印度北部地区弱精症患者中 DNAH6 和 ATPase6（线粒体 DNA）基因的分子特征。

Molecular characterization of DNAH6 and ATPase6 (Mitochondrial DNA) genes in asthenozoospermia patients in the northern region of India.

机构信息

Department of Anatomy, Maulana Azad Medical College, New Delhi, 110002, India.

IVF and Reproductive Biology Centre, Maulana Azad Medical College, New Delhi, 110002, India.

出版信息

BMC Urol. 2024 Aug 27;24(1):180. doi: 10.1186/s12894-024-01505-9.

DOI:10.1186/s12894-024-01505-9

PMID:39192248

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11351781/

Abstract

BACKGROUND

Male infertility due to spermatogenesis defects affects millions of men worldwide. However, the genetic etiology of the vast majority remains unclear. The present study was undertaken to assess the association of DNAH6 and ATPase6 genes in asthenozoospermia patients in the northern region of India.

METHODS

A total of 60 semen samples were collected for the study, of which 30 were from the case group and 30 were from the control group. The semen samples for the case group (asthenozoospermia) and control groups were collected from IVF and Reproductive Biology Centre, Maulana Azad Medical College, New Delhi. Sperm count and motility were classified as per World Health Organization (WHO 2021) protocol. A total genomic DNA was extracted as per the stranded TRIZOL method with little modification.

RESULTS

In-vitro molecular characterizations of DNAH6 and ATPase6 genes in both groups were checked by Polymerase Chain Reaction (PCR). The 675 bp and 375 bp amplicons were amplified using PCR for ATPase6 and DNAH6 genes. Our study results showed a significant (P ≤ 0.05) null deletion of DNAH6 and ATPase6 genes in asthenozoospermia patients as compared to the control. We found the significant null deletion of DNAH6 in case 45.0%, and the control group was 11.7%. However, in the case of APTase6, it was 26.7% and 10.0%, respectively.

CONCLUSIONS

Our study concluded that the presence of DHAH6 and ATPase6 genes had a significant impact on male infertility.

摘要

背景

由于精子发生缺陷导致的男性不育症影响了全球数以百万计的男性。然而，绝大多数的遗传病因仍不清楚。本研究旨在评估 DNAH6 和 ATPase6 基因在印度北部地区弱精症患者中的关联。

方法

本研究共收集了 60 份精液样本，其中 30 份来自病例组，30 份来自对照组。病例组（弱精症）和对照组的精液样本均来自新德里的 Maulana Azad 医学学院的 IVF 和生殖生物学中心。精子计数和活力根据世界卫生组织（WHO 2021）的协议进行分类。根据略有修改的链特异性 TRIZOL 方法提取总基因组 DNA。

结果

通过聚合酶链反应（PCR）对两组 DNAH6 和 ATPase6 基因进行体外分子特征分析。使用 PCR 扩增 ATPase6 和 DNAH6 基因的 675bp 和 375bp 扩增子。我们的研究结果表明，与对照组相比，弱精症患者的 DNAH6 和 ATPase6 基因存在显著（P≤0.05）的缺失。我们发现病例组中 DNAH6 的显著缺失为 45.0%，对照组为 11.7%。然而，在 APTase6 中，分别为 26.7%和 10.0%。