NGHIÊN CỨU XÂY DỰNG QUY TRÌNH CHẨN ĐOÁN VI MẤT ĐOẠN NHỎ VÙNG MỞ RỘNG TRÊN NHIỄM SẮC THỂ Y CỦA BỆNH NHÂN VÔ TINH VÀ THIỂU TINH

Abstract

Developing a diagnostic process for detecting small deletions in the expanded AZF region on the Y-chromosome. Objectives and procedures: A research study was conducted to develop a Multiplex PCR (M-PCR) method to accurately and simultaneously detect small deletions in 32 male patients with infertility who were tested for AZF deletions at the Department of Biology and Medical Genetics, Military Medical Academy from 8/2021 to 12/2022. In this study, M-PCR was successfully optimized into 7 reactions arranged according to each AZFabc region, contributing to reducing testing time and detecting 23 STS simultaneously on the Y chromosome with high specificity and cost-effectiveness. Results: AZFa deletions occurred in 2/32 patients (6.25%), while deletions of the AZFa,b,c regions occurred in 6/32 patients (18.75%). The highest deletion rate was 56.24% with combined deletions of AZFb,c in 18 patients. This research has successfully developed a diagnostic process using M-PCR to detect small deletions in the expanded AZF region in male infertility patients. Conclusion: This method can be used for diagnosing small deletions in the expanded AZF region, saving costs and testing time in the future.