中国深圳地区12个X染色体短串联重复序列基因座的遗传多态性:一项家系调查分析

发布时间：2018-07-04 23:48

本文选题：组织工程 + X染色体　；参考：《中国组织工程研究》2017年25期

【摘要】：背景:X染色体短串联重复序列(short tandem repeat on chromosome X,X-STR)具有特殊的遗传规律,使其在法医物证鉴定中表现出常染色体遗传标记无法比拟的优点。但其群体遗传学研究数据远比不上常染色体STR,尤其是单倍型遗传数据的报道在国内外均很少见。目的:通过家系分析,研究深圳地区12个X染色体STR基因座的遗传多态性,为X-STR在法医学、遗传学的应用提供科学有效的数据。方法:常规Chelex-100法提取118个家系的血样DNA,使用Investigator Argus X-12试剂盒进行PCR扩增。用直接计数法和Excel软件统计231个无关个体的等位基因频率,并用卡方检验对女性样本的12个X-STR基因座进行Hardy-Weinberg平衡检验,根据公式计算个体识别力和平均排除率。采用家系分析确定女性样本的单倍型,用直接计数法和Excel软件计算111位父亲和119位母亲的4个连锁群的单倍型频率。结果与结论:(1)基因多态性分析:DXS10135基因座的多态性最高,检出了21个等位基因;DXS7423基因座多态性最差,仅有4个等位基因;男性累积个体识别力DPm为0.999 999 99;女性累积个体识别力DPf为0.999 999 99;累积三联体平均排除率MECtrio为0.999 999 99;累积二联体平均排除率MECduo为0.999 998 11;(2)单倍型分析:试验获得了349个单倍型。连锁群X1-X4中分别有238,139,153和157个不同的单倍型;(3)结果说明,X-12检测系统在中国深圳地区具有较高的遗传多态性,在法医学个体识别及亲权鉴定中具有重要的应用价值。
[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.
【作者单位】：深圳市血液中心输血医学研究所;广东南天司法鉴定所中心实验室;
【基金】：深圳市科技计划项目(201302152)~~
【分类号】：R394

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