Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China.
Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China.
复制标题
X-插入/缺失多态性panel的开发验证及其在中国汉族人群中的应用。
DOI：
10.1038/srep18336
复制
发表时间：
2015-12-14
影响因子：
4.6
通讯作者：
Li C
中科院分区：
文献类型：
--
作者：
Zhang S;Sun K;Bian Y;Zhao Q;Wang Z;Ji C;Li C
InDel是短长度多态性，其特征在于低突变率、高群体间多样性、短扩增子策略和简单的实验室分析。这项工作描述了在一个单一的PCR系统中扩增18个双等位基因标记和釉原蛋白的X-InDels面板的开发验证。开发验证表明，这种新的面板是可重复的，准确的，灵敏的和强大的法医应用。该小组的灵敏度测试是这样的，即使用125 pg的人DNA也可以获得完整的谱，其中基因座内平衡高于70%。通过与各种常见动物种属和微生物无交叉反应性证明了专属性检测。对于PCR抑制情况下的稳定性检测，已获得血红素（≤1000 μM）和腐殖酸（≤150 ng/μL）的完整图谱。在中国汉族人群中18个X-InDels的法医学调查中，没有一个位点偏离Hardy-Weinberg平衡和连锁不平衡。由于它们彼此独立，所以CDP女性为0.99999726，CDP男性为0.999934223。法医学参数表明，这个X-Indel面板是多态性和信息，这提供了有价值的X连锁的信息，缺乏关系的情况下，常染色体标记是无信息的。
InDels are short-length polymorphisms characterized by low mutation rates, high inter-population diversity, short amplicon strategy and simplicity of laboratory analysis. This work describes the developmental validation of an X-InDels panel amplifying 18 bi-allelic markers and Amelogenin in one single PCR system. Developmental validation indicated that this novel panel was reproducible, accurate, sensitive and robust for forensic application. Sensitivity testing of the panel was such that a full profile was obtainable even with 125 pg of human DNA with intra-locus balance above 70%. Specificity testing was demonstrated by the lack of cross-reactivity with a variety of commonly encountered animal species and microorganisms. For the stability testing in cases of PCR inhibition, full profiles have been obtained with hematin (≤1000 μM) and humic acid (≤150 ng/μL). For the forensic investigation of the 18 X-InDels in the HAN population of China, no locus deviated from the Hardy–Weinberg equilibrium and linkage disequilibrium. Since they are independent from each other, the CDPfemale was 0.999999726 and CDPmale was 0.999934223. The forensic parameters suggested that this X-Indel panel is polymorphic and informative, which provides valuable X-linked information for deficient relationship cases where autosomal markers are uninformative.