本文選題：男性不育　切入點(diǎn)：Y染色體微缺失　出處：《河北聯(lián)合大學(xué)》2014年碩士論文

【摘要】：目的Y染色體微缺失是導(dǎo)致男性不育的第二大遺傳學(xué)因素，已成為無(wú)精癥/嚴(yán)重少精癥患者的常規(guī)檢查項(xiàng)目。普遍認(rèn)為，AZF區(qū)典型缺失（classic AZF deletion）與精子發(fā)生異常和男性不育有關(guān)。目前對(duì)Y染色體微缺失的檢測(cè)多為針對(duì)AZF區(qū)典型缺失的檢測(cè)。對(duì)于AZFc區(qū)部分缺失和復(fù)制的研究相對(duì)較少，缺乏有效的檢測(cè)手段，但由于其發(fā)生率相對(duì)較高，對(duì)男性不育的影響尚無(wú)定論，仍有很高的研究?jī)r(jià)值。 本研究旨在建立一種可準(zhǔn)確檢測(cè)Y染色體微缺失的多重定量熒光PCR復(fù)合擴(kuò)增體系，可同時(shí)對(duì)典型缺失、部分缺失、復(fù)制及性染色體異常進(jìn)行檢測(cè)。通過(guò)對(duì)實(shí)際臨床樣本的檢測(cè)，驗(yàn)證該體系的穩(wěn)定性并探討Y染色體微缺失各種缺失，特別是部分缺失/復(fù)制與男性不育的臨床相關(guān)性，以期為臨床診斷和治療提供理論依據(jù)。 方法首先確定要檢測(cè)的缺失類(lèi)型，選取適宜位點(diǎn)，然后對(duì)體系進(jìn)行建立、驗(yàn)證并優(yōu)化。完成體系構(gòu)建工作后，選取393例男性不育樣本作為實(shí)驗(yàn)組，200例正常男性樣本作為對(duì)照組進(jìn)行實(shí)驗(yàn)，確定Y染色體微缺失的各類(lèi)缺失類(lèi)型及發(fā)生頻率。最后通過(guò)數(shù)據(jù)分析得出相關(guān)性結(jié)論。 結(jié)果成功建立了一個(gè)30重的Y染色體微缺失檢測(cè)體系，實(shí)現(xiàn)了一管式擴(kuò)增檢測(cè)。實(shí)際臨床樣本的最終檢測(cè)結(jié)果為實(shí)驗(yàn)組中發(fā)現(xiàn)XXY樣本54例、XYY樣本2例、典型缺失樣本46例、部分缺失或復(fù)制樣本56例；對(duì)照組中部分缺失或復(fù)制樣本共28例。 結(jié)論1所構(gòu)建的檢測(cè)體系穩(wěn)定性好，準(zhǔn)確率高。可實(shí)現(xiàn)對(duì)Y染色體典型缺失、部分缺失、部分復(fù)制及克氏綜合征等染色體異常的同時(shí)檢測(cè)，為臨床檢測(cè)提供了便利。2通過(guò)對(duì)實(shí)際臨床樣本與對(duì)照樣本的檢測(cè)，在對(duì)照組樣本中未發(fā)現(xiàn)AZF區(qū)典型缺失及染色體異�，F(xiàn)象。3AZFc復(fù)制與精子發(fā)生障礙存在相關(guān)性；各種典型缺失的發(fā)生頻率與預(yù)期相符；部分缺失在不育與可育人群中出現(xiàn)頻率無(wú)統(tǒng)計(jì)學(xué)意義。
[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.

【學(xué)位授予單位】：河北聯(lián)合大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類(lèi)號(hào)】：R698.2

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 楊艷紅,姚元慶;男性不育Y染色體微缺失的診斷及臨床意義[J];中國(guó)優(yōu)生與遺傳雜志;2004年03期

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本文編號(hào)：1712934