ABSTRACT
Some STR loci have internal sequence variations, which are not revealed by the standard STR typing methods used in forensic genetics (PCR and fragment length analysis by capillary electrophoresis (CE)). Typing of STRs with next-generation sequencing (NGS) uncovers the sequence variation in the repeat region and in the flanking regions. In this study, 363 Danish individuals were typed for 56 STRs (26 autosomal STRs, 24 Y-STRs, and 6 X-STRs) using the ForenSeq™ DNA Signature Prep Kit to establish a Danish STR sequence database. Increased allelic diversity was observed in 34 STRs by the PCR-NGS assay. The largest increases were found in DYS389II and D12S391, where the numbers of sequenced alleles were around four times larger than the numbers of alleles determined by repeat length alone. Thirteen SNPs and one InDel were identified in the flanking regions of 12 STRs. Furthermore, 36 single positions and five longer stretches in the STR flanking regions were found to have dubious genotyping quality. The combined match probability of the 26 autosomal STRs was 10,000 times larger using the PCR-NGS assay than by using PCR-CE. The typical paternity indices for trios and duos were 500 and 100 times larger, respectively, than those obtained with PCR-CE. The assay also amplified 94 SNPs selected for human identification. Eleven of these loci were not in Hardy-Weinberg equilibrium in the Danish population, most likely because the minimum threshold for allele calling (30 reads) in the ForenSeq™ Universal Analysis Software was too low and frequent allele dropouts were not detected.
Subject(s)
DNA Fingerprinting , Databases, Nucleic Acid , Microsatellite Repeats , Sequence Analysis, DNA/instrumentation , Sequence Analysis, DNA/methods , Alleles , Denmark , Female , Genetics, Population , Genotype , Haplotypes , Humans , INDEL Mutation , Male , Polymerase Chain Reaction , Polymorphism, Single NucleotideABSTRACT
BACKGROUND: Laser and radiofrequency induced volume reduction of the inferior turbinates are frequently used treatment modalities. Which of both is superior, however, is not clear to date due to a lack of controlled prospective studies. Here, we compare both methods regarding improvement of nasal breathing, complications, patient comfort and wound healing. METHODOLOGY: Prospective, randomized, single-blinded clinical trial with intra-individual design. After randomization, one side of the nose was treated with a 940nm diode laser and the other side with bipolar radiofrequency therapy. Pre- and postoperative evaluation was performed using visual analogue scales, nasal endoscopy and objective measurements of nasal patency. RESULTS: Of 27 enrolled patients, 26 completed the protocol. No severe complications were observed. Intraoperative discomfort was significantly more severe on the radiofrequency side. After three months, a significant reduction of nasal obstruction was observed for laser treatment and radiofrequency therapy with no significant difference between them. Objective parameters did not improve significantly. When asked which treatment modality they would chose again 50 % of the patients decided for radiofrequency treatment, 23 % for laser treatment, and 19 % for both. CONCLUSION: DLVR and RFVR are well-tolerated treatment modalities and both significantly reduce the degree of nasal obstruction in patients with hypertrophic inferior turbinates. There was no significant difference between both treatment modalities regarding efficiency.
