【摘要】： 目的 (1) 建立DYS390、DYS391和DYS393基因座的復(fù)合擴(kuò)增方法。(2) 調(diào)查太原地區(qū)漢族男性群體Y染色體DYS390、DYS391和DYS393基因座等位基因和單倍型頻率分布以及群體差異情況，為群體遺傳學(xué)、法醫(yī)學(xué)個(gè)體識(shí)別及親子簽定提供計(jì)算數(shù)據(jù)。 方法 (1)樣本采集：隨機(jī)抽取163名太原地區(qū)漢族無(wú)親緣關(guān)系的男性個(gè)體的靜脈血，EDTA抗凝，進(jìn)行DYS390、DYS391和DYS393基因座等位基因及單倍型頻率分布調(diào)查；采集同一尸體血液、肌肉、肝臟、腎組織進(jìn)行同一性檢測(cè)；采集20例兩代家系血進(jìn)行突變觀察；取20例女性個(gè)體血進(jìn)行男性特異性檢驗(yàn)。(2)DNA提取、PCR和測(cè)序：改良的TKM1法和Chelex-100法提取DNA，復(fù)合擴(kuò)增Y染色體DYS390、DYS391 山兩醫(yī)豐}大學(xué)2003年碩卜學(xué)位論文 和。YS393二基因座，PAG電泳分型，銀染顯色。對(duì)侮一基因 座最高頻率等位基因的進(jìn)行測(cè)序分析。(3)數(shù)據(jù)處理:等位 基因及單倍型的頻率采用直接計(jì)算法，與其他人群比較采用 FISher’S精確檢驗(yàn)統(tǒng)計(jì)。 結(jié)果(1)3個(gè)基因座復(fù)合擴(kuò)增顯示:本實(shí)驗(yàn)設(shè)_、丫的條件卜， 3個(gè)華因座擴(kuò)增均衡，且PAGE分型清晰，互不十?dāng)_，效果理 想C(2)太原地區(qū)漢族男性oys39o、DYs391和DYS393基 因座分別觀察到5、6和5個(gè)等位基因，基因多樣性分別為 0.70584、0.4476和0.56282。nYS390基因座共觀察到6個(gè)等 位去誓區(qū)1，分別為DYS39O*19、DYS390*22、DYS39O*23、 Dy’5390*24、DYS390*25和DYS39O*26;DYS393基因座共 觀察到5個(gè)等位基Ik1，分別為DYS393*11、DYS393*12 D丫5393*13、DYS393*14和DYS393*15;DYS391基I大l座共 觀察到5個(gè)等位基因，分別為DYS391*東0YS391*9、 D、’5391‘10、DYS391*11和DYS391*12。對(duì)這3個(gè)基l天1座構(gòu) 成的單倍型進(jìn)行觀察，，163例共檢測(cè)到37種單倍型，單倍型 多樣性為0.9485。FISher’S精確檢驗(yàn)統(tǒng)計(jì)一分析一表明，DYS390、 山西醫(yī)科大學(xué)2003年碩十學(xué)位論文 DY，391等位基因頻率分布與國(guó)內(nèi)不同地區(qū)差異不明顯，與自 種人有明顯差異。DYS393在國(guó)內(nèi)與沈陽(yáng)地區(qū)差異不顯著，與 成都、臺(tái)灣地區(qū)差異顯著，與白種人差異顯著。(3)同一尸 體血‘液、肌肉、肝臟和腎組織檢測(cè)結(jié)果分型一致。(4)20例 兩代家系觀察，未見突變。(5)20例女性樣本DNA無(wú)擴(kuò)增 產(chǎn)物。 結(jié)論(1)Y染色體DYS39O、DYS391和DYS393基因座多 態(tài)性較高，本實(shí)驗(yàn)所得太原地區(qū)漢族男性DYS390、DYS391 和DYS393基因座等位基因和基因多樣性數(shù)據(jù)可應(yīng)用于法醫(yī) 學(xué)鑒定和遺傳學(xué)分析。 (2)本文所建立的DYS39O、DYS391和DYS393基區(qū)} 座的復(fù)合擴(kuò)增體系具有簡(jiǎn)便、快捷、省材的特點(diǎn)，且分型準(zhǔn) 確清晰，尤其適用于法醫(yī)學(xué)檢案。
[Abstract]:Objective (1) To establish a multiplex amplification method for DYS390, DYS39 1 and DYS393 loci. (2) To investigate the allele and haplotype frequencies of Y chromosome DYS390, DYS39 1 and DYS393 loci in Taiyuan Han male population, and to provide computational data for population genetics, forensic individual identification and parent-child signature.
Methods (1) Sample collection: 163 unrelated male individuals in Taiyuan were randomly selected for EDTA anticoagulation, DYS390, DYS39 1 and DYS393 loci allele and haplotype frequency distribution were investigated, blood, muscle, liver and kidney tissues of the same cadaver were collected for identity testing, and blood transfusion of 20 two-generation families were collected. DNA extraction, PCR and sequencing: DNA was extracted by modified TKM1 and Chelex-100 methods, and Y chromosome DYS390 and DYS391 were amplified.
Shan two, Feng Feng} University, 2003
And.YS393 two loci, PAG electrophoresis typing, silver staining.
The highest frequency alleles were sequenced and analyzed. (3) data processing: alleles.
The frequencies of genes and haplotypes were directly calculated and compared with other populations.
FISher 'S exact test statistics.
Results (1) 3 loci multiplex amplification showed that:
The 3 Huayin blocks were amplified and balanced, and the PAGE typing was clear, and there were no ten disturbances.
Think C (2) oys39o, DYs391 and DYS393 bases of Han nationality in Taiyuan area.
5,6 and 5 alleles were observed in the locus respectively.
6 0.70584,0.4476 and 0.56282.nYS390 loci were observed.
Take the oath area 1, DYS39O*19, DYS390*22, DYS39O*23, respectively.
Dy '5390*24, DYS390*25 and DYS39O*26; DYS393 loci
5 alleles Ik1, DYS393*11 and DYS393*12, were observed.
D ya 5393*13, DYS393*14 and DYS393*15; DYS391 based I large L block.
5 alleles were observed, DYS391* East 0YS391*9, respectively.
D, '5391', 10, DYS391*11 and DYS391*12. on these 3 bases l days 1 buildings.
Haplotypes were observed, and 37 haplotypes were detected in 163 cases.
Diversity is 0.9485.FISher 'S exact test statistics one analysis shows that DYS390,
Shanxi Medical University master degree thesis 2003 ten
The frequency distribution of DY and 391 alleles was not significantly different from that in different regions of China.
There is a significant difference between.DYS393 and Shenyang.
The difference between Chengdu and Taiwan is significant, and is significantly different from that of Caucasians. (3) the same corpse.
The results were identical in body fluid, muscle, liver and kidney. (4) 20 cases.
No mutation was observed in the two generation family. (5) there was no DNA amplification in 20 female samples.
Product.
Conclusion (1) the DYS39O, DYS391 and DYS393 loci of Y chromosome are numerous.
The male DYS390 of Han nationality in Taiyuan area was DYS391.
The allele and gene diversity data of DYS393 loci can be applied to forensic science.
Identification and genetic analysis.
(2) the DYS39O, DYS391 and DYS393 base areas established in this paper}
The multiplex amplification system is simple, fast and economical.
It is clear and clear, especially for forensic examination.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2003
【分類號(hào)】：D919

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