Y染色体微缺失与男性不育的相关性研究

发布时间：2018-04-05 03:13

本文选题：男性不育　切入点：Y染色体微缺失　出处：《河北联合大学》2014年硕士论文

【摘要】：目的Y染色体微缺失是导致男性不育的第二大遗传学因素，已成为无精症/严重少精症患者的常规检查项目。普遍认为，AZF区典型缺失（classic AZF deletion）与精子发生异常和男性不育有关。目前对Y染色体微缺失的检测多为针对AZF区典型缺失的检测。对于AZFc区部分缺失和复制的研究相对较少，缺乏有效的检测手段，但由于其发生率相对较高，对男性不育的影响尚无定论，仍有很高的研究价值。本研究旨在建立一种可准确检测Y染色体微缺失的多重定量荧光PCR复合扩增体系，可同时对典型缺失、部分缺失、复制及性染色体异常进行检测。通过对实际临床样本的检测，验证该体系的稳定性并探讨Y染色体微缺失各种缺失，特别是部分缺失/复制与男性不育的临床相关性，以期为临床诊断和治疗提供理论依据。方法首先确定要检测的缺失类型，选取适宜位点，然后对体系进行建立、验证并优化。完成体系构建工作后，选取393例男性不育样本作为实验组，200例正常男性样本作为对照组进行实验，确定Y染色体微缺失的各类缺失类型及发生频率。最后通过数据分析得出相关性结论。结果成功建立了一个30重的Y染色体微缺失检测体系，实现了一管式扩增检测。实际临床样本的最终检测结果为实验组中发现XXY样本54例、XYY样本2例、典型缺失样本46例、部分缺失或复制样本56例；对照组中部分缺失或复制样本共28例。结论1所构建的检测体系稳定性好，准确率高。可实现对Y染色体典型缺失、部分缺失、部分复制及克氏综合征等染色体异常的同时检测，为临床检测提供了便利。2通过对实际临床样本与对照样本的检测，在对照组样本中未发现AZF区典型缺失及染色体异常现象。3AZFc复制与精子发生障碍存在相关性；各种典型缺失的发生频率与预期相符；部分缺失在不育与可育人群中出现频率无统计学意义。
[Abstract]:The purpose of Y chromosome microdeletion is the result of second genetic factors of male infertility, azoospermia / has become a routine examination in patients with severe oligozoospermia. Generally, typical deletions in the AZF region (classic AZF deletion) and the abnormal spermatogenesis and male infertility. The Y staining microdeletion detection for multi according to the typical deletion of the AZF region. For the study of partial deletion and duplication of AZFc area is relatively small, the lack of effective means of detection, but due to the relatively high rate of occurrence, impact on male infertility is inconclusive, still has high research value.
The purpose of this study is to establish a multiplex quantitative fluorescent PCR multiplex amplification system can accurately detect microdeletions of the Y chromosome, and typical deletion, deletion, duplication and abnormal sex chromosome were detected. Through the detection of clinical samples, verify the stability of the system and to explore a variety of microdeletions of the Y chromosome deletion, particularly in clinical correlation between deletion / replication and male infertility, in order to provide theoretical basis for clinical diagnosis and treatment.
The method first determines to detect deletion types, select suitable sites, then the system was established, validated and optimized. To complete the construction work system, a total of 393 cases of male infertility samples as experimental group, 200 cases of normal male samples as control group. In the experiment, determine the various types of deletion of Y chromosome microdeletions and occurrence frequency finally through the data analysis conclusions.
The microdeletion detection system of a 30 Y chromosome was successfully established, implemented a tube amplification. The actual measuring results of clinical samples for experimental group XXY was found in 54 samples, 2 cases of XYY samples, typical missing samples in 46 cases, partial deletions or duplications of samples in 56 cases; control group in part a total of 28 cases of missing or duplicate sample.
Conclusion the 1 detection system constructed by good stability, high accuracy can be achieved on the Y chromosome. The typical deletion, deletion, partial replication and Klinefelter syndrome and detection of chromosomal abnormalities at the same time, provides a convenient.2 through to the actual clinical samples and control samples detection for clinical diagnosis in the.3AZFc AZF area of typical lack of control and the phenomenon of abnormal chromosome replication occurs disorder associated with sperm were found in the samples of group; typical deletion frequency in line with expectations; some deficiency in sterile and fertile population frequency was not statistically significant.

【学位授予单位】：河北联合大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R698.2

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