本文選題：精神發(fā)育遲滯　切入點(diǎn)：EB病毒　出處：《西北大學(xué)》2013年碩士論文

【摘要】：精神發(fā)育遲滯(Mental retardation, MR)是一類神經(jīng)與精神疾病,在人群中發(fā)病率為1-3%,帶給患者、家庭及社會(huì)沉重的經(jīng)濟(jì)與精神負(fù)擔(dān)。發(fā)病因素涉及環(huán)境和遺傳因素,對(duì)其致病機(jī)理研究方興未艾。用EB病毒體外轉(zhuǎn)化人外周血B淋巴細(xì)胞,建立永生細(xì)胞庫(kù),可以源源不斷的為各種復(fù)雜的遺傳性疾病致病機(jī)理研究提供大量材料(細(xì)胞、DNA和蛋白質(zhì)),可擴(kuò)大和保存一些珍貴的遺傳資源,為進(jìn)一步研究致病機(jī)理和干預(yù)奠定基礎(chǔ)。本研究在知情同意的原則下,收集了141例精神發(fā)育遲滯患者及家系成員外周血樣品,利用EB病毒體外轉(zhuǎn)化技術(shù),將MR家系人群外周血B淋巴細(xì)胞轉(zhuǎn)化為類淋巴母細(xì)胞系,建立永生細(xì)胞庫(kù)。建系成功后,采用遺傳學(xué)方法對(duì)其進(jìn)行鑒定。結(jié)果發(fā)現(xiàn),淋巴母細(xì)胞系能夠表達(dá)EB病毒基因,可連續(xù)傳代,擴(kuò)大培養(yǎng),并且保持了成熟B淋巴細(xì)胞的生物學(xué)特性。對(duì)建庫(kù)成功后的細(xì)胞株進(jìn)行了復(fù)蘇和傳代培養(yǎng),結(jié)果發(fā)現(xiàn)在傳到第17代時(shí),細(xì)胞生長(zhǎng)速度開始變慢,經(jīng)半定量RT-PCR檢測(cè),我們發(fā)現(xiàn)cyclin D1、cdc2、p53和c-myc基因的表達(dá)出現(xiàn)異常,推測(cè)其可能是導(dǎo)致細(xì)胞傳代過(guò)程中增殖速度發(fā)生變化的主要原因。
[Abstract]:Mental retardation (MRM) is a kind of neurologic and mental disease, which causes a heavy economic and mental burden to patients, families and society.The pathogenic factors are related to environmental and genetic factors, and the research on the pathogenesis of them is in the ascendant.Human peripheral blood B lymphocytes were transformed with Epstein-Barr virus (EBV) in vitro, and the immortalized cell bank was established.It can provide a large number of materials (cell DNA and protein) for the study of the pathogenesis of various complex genetic diseases. It can expand and preserve some precious genetic resources and lay a foundation for further research on the pathogenicity mechanism and intervention.Based on the principle of informed consent, peripheral blood samples of 141 patients with mental retardation and their family members were collected and transformed into lymphoblastoid cell lines (LMCs) by Epstein-Barr virus (EBV) transformation in vitro.Establish an immortalized cell bank.After the successful establishment of the system, genetic methods were used to identify it.The results showed that the lymphoblastoid cell line could express EB virus gene, be subcultured continuously, expand culture, and maintain the biological characteristics of mature B lymphocytes.The successful cell lines were resuscitated and subcultured. The results showed that the cell growth rate began to slow down at the 17th generation. By semi-quantitative RT-PCR, we found the abnormal expression of p53 and c-myc genes in the cyclin D1 cdc2 gene.It is speculated that it may be the main reason for the change of proliferation rate in the course of cell passage.
【學(xué)位授予單位】：西北大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2013
【分類號(hào)】：R749.93;R394

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本文編號(hào)：1710004