RESUMEN
In recent years, the insertion/deletion (InDel) polymorphism has become a preferred genetic marker in forensic genetics due to its low mutation rates and small amplicon sizes. In this study, a 36-InDelplex identification panel, consisting of autosomal 34 InDel loci, 1 Y InDel locus, and amelogenin, was developed, and gene frequencies in the Turkish population were determined. The loci of the InDel panel with global minimum allele frequencies (MAF) ≥ 0.4 were selected from the 1000 Genomes Project Phase 3 data. The amplicon sizes of the loci were designed in the range of 69-252 bp. In the validation study of the developed panel, analysis threshold, dynamic range, sensitivity, stochastic threshold, inhibitor tolerance, and reproducibility parameters were studied by following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The sensitivity studies indicated that complete and reliable InDel profiles could be obtained with 0.25 ng of DNA. A population study was evaluated using 250 samples from Turkey. The mean observed heterozygosity ratio (Ho) of all loci was 0.48. The combined discrimination power (CPD) is 0.999999999990867 and the combined exclusion probability (CPE) was 0.9930. The population comparison was also made using Turkish and the five major populations from the 1000 Genomes Phase 3 populations' data (Africa, Europe, East Asia, South Asia, and America). In conclusion, the results showed that the 36-InDelplex panel is a reliable, sensitive, and accurate system that is suitable for human identification and population genetics purposes.
RESUMEN
The incidence of invasive pneumococcal disease (IPD) has decreased after pneumococcal conjugate vaccine used; however, a breakthrough infection may still be seen after vaccination. In this study, eight pediatric inpatients and nine episodes with IPD in our center were included. Their age and gender, diagnoses, facilitating factors, the status of immunization and the antibiotic resistance of Pneumococci, serotypes of Pneumococci were noted. The isolates were subjected to disc susceptibility tests for penicillin, macrolides, and fluoroquinolones, according to the guidelines of the Clinical and Laboratory Standards Institute. Of the vaccinated seven cases, four of them (57.1%) developed IPD which their serogroups were in vaccine content. It was observed that all four cases in question had an underlying facilitating factor. Pneumococcal antibiotic susceptibility is also crucial. Three of nine isolates (33.4%) were resistant, and one isolate (11.2%) was intermediate susceptible to penicillin. Six of the nine isolates (66.7%) had macrolide resistance in our investigation. Invasive pneumococcal infections with serogroups that exist in pneumococcal conjugate vaccine content may occur in vaccinated individuals.