SummarySegmental copy-number variations (CNVs) may contribute to genetic variation in humans. In this study, we examined 80 unrelated Japanese individuals using a microarray (2,238 Bac-clones) based comparative genomic hybridization (array-CGH) assay. We found a total of 251 CNVs at 30 different regions in the genome; of these, 14 (termed 'rare' CNVs) were found individually located within distinct genomic regions of 14 individuals, while the remaining 16 CNV regions (termed 'polymorphic' CNVs) were observed in two or more individuals. The rare CNVs were confirmed by quantitative polymerase chain reactions, and characterized more precisely than in previous reports using array CGH. Distinctive features of these CNVs were observed: most prominent was that the majority of the rare CNVs presented on Bac-clones that did not overlap with regions of segmental duplication. About 90% of the polymorphic CNVs observed in this population had been previously identified, with the majority of those polymorphic CNVs located in regions of segmental duplication. It is likely, therefore, that rare and polymorphic CNVs arise through different genetic mechanisms. Since more than half of the rare CNVs are novel, it is also likely that different human populations bear different CNVs, as is the case for single-nucleotide-polymorphisms (SNPs) and insertion-deletion (indel) polymorphisms.

Segmental copy-number variations (CNVs) may contribute to genetic variation in humans. Reports of the existence and characteristics of CNVs in a large Japanese cohort are quite limited. We report the data from a large Japanese population. We conducted population screening for 213 unrelated Japanese individuals using comparative genomic hybridization based on a bacterial artificial chromosome microarray (BAC-aCGH). We summarize the data by focusing on highly polymorphic CNVs in ≥5.0% of the individual, since they may be informative for demonstrating the relationships between genotypes and their phenotypes. We found a total of 680 CNVs at 16 different BAC-regions in the genome. The majority of the polymorphic CNVs presented on BAC-clones that overlapped with regions of segmental duplication, and the majority of the polymorphic CNVs observed in this population had been previously reported in other publications. Some of the CNVs contained genes which might be related to phenotypic heterogeneity among individuals.

Copy-number variations (CNVs) may contribute to genetic variation in humans. Reports regarding existence and characteristics of CNVs in a large apparently healthy Japanese cohort are quite limited. We report the data from a screening of 213 unrelated Japanese individuals using comparative genomic hybridization based on a bacterial artificial chromosome microarray (BAC aCGH). In a previous paper, we summarized the data by focusing on highly polymorphic CNVs (in ≥5.0 % of the individuals). However, rare variations have recently received attention from scientists who espouse a hypothesis called “common disease and rare variants.” Here, we report CNVs identified in fewer than 10 individuals in our study population. We found a total of 126 CNVs at 52 different BAC regions in the genome. The CNVs observed at 27 of the 52 BAC-regions were found in only one unrelated individual. The majority of CNVs found in this study were not identified in the Japanese who were examined in the other studies. Family studies were conducted, and the results demonstrated that the CNVs were inherited from one parent in the families.

The stain quantification method using image analysis is excellent because it is non-destructive and applicable for non-uniformly adhered stains. The technique is difficult to adapt to colorless stains, but can be used by coloring the stains. However, low-polarity oils have poor compatibility even with oil-soluble dyes, and it is difficult to accurately quantify them from the appearance. The purpose of this paper is to examine the quantification of low-polarity oily stains by three methods: (1) search for a dye tracer suitable for non-polar oil; (2) use an ultraviolet (UV) image by mixing a fluorescent tracer; and (3) use an UV image using a model stain that absorbs UV rays. In the experiment, the soiled samples were prepared by dropping soiling liquid on a cotton fabric and washing with a tergotometer, and the cleaning efficiency was determined from the image obtained with a digital camera. Results showed that Elixa Red 348 with lower polarity than Sudan IV and Oil Red O is superior as a dye tracer for non-polar oil. In the fluorescence tracer method, the sum of G values (Σ G) in the red, green, blue signals of the image data can be used, but the decrease in fluorescence over time is a problem in the case of pyrene. It was also found that UV-absorbing stains such as alkylbenzene can be quantified from UV images by utilizing the slight fluorescence coloration of cotton fabric generated under 254 nm UV irradiation. The future potential of image analysis methods for quantifying non-polar oily stains was suggested.