C-C motif Chemokine Ligand 3 Like 1 (CCL3L1) is characterized as a gene with copy number variable (CNV) and clustered at the segmental duplication on chromosome 17q12. CCL3L1 is responsible for the production of macrophage inflammatory protein (MIP) 1α that plays an important function in the immune system and host defense. Various copies range of CCL3L1 have been reported and associated with the diseases in different populations. Thus, this review aimed to summarise the distribution of CCL3L1 copy number from different populations according to the geographical region and highlighted the lacking of data from Malaysian population, which is one of the multi-ethnic countries due to the impacts of CCL3L1 copies on various diseases. Besides, we also outlined the methodologies available for the copy number typing. In overall, this review could provide significant information on the role of CCL3L1 copies in disease association and as well as providing evidence on the population diversity
Copy Number Variation

I showes the result of treatment of malignant diseases in digestive organs for last 20 years on our hospital.In Niigata prefecture, esophageal and gastric cancer cases are higher more than Japanese mean frequency of them.We have about 200 cases of gastric cancer every year. Out of them, operable cases have been decreased gradually, because of increase in cases done EMR (endoscopic mucosal resection).In operation method, total gastrectomy and pyloric resection cases decreased due to improve patient's QOL. Anticancer chemo-therapy into inoperable patients were done by new anticancer drugs, especially, combination therapy of TS-1 and paclitaxel is most effective compared of other drugs and combinations, that is, 13 months in mean survival time were performed.Number of cases of esophageal cancer has been increasing slowly, however, operable cases were not increasing, because of increasing of EMR. Presently, frequency of operation, EMR and chemotherapy with irradiation is almost similar.Number of cases in colon cancer has been increasing yearly, following colonofiberscopy (CF) with EMR or polypectomy (PP).Almost of advanced colon cancers were operable with laparostomy, however, before several years, laparoscopic colectomy (LAC) was performed, then, it reached to 40% among operable cases. By LAC, hospital period was shortened about a half of laparostomy.Number of cases of hepatocellular carcinoma (HCC) has been not increasing, so, cases of hepatic resection was stationary, because of TAE (transarterial embolization), RFA (radiofrequency ablation) and PEIT (percutaneus ethanol injection therapy) performed actively.Out of them, 5 year survival rate of lower biliary tract cancer patients were more higher than upper ones.Hereafter, based on above results, we have to make a effort to form a system of a cancer therapy, from prevention, diagnosis, and therapy to terminal care.
Therapeutic procedure ; Number ; Excision ; Digestive ; seconds

Genomic polymorphisms come in various forms including single nucleotide variations, translocations, insertions and copy number variations (CNVs). As a form of structural variation, the CNVs comprise common and rare forms based on their populational frequencies. Studies have demonstrated that certain CNVs are associated with risks for neuro-developmental diseases, viral infections, chronic inflammations, and cancers. With the development of high-resolution genome typing technologies such as microarrays and whole genome sequencing, the human genomic CNVs map has been continuously improved and refined. In-depth study of CNVs not only can provide comprehensive understanding for their structural variations and genetic evolution, but also provide new insights into genetic factors contributing to such diseases. In this paper, the general characteristics, pathogenesis and detection methods for the CNVs, as well as their association with human diseases are reviewed.
DNA Copy Number Variations ; Genetic Predisposition to Disease ; Humans

OBJECTIVETo investigate the genome copy number variation (CNV) related with keloid using the whole-gene resequencing technology.

METHODSA keloid pedigree containing 4 generation of 27 people was studied. Five people (4 cases of keloid patients, and 1 case of normal) were selected to extract the genomic DNA. Then the whole-gene resequencing technique was used to check the variations based on the Illumina Hiseq 2000.

RESULTSThrough database comparison and variation annotation analysis, 15 CNVs associated with scar hyperplasia were obtained. DAVID software was used to do the Gene Ontology and pathway analysis. Five CNVs were closely related to the keloid formation. They were growth factor receptor-bound 7 (Grb7), mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), mitogen-activated protein kinase kinase kinase 15 (MAP3K15), kruppel-like factors 7 (KLF7) and NK2 homeobox 2 (NKX2-2). These CNVs were involved in the process of epidermal cells formation and differentiation, cell exocrine and cell adhesion.

CONCLUSIONSThere are 5 CNVs associated with scar hyperplasia. Especially MAP3K15 and MAP4K4 deserve more research to find their function in keloid formation.

Copy number variation (CNV) is an important type of genomic structural variation and plays a crucial role in genomic disorders imposed by diseases. Most of the current bioinformatic researches focus on developing algorithms and tools for detecting CNVs from single or paired datasets, but the analysis of such CNVs is not sufficient from a family-based genetic point of view. We performed a trio-sample family based parents-offspring CNV analysis using the 1000G data. We found a number of CNVs that the offsprings inherited from their parents and inferred through hierarchical analysis how they were generated. In addition, we also discovered several de novo CNV candidates.
Algorithms ; Computational Biology ; DNA Copy Number Variations ; Genomics ; Humans

Neonatal screening is one of the crucial parts of the tertiary prevention strategy to reduce congenital disability. Traditional neonatal screening, mainly focusing on genetic metabolic diseases, has limitations in disease types and requires genetic testing for further validation and accurate typing. Currently, conducting genetic screening based on biochemical metabolite screening has become the trend in neonatal screening. This article synthesizes the current state of neonatal genome screening at home and abroad. Herein, the comprehensive concepts of "SNV Plus" (single nucleotide variation plus) and "CNV Plus" (copy number variation plus) have been proposed to develop a new technology that can detect the gene structure of SNV and CNV simultaneously and improve the level of neonatal genome screening based on characteristics of the pathogenic gene structure.
DNA Copy Number Variations ; Humans ; Infant, Newborn ; Neonatal Screening ; Nucleotides

DNA Copy Number Variations ; Heart Defects, Congenital/genetics* ; Humans

Recently, researches on copy number variation （CNV） have extended to every field, such as etiological exploration and precise treatment of complex diseases, as well as genetic breeding and evolution. The unique genetic characteristics of CNV have made people gradually believe that it could be used as a biological genetic marker to solve related problems. With the development of detection technology, application of CNV in forensic medicine will increase gradually. In this paper, the concept and development of CNV, as well as its application in forensic medicine are summarized, to provide new ideas for the practical application of CNV in the future.
DNA Copy Number Variations ; Forensic Medicine ; Genetic Markers

OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members. RESULTS: The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing. CONCLUSION The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations ; Heterozygote ; Pedigree ; Phenotype ; RNA Splicing ; Mutation

In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery. Recently, a number of CNV defining algorithms from SNP genotyping data have been developed; however, due to the fundamental limitation of SNP genotyping data for the measurement of signal intensity, there are still concerns regarding the possibility of false discovery or low sensitivity for detecting CNVs. In this study, we aimed to verify the effect of combining multiple CNV calling algorithms and set up the most reliable pipeline for CNV calling with Affymetrix Genomewide SNP 5.0 data. For this purpose, we selected the 3 most commonly used algorithms for CNV segmentation from SNP genotyping data, PennCNV, QuantiSNP; and BirdSuite. After defining the CNV loci using the 3 different algorithms, we assessed how many of them overlapped with each other, and we also validated the CNVs by genomic quantitative PCR. Through this analysis, we proposed that for reliable CNV-based genomewide association study using SNP array data, CNV calls must be performed with at least 3 different algorithms and that the CNVs consistently called from more than 2 algorithms must be used for association analysis, because they are more reliable than the CNVs called from a single algorithm. Our result will be helpful to set up the CNV analysis protocols for Affymetrix Genomewide SNP 5.0 genotyping data.
Coat Protein Complex I ; DNA Copy Number Variations ; Genetic Variation ; Humans ; Polymerase Chain Reaction