• Title/Summary/Keyword: Gene panel

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Improvement of the Discrimination Capacity through the Expansion of Y Chromosomal STR Markers

  • Dong Gyu Lee;So Eun Lee;Ji Hwan Park;Si-Keun Lim;Ju Yeon Jung
    • Biomedical Science Letters
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    • v.29 no.4
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    • pp.302-313
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    • 2023
  • Y chromosomal short tandem repeat (Y-STR) markers have been developed continuously to complement forensic DNA analyses and population genetic studies. Initially, we collected data from previously reported Korean population Y-STR haplotype studies on 1133 individuals. We then conducted a marker expansion analysis using a dataset from the Y-STR Haplotype Reference Database (YHRD), covering up to 29 Y-STRs, referred to as Ymax. Additionally, we examined the impact of rapidly mutating (RM) Y-STRs included in this expanded marker set on the discrimination capacity. We observed that marker expansions both with (0.9896), and without (0.9510), RM Y-STR improved the discrimination capacity. Subsequently, we focused on 16 individuals belonging to seven distinct groups sharing identical haplotypes. These particular haplotypes had been previously identified among 476 unrelated males using 23 Y-STR markers from the PowerPlex® Y23 System. We expanded the marker panel up to Ymax to explore how discrimination improved with an expansion of Y-STR markers for these 16 individuals. Among the expanded markers, DYS627, which had high discriminatory power, had a high mutation rate (1.10 × 10-2) and high gene diversity (0.83). In contrast, DYF387S1 displayed high gene diversity (0.95) but a relatively low mutation rate (2.80 × 10-3). We propose that these findings will be valuable in the selection of suitable Y-STR markers, depending on the objectives of forensic analyses. Additionally, the presence of frequently observed Y-haplotypes in Korean population will facilitate statistical interpretation in Y-STR DNA profiling.

Development of flat panel digital x-ray detectorusing a-Se (비정질 셀레늄을 이용한 평판 Digital X선 검출기 개발)

  • Park, J.K.;Choi, J.Y.;Kang, S.S.;Cha, B.Y.;Jang, G.W.;Choi, J.Y.;Nam, S.H.
    • Korean Journal of Digital Imaging in Medicine
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    • v.6 no.1
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    • pp.24-30
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    • 2003
  • Flat-panel detector(FPD) is the driving force for realizing the next gene ration of x-ray system. In this study, we developed amorphous selenium(a-Se) based flat-panel digital X-ray detector(DXD) for radiography. The prototype detector consists of an amorphous selenium layer and a thin-film transistor(TFT) array. Comparing to other papers1)-4), optimization of amorphous selenium and progress of evaporation were similar. The pixel pitch of fabricated detector was $139{\mu}m$, fill factor was 86%, and the size was 14"${\times}$8.5". Hand and test bar pattern images were acquired. A high modulation transfer function(MTF) factor was obtained: 58% at 3.0 lp/mm.

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Interfacial Reaction Between Oxide Fillers and $P_2O_5$ Glass Matrix for Barrier Ribs in Plasma Display Panel

  • Chong, Eu-Gene;Jeon, Jae-Sam;Sung, Woo-Kyung;Kim, Nam-Sok;Kim, Hyung-Sun
    • 한국정보디스플레이학회:학술대회논문집
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    • 2006.08a
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    • pp.935-937
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    • 2006
  • Phosphate glass system is expected to be useful as a lead-free material in many devices in plasma display panels (PDP). The present study is mainly focused on the evaluation of interface reaction between ceramic fillers and phosphate glass matrix for barrier ribs in PDP. The results suggest that properties of barrier rib depend on the crystallization behavior and interface reaction between the fillers and glass matrix.

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Mapping of the equine herpesvirus type 1 immediate-early protein interaction domain within the general transcription factor human TFIIB

  • Jang, Hyung-Kwan;Cho, Jeong-Gon;Song, Hee-Jong
    • Korean Journal of Veterinary Service
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    • v.25 no.4
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    • pp.333-346
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    • 2002
  • We previously reported that the equine herpesvirus type 1(EHV-1) immediate-early protein(IE protein) physically interacts with the general transcription factor human TFIIB(Jang et al, J Virol 75:10219-10230, 2001). The interaction between the IE protein and TFIIB is necessary for the IE protein to efficiently transactivate the early TK and late IR5 EHV-1 promoters. A panel of deletion and truncation mutants of the TFIIB gene was constructed and employed in protein-binding assays to map the IE protein-binding domain within TFIIB. Evidence is presented that the first direct repeat of TFIIB interacts specifically with the EHV-1 IE protein.

Etching Mechanism of Barrier Ribs in Plasma Display Panel (플라즈마 디스플레이 패널의 격벽형성의 에칭 메커니즘)

  • Chong, Eu-Gene;Jeon, Jae-Sam;Sung, Woo-Kyung;Kim, Hyung-Sun
    • Journal of the Semiconductor & Display Technology
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    • v.5 no.3 s.16
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    • pp.33-36
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    • 2006
  • To produce a fine structure with uniform surface of barrier ribs in PDP, acid etching process has been used in manufacture process. It is necessary to understand the mechanism of etching, particularly on the interface of ceramic fillers and matrix glass. We investigated the effect of ceramic fillers (ZnO, $Al_2O_3$) on the microstructure of borate glass system to find an etching mechanism of barrier ribs. The barrier ribs was etched with several steps, dissolving a small amount of residual glass, taking out alumina fillers, and removing a cluster type of ZnO fillers and glass matrix.

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Deletion of the Lmna Gene Induces Growth Delay and Serum Biochemical Changes in C57BL/6 Mice

  • Ruan, J.;Liu, X.G.;Zheng, H.L.;Li, J.B.;Xiong, X.D.;Zhang, C.L.;Luo, C.Y.;Zhou, Z.J.;Shi, Q.;Weng, Y.G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.1
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    • pp.123-130
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    • 2014
  • The A-type lamin deficient mouse line ($Lmna^{-/-}$) has become one of the most frequently used models for providing insights into many different aspects of A-type lamin function. To elucidate the function of Lmna in the growth and metabolism of mice, tissue growth and blood biochemistry were monitored in Lmna-deficient mice, heterozygous ($Lmna^{+/-}$) and wide-type ($Lmna^{+/+}$) backcrossed to C57BL/6 background. At 4 weeks after birth, the weight of various organs of the $Lmna^{-/-}$, $Lmna^{+/-}$ and $Lmna^{+/+}$ mice was measured. A panel of biochemical analyses consisting of 15 serological tests was examined. The results showed that Lmna deficient mice had significantly decreased body weight and increased the ratio of organ to body weight in most of tissues. Compared with $Lmna^{+/+}$ and $Lmna^{+/-}$ mice, $Lmna^{-/-}$ mice exhibited lower levels of ALP (alkaline phosphatase), Chol (cholesterol), CR (creatinine), GLU (glucose), HDL (high-density lipoprotein cholesterol) and higher levels of ALT (alanine aminotransferase) (p<0.05). $Lmna^{-/-}$ mice displayed higher AST (aspartate aminotransferase) values and lower LDL (lowdensity lipoprotein cholesterol), CK-MB (creatine kinase-MB) levels than $Lmna^{+/+}$ mice (p<0.05). There were no significant differences among the three groups of mice with respect to BUN (blood urea nitrogen), CK (creatine kinase), Cyc C (cystatin C), TP (total protein), TG (triacylglycerols) and UA (uric acid) levels (p>0.05). These changes of serological parameters may provide an experimental basis for the elucidation of Lmna gene functions.

Identification of Candidate Genes Associated with Beef Marbling Using QTL and Pathway Analysis in Hanwoo (Korean Cattle)

  • Park, Hye-Sun;Seo, Seong-Won;Cho, Yong-Min;Oh, Sung-Jong;Seong, Hwan-Hoo;Lee, Seung-Hwan;Lim, Da-Jeong
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.5
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    • pp.613-620
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    • 2012
  • Marbling from intramuscular fat is an important trait of meat quality and has an economic benefit for the beef industry. Quantitative trait loci (QTL) fine mapping was performed to identify the marbling trait in 266 Hanwoo steers using a 10K single nucleotide polymorphism panel with the combined linkage and linkage disequilibrium method. As a result, we found nine putative QTL regions for marbling: three on BTA6, two on BTA17, two on BTA22, and two on BTA29. We detected candidate genes for marbling within 1 cM of either side of the putative QTL regions. Additionally, to understand the functions of these candidate genes at the molecular level, we conducted a functional categorization using gene ontology and pathway analyses for those genes involved in lipid metabolism or fat deposition. In these putative QTL regions, we found 95 candidate genes for marbling. Using these candidate genes, we found five genes that had a direct interaction with the candidate genes. We also found SCARB1 as a putative candidate gene for marbling that involves fat deposition related to cholesterol transport.

Characterization of the MicroRNA Expression Profile of Cervical Squamous Cell Carcinoma Metastases

  • Ding, Hui;Wu, Yi-Lin;Wang, Ying-Xia;Zhu, Fu-Fan
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.4
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    • pp.1675-1679
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    • 2014
  • Objectives: MicroRNAs (miRNAs) are important regulators of many physiological and pathological processes, including tumorigenesis and metastasis. In this study, we sought to determine the underlying molecular mechanisms of metastatic cervical carcinoma by performing miRNA profiling. Methods: Tissue samples were collected from ten cervical squamous cancer patients who underwent hysterectomy and pelvic lymph node (PLN) dissection in our hospital, including four PLN-positive (metastatic) cases and six PLN-negative (non-metastatic) cases. A miRNA microarray platform with 1223 probes was used to determine the miRNA expression profiles of these two tissue types and case groups. MiRNAs having at least 4-fold differential expression between PLN-positive and PLN-negative cervical cancer tissues were bioinformatically analyzed for target gene prediction. MiRNAs with tumor-associated target genes were validated by quantitative reverse transcription-polymerase chain reaction (RT-PCR). Results: Thirty-nine miRNAs were differentially expressed (>4-fold) between the PLN-positive and PLN-negative groups, of which, 22 were up-regulated and 17 were down-regulated. Sixty-nine percent of the miRNAs (27/39) had tumor-associated target genes, and the expression levels of six of those (miR-126, miR-96, miR-144, miR-657, miR-490-5p, and miR-323-3p) were confirmed by quantitative (q)RT-PCR. Conclusions: Six MiRNAs with predicted tumor-associated target genes encoding proteins that are known to be involved in cell adhesion, cytoskeletal remodeling, cell proliferation, cell migration, and apoptosis were identified. These findings suggest that a panel of miRNAs may regulate multiple and various steps of the metastasis cascade by targeting metastasis-associated genes. Since these six miRNAs are predicted to target tumor-associated genes, it is likely that they contribute to the metastatic potential of cervical cancer and may aid in prognosis or molecular therapy.

Genes and SNPs Associated with Non-hereditary and Hereditary Colorectal Cancer

  • Nassiri, Mohammadreza;Kooshyar, Mohammad Mahdi;Roudbar, Zahra;Mahdavi, Morteza;Doosti, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5609-5614
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    • 2013
  • Background: Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering that the relationship between SNPs with diseases is a concern, many researchers believed that they offer valuable markers for identifying genes responsible for susceptibility to common diseases. In some cases, they are direct causes of human disease. One SNP can increase risk of cancer, but when considering the rate of overlap and frequency of DNA repair pathways, it might be expected that SNP alone cannot affect the final result of cancer, although several SNPs together can exert a significant influence. Therefore identification of these SNPs is very important. The most important loci which include mutations are: MLH1, MSH2, PMS2, APC, MUTYH, SMAD7, STK11, $XRCC_3$, $DNMT_1$, MTHFR, Exo1, $XRCC_1$ and VDR. Presence of SNPs in these genes decreases or increases risk of colorectal cancer. Materials and Methods: In this article we reviewed the Genes and SNPs associated with non-hereditary and hereditary of colorectal cancer that recently were reported from candidate gene y, meta-analysis and GWAS studies. Results: As with other cancers, colorectal cancer is associated with SNPs in gene loci. Generally, by exploring SNPs, it is feasible to predict the risk of developing colorectal cancer and thus establishing proper preventive measures. Conclusions: SNPs of genes associated with colorectal cancer can be used as a marker SNP panel as a potential tool for improving cancer diagnosis and treatment planning.

Deciphering the Genes for Taste Receptors for Fructose in Drosophila

  • Uchizono, Shun;Itoh, Taichi Q.;Kim, Haein;Hamada, Naoki;Kwon, Jae Young;Tanimura, Teiichi
    • Molecules and Cells
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    • v.40 no.10
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    • pp.731-736
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    • 2017
  • Taste sensitivity to sugars plays an essential role in the initiation of feeding behavior. In Drosophila melanogaster, recent studies have identified several gustatory receptor (Gr) genes required for sensing sweet compounds. However, it is as yet undetermined how these GRs function as taste receptors tuned to a wide range of sugars. Among sugars, fructose has been suggested to be detected by a distinct receptor from other sugars. While GR43A has been reported to sense fructose in the brain, it is not expressed in labellar gustatory receptor neurons that show taste response to fructose. In contrast, the Gr64a-Gr64f gene cluster was recently shown to be associated with fructose sensitivity. Here we sought to decipher the genes required for fructose response among Gr64a-Gr64f genes. Unexpectedly, the qPCR analyses for these genes show that labellar expression levels of Gr64d and Gr64e are higher in fructose low-sensitivity flies than in high-sensitivity flies. Moreover, gustatory nerve responses to fructose in labellar sensilla are higher in Gr64d and Gr64f mutant lines than in mutant flies of the other Gr64a-Gr64f genes. These data suggest the possibility that deletion of GR64D or GR64F may indirectly induce enhanced fructose sensitivity in the labellum. Finally, we conclude that response to fructose cannot be explained by a single one of the Gr64a-Gr64f genes.