DNA谱的证据价值根据发现DNA的背景而变化。将DNA谱与混合物中的特定细胞表型链接可有助于评估其证据相关性和价值。我们报告了两种双功能高分辨率信使RNA(mRNA)测序测定法的开发,每种测定法都可以识别6种体液/组织(血液,精液,唾液,阴道分泌物,经血,皮肤)和,通过体液特异性mRNA转录物中存在的编码区SNP(cSNP),在混合物中直接将特定的体液与其特定的DNA供体相关联。原始的血液,精液,唾液(BSS)检测包含23个血液的cSNP,精液,还有唾液,虽然扩展的6F(所有6种液体/组织)测定包括BSS测定,并且还包含23个额外的阴道分泌物cSNP,经血,和皮肤。开发了软件工具来推断存在的体液的身份以及提供相应的cSNP基因型。伴随基因组DNA测定(BSS-d和6F-d),需要从感兴趣的人/推断的体液混合物贡献者那里对相同的cSNP进行基因型,也开发了。通过识别单源和双流体混合物的体液来源的能力证明了体液特异性。对所有体液的判别力(欧洲高加索人)为0.957-0.997,并考虑了连锁不平衡。使用相互的体液混合物(具有相同的两个供体但具有相反的体液类型的混合物对)来证明识别体液来源以及将两种流体中的每种流体的供体相关联的能力。
The evidentiary value of DNA profiles varies depending upon the context in which the DNA was found. Linking a DNA profile to a particular cellular phenotype in mixtures may aid in assessing its evidentiary relevance and value. We report the development of two dual-function high-resolution messenger RNA (mRNA) sequencing assays that can each identify the presence of 6 body fluids/tissues (blood, semen, saliva, vaginal secretions, menstrual blood, skin) and, via coding region SNPs (cSNPs) present in the body fluid-specific mRNA transcripts, directly associate particular body fluids with their specific DNA donors in mixtures. The original blood, semen, and saliva (BSS) assay contains 23 cSNPs for blood, semen, and saliva, while the expanded 6F (all 6 fluids/tissues) assay encompasses the BSS assay and also contains 23 additional cSNPs for vaginal secretions, menstrual blood, and skin. Software tools were developed to infer the identity of the body fluids present as well as providing the corresponding cSNP genotypes. Concomitant genomic DNA assays (BSS-d and 6F-d), required to genotype the same cSNPs from persons of interest/inferred contributors to the body fluid mixture, were also developed. Body fluid specificity was demonstrated by the ability to identify the body fluid origin of single-source and two-fluid admixtures. The discriminatory power (European Caucasians) for all body fluids is 0.957-0.997, with linkage disequilibrium considered. Reciprocal body fluid admixtures (mixture pairs with the same two donors but reversed body fluid types) were used to demonstrate the ability to identify the body fluid source of origin as well as associate the donor of each of the two fluids.