• Communications for Statistical Applications and Methods
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• v.16 no.6
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• pp.1037-1046
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• 2009

Copy number variations(CNVs) are known as one of the most important factors in susceptibility to genetic disorders because they affect expression levels of genes. In previous studies, pyrosequencing, mini-sequencing real-time polymerase chain reaction(PCR), invader assays and other techniques have been used to detect CNVs. However, the higher the copy number in a genome, the more difficult it is to resolve the copies, so a more accurate method for measuring CNVs and assigning genotype is needed. PCR followed by a quantitative oligonucleotide ligation assay(qOLA) was developed for quantifying CNVs. The aim of this study was to compare the two methods for detecting and quantifying the CNVs of duplicated gene: the published pyrosequencing assay(pyro_CNV) and the newly developed qOLA_CNV. The accuracy and precision of the assay were evaluated for porcine KIT, which was selected as a model locus. Overall, the root mean squares(RMSs) of bias and standard deviation of qOLA_CNV were 2.09 and 0.45, respectively. These values are less than half of those of pyro CNV.

• Journal of Environmental Health Sciences
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• v.42 no.4
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• pp.274-279
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• 2016

Objectives: We investigated bacterial diversity in the Han River water resource protection area in order to provide basic microbiological information on the drinking water safety of the Seoul metropolitan region. Methods: Samples were collected in the spring and winter, but not during the rainy season. Pyrosequencing, gene amplification, and extraction of nucleic acids were employed in this study. Results: In total, 57 and 48 operational taxonomic units were respectively analyzed in samples collected during spring and winter. Proteobacteria were predominant in all samples. The samples contained phylogenetically diverse bacterial communities, with eleven major phyla and 36 genera. Cyanobacteria were predominant in the spring samples, but not in the winter samples. The predominant species in the samples collected during both seasons belonged to the genus Aquamicrobium and Bradyrhizobium. Moreover, no pathogenic bacteria were detected in the samples. Conclusion: Proteobacteria were predominant in the samples from the Han River water source protection area. Cyanobacteria were more predominant in the spring samples than in the winter samples, but Aquamicrobium and Bradyrhizobium were predominant in both sampling seasons.

• Journal of Animal Science and Technology
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• v.49 no.5
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• pp.559-568
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• 2007

Recently, copy number variations (CNV) of genes or genomic segments have been intensively studied and various analysis methods have been developed. In this study, quantitative oligonucleotide ligation assay (qOLA) was applied to investigate CNV of KIT gene in the Landrace breed. A combined assay using qOLA and pyrosequencing, 6 genotype classes, I1/I1 or I3/i (IBe), I1/I2 or I3/IP, I1/I3, I1/IP or I2/i (IBe), I2/I2and I2/IP, were identified from 44 Landrace pigs. Genotype assignment using grouping features of measurements on a scatter plot showed 100% agreement with those using a statistical assignment by PROC FASTCLUS procedure implemented in the SAS package. Two versions (3100 and 3130) of ABI sequencers gave the same genotyping results, indicating there was no influence on qOLA by different versions of instrument, however, the means of standard deviation and coefficient of variation from the qOLA on a ABI 3130 (2.33 and 4.10) was lower than those from the qOLA on a ABI 3100 (2.67 and 4.81). Effect of proteinase K treatment on the PCR product followed by qOLA was very clear because noise peaks were disappeared and the observed ration fit better to the reference ratio corresponding to each genotype.