• 대한임상검사과학회지
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• 제40권1호
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• pp.41-47
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• 2008

Colorectal carcinoma is occurred frequently to Korean and so ranked the fourth from various cancers. Due to western dietary life, this cancer has been increased continually. Therefore, the study will be needed to find a candidate gene involved in the development and progression of colorectal carcinoma and to diagnose and treatment helpfully. The striking feature from cancer suppressor genes is known for LOH (loss of heterozygosity), which is the method to find allele genetic loss or mutation of cancer cell. The purpose of this study was designed to find a carcinogenic gene from colon cancer using microsatellite marker on 17th and 18th chromosome from 30 subjects. The LOH was investigated in order of D18S59 57% (17/30), TP53CA 50% (15/30), D18S68 47% (14/30), D18S69 43% (13/30). The genetic mutation depends on loci of colorectal carcinoma was shown higher with 2.44 from colon cancer than with 1.25 from right colorectal carcinoma (p<0.032). The genetic mutation with lymph nodes was investigated higher with 2.69 at mutated group than with 1.14 at non-mutated group (p<0.003). At genetic mutated pattern depends on disease stage, there was higher significant difference at III-IV stage 2.50 than that of I-II stage 1.17, respectively (p=0.015). There was no difference at comparison between histological classification and serological CEA increase. The loss on 18q21 found in this study is highly recurrence loci and was observed 43% for Korean with high recurrence. Therefore, LOH is a very useful tool to detect 18q21 loci in clinical application, prior to the treatment of colorectal carcinoma. After the operation of colorectol carcinoma, the efficient application using LOH at operated part tissue which is designed to protect the recurrence as well as its cure will be needed.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.1-4
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• 1999

Scimitar syndrome is a rare congenital anomaly that is characterized by hypoplasia of the right lung and the right pulmonary artery with anomalous pulmonary venous drainage to the inferior vena cava. The scimitar vein is usually visible on chest radiographs, but may be obscured by the heart. It is essential for surgical correction to establish the point of drainage of the anomalous vein and associated anomalies. There are recent reports of familial total anomalous pulmonary venous return suggesting heritable forms of this anomaly. Although genetic factors are believed to have important roles in congenital heart disease, few genes involved in heart development have been located. We report a case of familial chromosome 9 inversion with Scimitar syndrome in an offspring who presented with dextrocardia. Evaluation with magnetic resonance cineangiograph imaging demonstrated an anomalous pulmonary vein draining into the inferior vena cava above the diaphragm and hypoplasia of the right lung and the right pulmonary artery. Chromsome analysis showed pericentric inversion of chromosome 9, inv 9 (p13, q21), in the patient and his mother as well. A brief review of the related literature is also included.

• 대한두경부종양학회지
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• 제24권1호
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• pp.33-42
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• 2008

Head and neck squamous cell carcinoma(HNSCC) is notorious for its poor outcome and increasing incidence. But, the studies of cytogenetic analysis in HNSCC are relatively rare, because of difficulties in culturing solid tumor cells and complexity in chromosomal DNA abberations associated with the lesions. The purpose of this study is to evaluate the location of chromosomal aberrations in Korean HNSCC cell lines (SNU-1041, 1066, and 1076) with comparative genomic hybridization(CGH) and array based CGH(array-CGH). Chromosomal gains of 3q23-q27, 5p13-p15.3, 7p21-pter, 8q11.2-q12, 8q21.1-qter, 9q22-q34, 16q22-q24, and 20q11.2-qter, as well as chromosomal losses on 3p10-p14 were found in all 3 SNU cell lines. Losses on 3p15- p23, 4q22-q27, 4q31.3-qter, 6q14-q15, 7q31-q34, 8p12-pter, 18q21-q23, and 21q11.2-q12 were observed in 2 of 3 cell lines. In array-CGH, many genes were altered including gains of PIK3CA, MYC, EVI1, MAD1L1 genes and losses of SERPIN genes. These aberrations of gene and chromosome coincide with other results of study, generally. These data about the patterns of chromosomal aberrations could be a basic step for understanding more detailed genetic events in the carcinogenesis and also provide information for diagosis and treatment in HNSCC.

• Genomics & Informatics
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• 제7권3호
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• pp.159-162
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• 2009

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2, a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.

• 농업과학연구
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• 제45권4호
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• pp.707-713
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• 2018

This study was done to search for positional candidate genes associated with the back fat thickness trait using a Genome-Wide Association Study (GWAS) in purebred Yorkshires (N = 1755). Genotype and phenotype analyses were done for 1,642 samples. As a result of the associations with back fat thickness using the Gemma program (ver. 0.93), when the genome-wide suggestive threshold was determined using the Bonferroni method ($p=1.61{\times}10^{-5}$), the single nucleotide polymorphism (SNP) markers with suggestive significance were identified in 1 SNP marker on chromosome 2 (MARC0053928; $p=3.65{\times}10^{-6}$), 2 SNP markers on chromosome 14 (ALGA0083078; $p=7.85{\times}10^{-6}$, INRA0048453; $p=1.27{\times}10^{-5}$), and 1 SNP marker on chromosome 18 (ALGA0120564; $p=1.44{\times}10^{-5}$). We could select positional candidate genes (KCNQ1, DOCK1, LOC106506151, and LOC110257583), located close to the SNP markers. Among these, we identified a potassium voltage-gated channel subfamily Q member gene (KCNQ1) and the dedicator of cytokinesis 1 (DOCK1) gene associated with obesity and Type-2 diabetes. The SNPs and haplotypes of the KCNQ1 and DOCK1 genes can contribute to understanding the genetic structure of back fat thickness. Additionally, it may provide basic data regarding marker assisted selection for a meat quality trait in pigs.

• Genomics & Informatics
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• 제7권3호
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• pp.152-158
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• 2009

Although the genetic basis for bone mineral density (BMD) has been studied by many groups so far, genes responsible for this complex trait has not been completely revealed. In order to localize quantitative trait loci (QTLs) for BMD variation in Asian population, the study was designed using a group of Mongolian population, a genetically closed population with a homogeneous lifestyle. BMD was measured at the left and right wrists and ankles using DEXA in 1,082 participants from 142 families. Genotyping of 13 polymorphic microsatellite markers on chromosome 13 (average spacing 8-9 cM) and two-point and multipoint linkage analysis were performed. In two-point linkage analysis, we identified two markers, D13S175 (6.03 cM) and D13S265 (68.73 cM) that had LOD scores greater than 1 for left ankle (LOD=2.09, LOD=1.49, respectively). We also found a marker D13S175 (6.03 cM) with a high LOD for left wrist (LOD=1.49) and the markers D13S265 (68.73 cM) and D13S217 (17.21 cM) for the right wrist (LOD= 1.82, LOD= 1.62, respectively). Among these significant marker regions, only two regions at 17 cM (13p11) and 65 cM (13q21) for the right wrist overlapped with major QTLs reported in following multipoint linkage analysis (LOD= 1.7549, LOD=1.4462, respectively). This study provides the possible evidence of the presence of QTLs affecting right wrist BMD in Mongolian populations on 13p11 and 13q21. Modest evidence was also found for genes affecting left ankle and left wrist BMD on 13p13.

• Animal cells and systems
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• 제10권2호
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• pp.65-71
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• 2006

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21-23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.

• Molecules and Cells
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• 제21권2호
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• pp.192-196
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• 2006

Salt tolerance was evaluated at the young seedling stage of rice (Oryza sativa L.) using recombinant inbred lines (MG RILs) from a cross between Milyang 23 (japonica/indica) and Gihobyeo (japonica). 22 of 164 MG RILs were classified as tolerant with visual scores of 3.5-5.0 in 0.7% NaCl. Interval mapping of QTLs related to salt tolerance was conducted on the basis of the visual scores at the young seedling stage. Two QTLs, qST1 and qST3, conferring salt tolerance, were detected on chromosome 1 and 3, respectively, and the total phenotypic variance explained by the two QTLs was 36.9% in the MG RIL population. qST1 was the major QTL explaining 27.8% of the total phenotypic variation. qST1 was flanked by Est12~RZ569A, and qST3 was flanked by RG179~RZ596. The detection of new QTLs associated with salt tolerance will provide important information for the functional analysis of rice salt tolerance.

• Molecular & Cellular Toxicology
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• 제5권3호
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• pp.216-221
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• 2009

Bisphenol A (BPA) is commonly used in the production of pharmaceutical, industrial, and housing epoxy, as well as polycarbonate plastics. Owing to its extensive use, BPA can contaminate the environment either directly or through derivatives of these products. BPA has been classified as an endocrine disruptor chemicals (EDCs), and the primary toxicity of these EDCs in males involves the induction of reproductive system abnormality. First, in order to evaluate the direct effects on the Y chromosome associated with reproduction, we evaluated Y chromosome abnormalities using a Y chromosome microdeletion detection kit. However, we detected no Yq abnormality as the result of BPA exposure. Secondly, we performed high-density oligonucleotide array-based comparative genome hybridization (CGH) to assess genomic alteration as a component of our toxicity assessment. The results of our data analysis revealed some changes in copy number. Seven observed features were gains or losses in chromosomal DNA (P-value<1.0e-5, average log2 ratio>0.2). Interestingly, 21 probes of chr7:7312289-10272836 (qA1-qA2 in cytoband) were a commonly observed amplification (P-value 3.69e-10). Another region, chr14:4551029-10397399, was also commonly amplified (P-value 2.93e-12, average of log2 ratios in segment>0.3786). These regions include many genes associated with pheromone response, transcription, and signal transduction using ArrayToKegg software. These results help us to understand the molecular mechanisms underlying the reproductive effects induced by BPA.

• 대한두경부종양학회지
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• 제9권1호
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• pp.25-32
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• 1993

저자들은 배양에 성공한 결절성 갑상선종 2예와 유두성 갑상선암 2예에서 염색체 이상을 찾아내어 이러한 이상들이 서로 연관을 갖는지 여부를 연구하고자 본 실험을 시행하였다. 결절성 갑상선종의 염색체 형태는 매우 다양하게 나타나면서도 2예 모두가 특이적인 염색체 이상은 보이지 않았다. 제 1 예 : modal 염색체 슷자는 42에서 46범위 내였고 염색체 8, 19, 21, 22는 빈번한 결손을 보였다. 51개 분석 세포들 중에 9가지 구조적 변성이 관찰되었으나 집단 염색체 변화는 없었다. 제 2 예 : modal 염색체 수는 43이었고, 염색체 17과 19는 흔한 결손을 나타내었다. 이 두 결절성 갑상선종의 세포유전학적 특성은 저이배체(hypodiploidy)와 매우 다양한 염색체 양상을 나타내었다. 유두성 갑상선암에 대한 분석 결과는 다음과 같다. 제 3 예 : 다소의 숫적, 구조적 염색체 변화가 관찰되었으나 특이적인 염색체 이상은 찾아볼 수 없었다. 제 4 예 : 염색체 양상이 del(11)(q23)의 집단 염색체 변화를 수반하는 매우 다양한 이질적인 양상을 나타내었다. 유두성 갑상선암의 del(11)(q23) 염색체 변화는 이미 Eva Olah등이 1989년 보고한 바 있다. 아마도 갑상선에서 유두성 갑상선암의 암화과정에 11q 결손이 중요한 역할을 할 것으로 추정된다. 이상의 결과에 따르면 유두성 갑상선암과 결절성 갑상선종 둘 다 염색체 이상을 나타냈지만 양자간의 염색체의 특이적인 상관 관계를 발견할 수 없었다.