技术进行基因检测可能有助于诊断。因此，本研究的目的是应用NGS基因 panel 进行基因变异鉴定的诊断方法。
方法
我们开发了一个NGS基因 panel，并将其应用于85例不育男性患者。该 panel 由132个基因组成，用于探索男性不育的遗传原因；即由于单基因突变导致的精子发生失败、中枢性性腺功能减退、雄激素不敏感综合征、先天性垂体功能减退和原发性纤毛运动障碍等。
结果
研究组共纳入85例年龄在21岁至45岁之间的患者（85名男性）。所有原发性不育病例均应用了NGS分析。NGS分析结果显示，41例患者（48.23% - 41/85）中检测到28个基因的58个临床变异。
结论
因此，定制的NGS panel 检测中包含的诊断前基因可以加强基因诊断检测，并对男性不育的临床管理产生影响。
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