Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians
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DOI：
10.1007/s00414-004-0427-6
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发表时间：
2004-06-01
影响因子：
2.1
通讯作者：
Parsons, TJ
中科院分区：
文献类型：
--
作者：
Coble, MD;Just, RS;Parsons, TJ
我们对241名符合18种常见欧洲高加索人HV 1/HV 2类型之一的个体的整个线粒体DNA基因组（mtGenome）进行了测序，以确定允许额外法医鉴别的位点。我们发现，在整个线粒体基因组中，即使具有相同HV 1/HV 2类型的个体也很少匹配。将注意力限制在表型表达中性的位点上，我们选择了八组单核苷酸多态性（SNP）位点，这些位点可用于额外的区分。选择这些组以适合于多重SNP分型测定，每组7-11个位点。这些样本组对一种或多种常见的HV 1/HV 2类型（或密切相关的类型）具有特异性，允许采用定向方法，在保留有限病例样本提取物的同时，提供最大的额外鉴别机会。由这些小组提供的鉴别力将欧洲高加索人群中最常见类型的频率从相似的7%降低到相似的2%，我们分析的18种常见类型被分解为105种不同类型，其中55种只出现一次。
We have sequenced the entire mtDNA genome (mtGenome) of 241 individuals who match 1 of 18 common European Caucasian HV1/HV2 types, to identify sites that permit additional forensic discrimination. We found that over the entire mtGenome even individuals with the same HV1/HV2 type rarely match. Restricting attention to sites that are neutral with respect to phenotypic expression, we have selected eight panels of single nucleotide polymorphism (SNP) sites that are useful for additional discrimination. These panels were selected to be suitable for multiplex SNP typing assays, with 7-11 sites per panel. The panels are specific for one or more of the common HV1/HV2 types (or closely related types), permitting a directed approach that conserves limiting case specimen extracts while providing a maximal chance for additional discrimination. Discrimination provided by the panels reduces the frequency of the most common type in the European Caucasian population from similar to7% to similar to2%, and the 18 common types we analyzed are resolved to 105 different types, 55 of which are seen only once.