本文選題：短串聯(lián)重復(fù)序列 + 多態(tài)性�。� 參考：《鄭州大學(xué)》2006年碩士論文

【摘要】：背景：短串聯(lián)重復(fù)序列(short tandem repeat，，STR)是近年來發(fā)現(xiàn)的，廣泛存在于基因組中的DNA長度多態(tài)性片段，它由2～6個堿基構(gòu)成一個在長度上呈串聯(lián)重復(fù)排列的核心序列。STR因具有分布廣泛、信息量大、高度多態(tài)性、高雜合度、低突變率、檢測簡便、快捷并遵循孟德爾共顯性遺傳規(guī)律等優(yōu)點，成為繼RFLP之后理想的第二代DNA遺傳標(biāo)記，被廣泛應(yīng)用于基因作圖、連鎖分析、基因診斷與產(chǎn)前診斷、遺傳學(xué)、人類學(xué)及法醫(yī)學(xué)個體識別和親權(quán)鑒定、器官移植等領(lǐng)域。STR位點在不同的種族和地區(qū)有很大的差異，河南地處中原、是眾多民族的匯聚地，而其中又以漢族人群居多，因此，河南漢族群體的遺傳學(xué)特征對中國漢族人群有較好的代表性。 20世紀(jì)90年代以來，造血干細胞移植(hematopoietic stem cell transplantation，HSCT)技術(shù)取得飛速發(fā)展，現(xiàn)已成為治療惡性血液病、遺傳性疾病等的主要手段之一。隨著HSCT應(yīng)用范圍的擴大，移植效果日益得到重視，移植后的檢測也將成為HSCT研究中不可缺少的一部分。有學(xué)者將STR應(yīng)用于HSCT后植入證據(jù)的檢測，結(jié)果顯示STR基因位點檢測可用于判斷移植效果、預(yù)防復(fù)發(fā)、實行臨床早期干預(yù)治療等，但定期反復(fù)檢測需長期保留受者移植前的血樣和供者血樣。本實驗首次對河南漢族人群的D7S3048、D4S2639、D14S306、D18S535基因座的多態(tài)性分布情況進行調(diào)查，獲得河南漢族人群D7S3048、D4S2639、D14S306、D18S535基因座的遺傳學(xué)數(shù)據(jù)；并將該4個STR位點與我室前期篩選的F13A01、FESFPS、vWA、CSF1PO、TPOX、TH01等位點聯(lián)合應(yīng)用于HSCT后的監(jiān)測，對其應(yīng)用價值進行評價和驗證；用受者口腔黏膜DNA代替移植前外周血淋巴細胞DNA，比較患者移植后外周血與口腔粘膜DNA的基因型，以解決需多次采集或長期保存供者樣本的困難，建立一種簡便、準(zhǔn)確、早期監(jiān)測外源基因植入效果的技術(shù)，推廣應(yīng)用于臨床。
[Abstract]:Background: short tandem repeat (short tandem repeat STR) is a polymorphic fragment of DNA length found in recent years. It consists of 2 ~ 6 bases to form a core sequence. STR has a wide distribution.Because of its advantages of large amount of information, high polymorphism, high heterozygosity, low mutation rate, simple, fast detection and following Mendelian codominant inheritance, it has become an ideal second generation DNA genetic marker after RFLP, and has been widely used in gene mapping.Linkage analysis, gene diagnosis and prenatal diagnosis, genetics, individual identification and paternity identification in anthropology and forensic medicine, organ transplantation and other fields have great differences in different races and regions. Henan Province is located in the Central Plains.It is the gathering place of many nationalities, and the Han population is the majority among them. Therefore, the genetic characteristics of Henan Han population have a better representation to the Chinese Han population.Since the 1990s, hematopoietic stem cell transplants (HSCTs) have developed rapidly, and have become one of the main methods for the treatment of malignant hematological diseases and hereditary diseases.With the expansion of HSCT application scope, transplantation effect has been paid more and more attention, and post-transplant detection will become an indispensable part of HSCT research.Some scholars used STR to detect the evidence of HSCT implantation. The results showed that the detection of STR gene locus could be used to judge the effect of transplantation, prevent recurrence, and carry out early clinical intervention, etc.But regular repeated tests require long-term retention of pre-transplant and donor blood samples.The polymorphism distribution of D7S3048 / D4S2639 / D14S306/ D18S535 locus in Henan Han population was investigated for the first time, and genetic data of D7S3048 / D4S2639 / D14S306D18S535 locus were obtained.The four STR loci were combined with F13A01FESFPSvWAA CSF1POTPOXT01 to monitor the HSCT, and the application value was evaluated and verified.The peripheral blood lymphocyte DNA was replaced by oral mucosal DNA of recipient before transplantation. The genotypes of DNA in peripheral blood and oral mucosa of patients were compared in order to solve the difficulty of collecting or preserving donor samples for many times, and to establish a simple and accurate method.The technique of early monitoring the effect of exogenous gene implantation was popularized and applied in clinic.
【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2006
【分類號】：R394

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