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中國深圳地區(qū)12個X染色體短串聯(lián)重復序列基因座的遺傳多態(tài)性:一項家系調查分析

發(fā)布時間:2018-07-04 23:48

  本文選題:組織工程 + X染色體。 參考:《中國組織工程研究》2017年25期


【摘要】:背景:X染色體短串聯(lián)重復序列(short tandem repeat on chromosome X,X-STR)具有特殊的遺傳規(guī)律,使其在法醫(yī)物證鑒定中表現(xiàn)出常染色體遺傳標記無法比擬的優(yōu)點。但其群體遺傳學研究數據遠比不上常染色體STR,尤其是單倍型遺傳數據的報道在國內外均很少見。目的:通過家系分析,研究深圳地區(qū)12個X染色體STR基因座的遺傳多態(tài)性,為X-STR在法醫(yī)學、遺傳學的應用提供科學有效的數據。方法:常規(guī)Chelex-100法提取118個家系的血樣DNA,使用Investigator Argus X-12試劑盒進行PCR擴增。用直接計數法和Excel軟件統(tǒng)計231個無關個體的等位基因頻率,并用卡方檢驗對女性樣本的12個X-STR基因座進行Hardy-Weinberg平衡檢驗,根據公式計算個體識別力和平均排除率。采用家系分析確定女性樣本的單倍型,用直接計數法和Excel軟件計算111位父親和119位母親的4個連鎖群的單倍型頻率。結果與結論:(1)基因多態(tài)性分析:DXS10135基因座的多態(tài)性最高,檢出了21個等位基因;DXS7423基因座多態(tài)性最差,僅有4個等位基因;男性累積個體識別力DPm為0.999 999 99;女性累積個體識別力DPf為0.999 999 99;累積三聯(lián)體平均排除率MECtrio為0.999 999 99;累積二聯(lián)體平均排除率MECduo為0.999 998 11;(2)單倍型分析:試驗獲得了349個單倍型。連鎖群X1-X4中分別有238,139,153和157個不同的單倍型;(3)結果說明,X-12檢測系統(tǒng)在中國深圳地區(qū)具有較高的遺傳多態(tài)性,在法醫(yī)學個體識別及親權鑒定中具有重要的應用價值。
[Abstract]:Background: the X chromosome short tandem repeats (short tandem repeat on chromosome X, X-STR) have special genetic rules, which show the unparalleled advantage of autosomal genetic markers in forensic identification, but the data on population genetics are far less than those of the normal chromophore STR, especially the haplotype genetic data. It is rare both at home and abroad. Objective: To study the genetic polymorphism of 12 X chromosome STR loci in Shenzhen area by family analysis. To provide scientific and effective data for the application of X-STR in forensic medicine and genetics. Method: conventional Chelex-100 method was used to extract DNA of blood samples from 118 families and PCR amplification by Investigator Argus X-12 kit. The counting method and Excel software were used to calculate the allele frequency of 231 independent individuals, and the chi square test was used to test the Hardy-Weinberg balance of 12 X-STR loci in female samples. The individual identification power and average exclusion rate were calculated according to the formula. Family analysis was used to determine the single fold of the female samples, and the direct counting method and the Excel software were used to calculate 111. The haplotype frequency of the 4 linkage groups of the parent and 119 mothers. Results and conclusions: (1) genetic polymorphism analysis: the polymorphism of the DXS10135 loci was the highest, 21 alleles were detected; the DXS7423 locus was the worst polymorphism, only 4 alleles, and the male cumulative individual DPm was 0.99999999, and the female cumulative individual recognition power of 0. was 0.. 99999999, the cumulative average elimination rate of the cumulative three body was MECtrio 0.99999999, and the cumulative average removal rate of two was 0.99999811; (2) haplotype analysis: the test obtained 349 haplotypes. There were 238139153 and 157 different haplotypes in the chain X1-X4, and (3) the X-12 detection system was higher in the Shenzhen region of China. Genetic polymorphism has important application value in forensic individual identification and paternity testing.
【作者單位】: 深圳市血液中心輸血醫(yī)學研究所;廣東南天司法鑒定所中心實驗室;
【基金】:深圳市科技計劃項目(201302152)~~
【分類號】:R394

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