河南漢族STR遺傳多態(tài)性及其在同胞鑒定中的應(yīng)用
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本文關(guān)鍵詞: 短串聯(lián)重復(fù)序列(STR) 同胞鑒定 D2S1338基因座 D8S1132基因座 遺傳多態(tài)性 出處:《鄭州大學(xué)》2006年碩士論文 論文類型:學(xué)位論文
【摘要】:短串聯(lián)重復(fù)序列(short tandem repeats,STR)多位于非編碼區(qū),人類基因組平均每6~10kb就有1個(gè)STR基因座。STR在群體中變異大,但在家族中穩(wěn)定遺傳,為個(gè)人識(shí)別和親子鑒定提供了高信息基因座的豐富來源,作為一種理想的遺傳標(biāo)記被廣泛應(yīng)用于法醫(yī)學(xué)親子鑒定、遺傳病診斷和器官移植等領(lǐng)域。 法醫(yī)物證學(xué)工作中,雙親標(biāo)準(zhǔn)三聯(lián)體、單親二聯(lián)體鑒定的技術(shù)已十分成熟。但當(dāng)由于某種原因不能獲得父、母遺傳信息時(shí),往往需要進(jìn)行同胞親緣關(guān)系鑒定。目前,同胞親緣關(guān)系鑒定多采用線粒體DNA測(cè)序、Y染色體多態(tài)性分析(如STR分型、SNP分型)等方法,常染色體多態(tài)性分析(如STR分型、SNP分型)用于同胞親緣關(guān)系鑒定的報(bào)道較少。線粒體DNA突變率高而且存在異質(zhì)性,影響鑒定結(jié)果的準(zhǔn)確性。Y染色體STR僅適用于男性個(gè)體之間的親緣關(guān)系鑒定,而且Y-STR位點(diǎn)數(shù)量有限,有的基因座雜合度不高,其應(yīng)用受到局限。 由于缺少足夠的資料和準(zhǔn)確的判斷依據(jù),目前開展同胞關(guān)系鑒定的機(jī)構(gòu)較少,我室也尚未能開展此項(xiàng)鑒定,不能滿足社會(huì)的需求。本文利用常染色體STR多態(tài)性好、位點(diǎn)多、共顯性穩(wěn)定遺傳等特點(diǎn),分析常染色體STR分型技術(shù)在同胞親緣關(guān)系鑒定中的應(yīng)用,為建立簡(jiǎn)便易行、快捷有效的同胞關(guān)系鑒定的方法提供可靠的群體資料和判斷標(biāo)準(zhǔn),為開展此項(xiàng)工作奠定基礎(chǔ)。并調(diào)查河南漢族群體中,D2S1338、D8S1132基因座的基因型頻率,,獲得群體遺傳學(xué)數(shù)據(jù),以期為這些基因座在法醫(yī)學(xué)、遺傳學(xué)方面的應(yīng)用奠定基礎(chǔ)。 方法 采集80對(duì)同胞個(gè)體、80對(duì)無關(guān)個(gè)體以及120名河南漢族無血緣關(guān)系個(gè)體的EDTA抗凝血樣,用酚-氯仿法提取DNA,應(yīng)用多重PCR擴(kuò)增、聚丙烯酰胺凝膠
[Abstract]:Short tandem repeats (STRs) are mostly located in non-coding regions. On average, one STR locus per 6kb in human genome is highly variable in population, but stable in family. It provides a rich source of high information loci for personal identification and paternity testing. As an ideal genetic marker, it is widely used in forensic paternity testing, genetic disease diagnosis and organ transplantation. In forensic forensics, the technology of two-parent standard triplet and single-parent diplet identification is very mature. However, when paternal and maternal genetic information cannot be obtained for some reason, sibling kinship identification is often needed. At present, Sibling phylogenetic analysis was carried out by mitochondrial DNA sequencing and Y chromosome polymorphism analysis (such as STR typing). Autosomal polymorphism analysis (such as STR genotyping) was rarely reported for sibling genetic identification. Mitochondrial DNA mutation rate was high and heterogeneity existed. The accuracy of the identification results. Y chromosome STR is only suitable for the identification of genetic relationship among male individuals. Moreover, the number of Y-STR loci is limited, and some loci heterozygosity is not high, so its application is limited. Due to the lack of sufficient data and accurate basis of judgment, there are few institutions that carry out sibling relationship identification, and our laboratory has not been able to carry out this identification, which can not meet the needs of society. In this paper, autosomal STR polymorphism is good and there are many loci. The application of autosomal STR typing technique in sibling kinship identification was analyzed in order to provide reliable group data and criteria for establishing a simple, fast and effective sibling relationship identification method. To lay a foundation for this work, and to investigate the genotype frequency of D2S1338 / D8S1132 locus in Henan Han population, and to obtain population genetic data, so as to lay a foundation for the application of these loci in forensic medicine and genetics. Methods EDTA anticoagulant samples were collected from 80 unrelated pairs of sibling individuals and 120 unrelated individuals from Henan Han nationality. The PCR was extracted by phenol-chloroform method. Polyacrylamide gel was used to amplify the polyacrylamide gel.
【學(xué)位授予單位】:鄭州大學(xué)
【學(xué)位級(jí)別】:碩士
【學(xué)位授予年份】:2006
【分類號(hào)】:R394
【引證文獻(xiàn)】
相關(guān)期刊論文 前1條
1 宋麗君;郭嘉林;陳輝;周軍衛(wèi);李曉文;;利用常染色體STR多態(tài)性進(jìn)行同胞鑒定5例[J];鄭州大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2010年06期
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