• Safety and Health at Work
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• v.2 no.1
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• pp.34-38
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• 2011

Objectives: The antimicrobial activity of silver nanoparticles has resulted in their widespread use in many consumer products. Yet, despite their many advantages, it is also important to determine whether silver nanoparticles may represent a hazard to the environment and human health. Methods: Thus, to evaluate the genotoxic potential of silver nanoparticles, in vivo genotoxicity testing (OECD 474, in vivo micronuclei test) was conducted after exposing male and female Sprague-Dawley rats to silver nanoparticles by inhalation for 90 days according to OECD test guideline 413 (Subchronic Inhalation Toxicity: 90 Day Study) with a good laboratory practice system. The rats were exposed to silver nanoparticles (18 nm diameter) at concentrations of $0.7\;{\times}\;10^6$ particles/$cm^3$ (low dose), $1.4\;{\times}\;10^6$ particles/$cm^3$ (middle dose), and $2.9\;{\times}\;10^6$ particles/$cm^3$ (high dose) for 6 hr/day in an inhalation chamber for 90 days. The rats were killed 24 hr after the last administration, then the femurs were removed and the bone marrow collected and evaluated for micronucleus induction. Results: There were no statistically significant differences in the micronucleated polychromatic erythrocytes or in the ratio of polychromatic erythrocytes among the total erythrocytes after silver nanoparticle exposure when compared with the control. Conclusion: The present results suggest that exposure to silver nanoparticles by inhalation for 90 days does not induce genetic toxicity in male and female rat bone marrow in vivo.

• Korean Journal of Veterinary Research
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• v.43 no.1
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• pp.25-29
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• 2003

This study was carried out to investigate a usefulness of the microsatellite DNA markers for parentage verification of Thoroughbred (TB) horses. 9 TB horses samples were genotyped for nine international minimum standard markers (AHT4, 5, ASB2, HMS3, 6, 7, HTG4, 10, and VHL20), and the additional panel of four markers, ASB17, CA425, LEX33, and TKY321. This methods consisted of multiplexing PCR procedures, and it showed reasonable amplification of all PCR products. Genotyping was performed with an ABI 310 genetic analyzer. Foal I was excluded according to principles of Mendelian genetics in AHT4 (H/K), ASB2 (Q/Q), HMS3 (I/P), HTG4 (M/O), HTG1O (K/R), VHL20 (M/P), ASB17 (F/N), LEX33 (M/O), and TKY321 (G/I) markets. Foal II was excluded with markers AHT5 (K/M), ASB2 (M/N), HMS7 (N/N), HTG1O (K/K), VHL20 (I/I), ASB17 (F/F) and TKY321 (G/I). Foal III was excluded with markers AHT4 (O/O), AHT5 (K/K), ASB2 (M/R), HMS6 (M/P), HMS7 (O/O), HTG10 (R/S), VHL20 (L/M), and ASB17 (N/O). These results suggest that the present DNA typing is so useful for parentage verification of TB horses.

• Korean Journal of Biological Psychiatry
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• v.22 no.4
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• pp.173-178
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• 2015

Objectives Previous genome-wide association studies have indicated the association between ankyrin 3 (ANK3) and the vulnerability of schizophrenia. We investigated the association between single nucleotide polymorphisms (SNPs) covering the whole ANK3 locus and schizophrenia in the Korean population. Methods The study subjects were 582 patients with schizophrenia and 502 healthy controls. Thirty-eight tag SNPs on ANK3 and five additional SNPs showing significant association with schizophrenia in previous studies were genotyped. Results Three (rs10994181, rs16914791, rs1938526) of 43 SNPs showed a nominally significant association (p < 0.05) with at least one genotype model. But none of these associations remained significant after adjusting for multiple testing errors with Bonferroni's correction. Conclusions We could not identify a significant association between ANK3 and schizophrenia in the Korean population. However, three SNPs showing an association signal with nominal significance need to be investigated in future studies with higher statistical power and more specific phenotype crossing the current diagnostic categories.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.118-122
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• 2015

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.100-108
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• 2015

Purpose: Conventional methods for the prenatal detection of fetal RhD status involve invasive procedures such as fetal blood sampling and amniocentesis. The identification of cell-free fetal DNA (cffDNA) in maternal plasma creates the possibility of determining fetal RhD status by analyzing maternal plasma DNA. However, some technical problems still exist, especially the lack of a positive control marker for the presence of fetal DNA. Therefore, we assessed the feasibility and accuracy of fetal RHD genotyping incorporating the RASSF1A epigenetic fetal DNA marker from cffDNA in the maternal plasma of RhD-negative pregnant women in Korea. Materials and Methods: We analyzed maternal plasma from 41 pregnant women identified as RhD-negative by serological testing. Multiplex real-time PCR was performed by amplifying RHD exons 5 and 7 and the SRY gene, with RASSF1A being used as a gender-independent fetal epigenetic marker. The results were compared with those obtained by postnatal serological analysis of cord blood and gender identification. Results: Among the 41 fetuses, 37 were RhD-positive and 4 were RhD-negative according to the serological analysis of cord blood. There was 100% concordance between fetal RHD genotyping and serological cord blood results. Detection of the RASSF1A gene verified the presence of cffDNA, and the fetal SRY status was correctly detected in all 41 cases. Conclusion: Noninvasive fetal RHD genotyping with cffDNA incorporating RASSF1A is a feasible, reliable, and accurate method of determining fetal RhD status. It is an alternative to amniocentesis for the management of RhD-negative women and reduces the need for unnecessary RhIG prophylaxis.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.85-91
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• 2015

Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.

• Asian-Australasian Journal of Animal Sciences
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• v.18 no.6
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• pp.780-786
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• 2005

This study presents a non-video, non-invasive, automatic, on-site monitoring system the system employs ultrasonic transducers to detect behavior in sows before, during and after parturition. An ultrasonic transmitting/receiving (T/R) circuit of 40 kHz was mounted above a conventional parturition bed. The T/R units use ultrasonic time-of-flight (TOF) ranging technology to measure the height of the confined sows at eight predetermined locations. From this data, three momentary postures of the sow are determined, characterized as standing-posture (SP), lateral-lying-posture (LLP) and sitting posture (STP). By examining the frequencies of position switch Stand-Up-Sequence (SUS) between standing-posture (SP), lateral-lying-posture (LLP) and sitting-posture (STP) rate can be determined for the duration of the sow' confinement. Three experimental pureblooded Landrace sows undergoing normal gestation were monitored for the duration of confinement. In agreement with common observation, the sows exhibited increased restlessness as parturition approached. Analysis of the data collected in our study showed a distinct peak in Stand-Up-Sequence (SUS, i.e. the transition from lying laterally to standing up ) and sitting-posture (STP) rate approximately 12 h prior to parturition, the observed peak being 5 to 10 times higher than observed on any other measurement day. It is concluded that the presented methodology is a robust, low-cost, lowlabor method for the continuous remote monitoring of sows and similar large animals for parturition and other behavior. It is suggested that the system could be applied to automatic prediction of sow parturition, with automatic notification of remote management personnel so human attendance at birth could reduce rates of sow and piglet mortality. The results of this study provide a good basis for enhancing automation and reducing costs in large-scale sow husbandry and have applications in the testing of various large mammals for the effects of medications, diets, genetic modifications and environmental factors.

• Asian-Australasian Journal of Animal Sciences
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• v.8 no.5
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• pp.495-498
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• 1995

Records taken on 372 young beef bulls tested at the Ellerslie Bull Test Station, Alberta, Canada from November 1981 to April 1987 were analyzed to quantify the effects of age of dam, on-test age, on-test liveweight and herd of origin of bull on feed efficiency (feed/gain, kg/kg) in the test period (n = 231) and ultrasonic measurement of bakcfat thickness (mm) at the end of the test (n = 372). The reduction in $R^2$ due to each influencing factor (i.e. the variation accounted for by the factor) was used to indicate the importance of the influencing factor. Age of dam and on-test age of bull were not important factors on feed/gain and ultrasonic backfat thickness, as they accounted for less than 0.5% of the variation in feed/gain and ultrasonic backfat thickness, respectively (p > 0.1). On-test liveweight had some influence on feed/gain and ultrasonic backfat thickness, accounting for 3.5% (p < 0.01) and 0.4% (p < 0.05) of the total variation, respectively. The regression coefficients of feed/gain and ultrasonic backfat thickness on on-test liveweight were 0.016 (kg/kg)/kg and .013 mm/kg, respectively, both being significant (p < 0.05), indicating that lighter bulls entering the test were generally more efficient in feed utilization in the test period and had less backfat at the end of the test than heavier entering bulls. Herd of origin of bull accounted for a substantial amount of the total variation (> 16%) in feed/gain and ultrasonic backfat thickness (p = 0.08), indicating that a prolonged aqjustment period was needed to reduce the influence of herd of origin when assessing aggregate genetic merit of beef bulls for growth rate, feed efficiency and lean meat production using a central station performance testing program.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.4
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• pp.1355-1360
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• 2012

Background: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of breast cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and Methods: We systematically searched PubMed, Embase, Elsevier and Springer for relevant articles published before Nov 2011. Summary odds ratio (OR) and 95% confidence interval (95% CI) incidence rates were calculated using a random-effects model with STATA (version 10.0) software. Results: A total of fifteen case-control studies, including 19,621 cases and 27,001 controls based on the search criteria, were included for analysis. A significant association was found between carrying the CHEK2 I157T variant and increased risk of unselected breast cancer (OR = 1.48, 95% CI = 1.31-1.66, P < 0.0001), familial breast cancer (OR = 1.48, 95% CI = 1.16-1.89, P < 0.0001), and early-onset breast cancer (OR = 1.47, 95% CI = 1.29-1.66, P < 0.0001). We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001). Conclusion: Our research indicates that the CHEK2 I157T variant may be another important genetic mutation which increases risk of breast cancer, especially the lobular type.

• Journal of Embryo Transfer
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• v.28 no.3
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• pp.163-168
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• 2013

Embryo transfer (ET) technology is of high importance in modern cattle breeding programs. ET is one step in the process of removing one or more embryos from the reproductive tract of an outstanding donor female and transferring them to one or more recipient females. Embryos also can be produced in the laboratory via techniques such as in vitro fertilization (IVF). But the actual transfer of an embryo is only one step in a series of processes that may include some or all of the following: superovulation and insemination of donors, collection of embryos, isolation, evaluation and short-term storage of embryos, micromanipulation and genetic testing of embryos, freezing of embryos and embryo transfer. Cryopreservation and direct transfer of frozen-thawed embryos is common-place with pregnancy rates near that of fresh embryos. Polymerase chain reaction (PCR) technology is currently being used for sexing embryos, and this technology will be used for "embryo diagnostics" and "embryo genomics" in the future. Although, many limitations and problems remain to overcome, these and other new technologies promise to change livestock breeding drastically in the next decade.