Mutational analysis of 23 autosomal short tandem repeats based on trio paternity testing in the Korean population.

This study aimed to estimate A-STR mutation rates in 2,317 Korean parent-child trios by examining 20 Combined DNA Index System (CODIS) core loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, D1S1656, D2S441, D2S1338, D10S1248, D12S391, D19S433, and D22S1045) and three non-CODIS loci (Penta E, Penta D, and SE33). Locus-specific mutation rate estimates varied from 0.00 to 8.63 × 10-3 per generation, with an average mutation rate of 1.62 × 10-3 (95 % CI, 1.39-1.88 × 10-3). We also combined data from previous studies to obtain comprehensive genetic values for the Korean population, and the average mutation rate was 1.59 × 10-3 (95 % CI, 1.38-1.82 × 10-3). Single-step mutations (95.69 %) and double-step mutations (3.35 %) were observed in the mutation pattern analysis, and cases expected to have multi-step mutations (0.96 %) were also observed. Large-sized alleles exhibited more loss mutations than gain mutations, and paternal mutations (62.68 %) were more frequently observed than maternal mutations (19.62 %). The calculated values and features of the 23 A-STRs explored in this study are expected to play a crucial role in establishing criteria for forensic genetic interpretation.

Analysis of mutation rates and haplotypes of 23 Y-chromosomal STRs in Korean father-son pairs.

Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic genetics, and accurate knowledge of mutation rates at Y-STR loci is essential in kinship analysis. The main aim of this study was to estimate Y-STR mutation rates in Korean males. To obtain locus-specific mutations and haplotypes at 23 Y-STRs, we analyzed samples from 620 Korean father-son pairs. In addition, we also analyzed 476 unrelated individuals using the PowerPlex® Y23 System, with the aim of augmenting the available data for the Korean population. The PowerPlex® Y23 system facilitates analysis of the 23 Y-STR loci (DYS576, DYS570, DYS458, DYS635, DYS389 II, DYS549, DYS385, DYS481, DYS439, DYS456, DYS389 I, DYS19, DYS393, DYS391, DYS533, DYS437, DYS390, Y GATA H4, DYS448, DYS438, DYS392, and DYS643). Locus-specific mutation rate estimates varied from 0.00 to 8.06 × 10-3 per generation, with an average mutation rate of 2.17 × 10-3 (95% CI, 1.5-3.1 × 10-3). To obtain comprehensive genetic values for the Korean population, we combined data obtained in this study with previously reported values, thereby enabling us to estimate the locus-specific mutation rates regarding 22,711 allele transmissions. By combining these data, we obtained an overall average mutation rate of 2.91 × 10-3 (95% CI, 2.3-3.7 × 10-3). In addition, among the 476 unrelated Korean males, we detected 467 different haplotypes, with an overall haplotype diversity value of 0.9999. By extracting haplotypes of Y-STRs described in previous literature on 23 Y-STR reported in Korea, we obtained gene diversities for 1133 Korean individuals. We believe that the values and characteristics of the 23 Y-STRs analyzed in this study will contribute to establishing criteria for forensic genetic interpretation, including kinship analysis.

Dutch listeners' perception of English lexical stress: A cue-weighting approach.

We investigate whether acoustic cue weightings are transferred from the native language to the second language [research question 1 (RQ1)], how cue weightings change with increasing second-language proficiency (RQ2), and whether individual cues are used independently or together in the second language (RQ3). Vowel reduction is a strong cue to lexical stress in English but not Dutch. Native English listeners and Dutch second-language learners of English completed a cue-weighting stress perception experiment. Participants heard sentence-final pitch-accented auditory stimuli and identified them as DEsert (initial stress) or deSSERT (final stress). The stimuli were manipulated in seven steps from initial to final stress, manipulating two dimensions at a time: vowel quality and pitch, vowel quality and duration, and pitch and duration (other dimensions neutralized). Dutch listeners relied less on vowel quality and more on pitch than English listeners, with Dutch listeners' sensitivity to vowel quality increasing with English proficiency but their sensitivity to pitch not varying with proficiency; Dutch listeners evidenced similar or weaker reliance on duration than did English listeners, and their sensitivity to duration increased with proficiency; and Dutch listeners' use of pitch and duration were positively related. These results provide general support for a cue-based transfer approach to the perception of lexical stress.

Validation and assessment of the Investigator® 24plex QS kit for forensic casework application: Comparison with the PowerPlex® fusion system and GlobalFiler™ PCR amplification kits.

Casework evidence samples are likely to be placed under diverse and harsh environments as compared to quantified DNA samples including serial-diluted standard DNA samples. Internal validation of a novel STR kit using casework evidence sample, which is conducted according to various conditions such as DNA contamination and degradation, is crucial before being used as a forensic application. Therefore, this study aimed to elucidate the reliability of the Investigator® 24plex QS kit through DNA derived from casework evidence and to assess whether it is applicable to STR analysis together with PowerPlex® Fusion System and GlobalFiler™ PCR Amplification Kit. DNA was extracted from 189 casework evidence samples in a total of 77 cases. The mismatch of the allelic size of this kit through allelic sizing precision test, was suitable according to ENFSI guidelines. All heterozygous balance of the three kits were above 0.6 recommended value of ENFSI guideline. The number of allele drop-in was most frequent in the GlobalFiler™ PCR Amplification Kit. In addition, the number of allele drop-out was most frequent in the Investigator® 24plex QS kit. The cutoff concentration of DNA detected in three kits of one complete STR was approximately 45 pg/µL on average. Despite of several limitations, the Investigator® 24plex QS kit is considered to have the capability to be used for STR analysis of casework evidence samples.

Population genetic study for 24 STR loci and Y indel (GlobalFiler™ PCR Amplification kit and PowerPlex® Fusion system) in 1000 Korean individuals.

Allele frequencies for 23 autosomal short tandem repeat loci (D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, TH01, FGA, D5S818, D13S317, D7S820, D2S441, D19S433, D22S1045, D10S1248, D1S1656, D12S391, D2S1338, SE33, Penta D, Penta E), 1 Y-chromosome short tandem repeat locus (DYS391) and Y indel were obtained from 1000 unrelated individuals of the Korean population.

Prediction of the rotational state of the humerus by comparing the contour of the contralateral bicipital groove: Method for intraoperative evaluation.

BACKGROUND: Accurate reduction of rotational displacement for transverse or comminute fracture of humeral shaft fracture is difficult during operation. The purpose of this study was to evaluate the reliability of the bicipital groove as a point of reference for the prediction of the rotational state of the humerus on two dimensional images of C-arm image intensifier during operation for humeral shaft fractures. MATERIALS AND METHODS: One hundred subjects, 62 male, 38 female, aged 22-53 years were recruited contralateral bicipital groove on the 45 degrees externally rotational standard anterior-posterior view recorded before surgery. Three observers, watched only contour of bicipital groove in monitor of C-arm image intensification with naked eye without looking at the subject and predicted rotational state of the humerus by comparing the contour of the opposite side of bicipital groove. The angle of discrepancy from real rotational position was then assessed. RESULTS: The mean (SD), angular discrepancy between the neutral point and the predicted angle was 3.4°(±2.7°). A value within 5° was present in 72% of cases. All observations were within 15°. There was no interobserver variation (P = 0.47). The intraclass correlation coefficient (ICC) was 0.847. CONCLUSION: Contour of the bicipital groove on simple radiograph was a useful landmark. Comparing the contour of the bicipital groove in the 45 degrees externally rotational standard view bilaterally, was an effective method for reduction of rotational displacement of the humerus.

Lower hip bone mass and proximal femur fractures in elderly patients: more valuable than lumbar vertebrae bone mineral density.

A decreased bone mineral density, such as osteoporosis, has been considered a factor closely associated with proximal femur fractures. We studied the relationship between osteoporosis and proximal femur fractures. Dual energy radiograph absorptiometry was used to measure the bone mineral density of 121 patients with a femur neck fracture and 134 patients with an intertrochanteric fracture. The bone density of the femoral neck, Ward's triangle, and the trochanteric region were measured. Two hundred seventeen normal patients who had undergone a bone mineral density test and were found to have no proximal femur fracture were used as the control group. Comparative analysis was performed after the patients were subdivided into different groups depending on sex and fracture type. The bone mineral density of the lumbar vertebra in patients with a proximal femur fracture was not significantly different from that of the control group, but the bone mineral density of the proximal femur in patients with a proximal femur fracture was significantly less than that of the control group. The bone mineral density of the group with an intertrochanteric fracture was lower than that of the femur neck fracture group. However, the difference was statistically insignificant. In bone mineral density comparisons, no significant differences were observed between the displaced and undisplaced femur neck fracture group and between the stable and the unstable intertrochanteric fracture group. The bone mineral density of elderly patients with a proximal femur fracture was significantly less than that of normal individuals. However, femur neck fractures in elderly men were less likely to be associated with a decreased bone mineral density. Little correlation between bone mineral densities of the proximal femur and fracture location (neck vs intertrochanter) and type (nondisplaced vs displaced neck, stable vs unstable intertrochanter) was found.