Abstract
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.
Highlights
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) are widely accepted markers for forensic genetics[1,2]
The results demonstrated that this panel could tolerate hematin and humic acid in certain concentration ranges
Since all of the 18 Insertion/Deletion polymorphisms (InDels) were independent from each other, the combined forensic efficiency parameters were calculated based on allelic frequencies while Cumulative Discrimination Power for females (CDPfemale) was 0.999999726 and Cumulative Discrimination Power for males (CDPmale) was 0.999934223 in the HAN population. These results show that the 18 polymorphic and informative X-InDels included in this panel can provide helpful genetic information in HAN population
Summary
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) are widely accepted markers for forensic genetics[1,2]. Both of them have some disadvantages for forensic applications, such as comparatively high mutation rate for STRs1, or technical difficulties for SNP detection due to the lack of adequate typing equipment in forensic laboratories[2]. The probability of paternity exclusion can become greater for X-chromosomal markers than for autosomes when female offsprings are involved Such studies were already performed in some populations: Germany[5], Somalia and Iraq[6], Africa, Europe, East Asian and America[7,8], as well as Brazilian Amazon[9]. While working on deficient relationship cases and cases where autosomes are uninformative, the 18 polymorphic X-InDels can provide helpful genetic information
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