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印度古吉拉特邦不育男性Y染色体无精子症因子区域微缺失的基因扫描

Gene Scanning for Microdeletions in the Azoospermia Factor Region of Y-Chromosome in Infertile Men of Gujarat, India.

作者信息

Nailwal Mili, Chauhan Jenabhai B

机构信息

Research Scholar, Department of Genetics, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences (ARIBAS), Anand, Gujarat, India.

Associate Professor and Head, Department of Genetics, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences (ARIBAS), Anand, Gujarat, India.

出版信息

J Clin Diagn Res. 2017 Aug;11(8):GC01-GC06. doi: 10.7860/JCDR/2017/26750.10350. Epub 2017 Aug 1.

Abstract

INTRODUCTION

Azoospermia Factor (AZF) microdeletions in Yq chromosome is one of the most frequent genetic cause associated with failure of spermatogenesis in males with infertility.

AIM

To figure out the Yq chromosome microdeletions frequency in infertile men from Gujarat region of India.

MATERIALS AND METHODS

In this study, 141 infertile men with azoospermia (n=41) and oligozoospermia (n=100) were examined along with 159 normozoospermic men. Eleven different markers spanning the azoospermia factor region of human Yq chromosome, amplified by sequence-tagged site Polymerase Chain Reaction (PCR) to detect the microdeletions. Sperm morphological analysis was done using papanicolau staining method.

RESULTS

Thirty four infertile men out of 141 presented Yq chromosome microdeletions. The frequency of AZF microdeletions was 31.71% in azoospermia and 21% in oligozoospermia patients. Only two oligozoospermia patients showed morphological defects.

CONCLUSION

Due to the presence of high frequency of Yq chromosome microdeletions in Gujarati infertile men, it is imperative to implement the AZF microdeletion screening in such patients as it results in male spermatogenesis dysfunctioning.

摘要

引言

Yq染色体上的无精子症因子(AZF)微缺失是导致男性不育症患者精子发生失败的最常见遗传原因之一。

目的

了解印度古吉拉特邦地区不育男性Yq染色体微缺失的频率。

材料与方法

本研究检查了141例无精子症(n = 41)和少精子症(n = 100)的不育男性以及159例正常精子症男性。通过序列标签位点聚合酶链反应(PCR)扩增跨越人类Yq染色体无精子症因子区域的11个不同标记,以检测微缺失。使用巴氏染色法进行精子形态分析。

结果

141例不育男性中有34例存在Yq染色体微缺失。无精子症患者中AZF微缺失的频率为31.71%,少精子症患者中为21%。只有两名少精子症患者表现出形态缺陷。

结论

由于古吉拉特邦不育男性中Yq染色体微缺失的频率较高,因此必须对这类患者进行AZF微缺失筛查,因为这会导致男性精子发生功能障碍。

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