• Asian Pacific Journal of Cancer Prevention
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• 제14권5호
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• pp.2865-2869
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• 2013

Hepatitis B virus (HBV) infection can become chronic and if left untreated can progress to hepatocellular carcinoma (HCC).Thailand is endemic for HBV and HCC is one of the top five cancers, causing deaths among Thai HBV-infected males. A single nucleotide polymorphism (SNP) at the KIF1B gene locus, rs17401966, has been shown to be strongly associated with the development of HBV-related HCC. However, there are no Thai data on genotypic distribution and allele frequencies of rs17401966. Thai HBV patients seropositive for HBsAg (n=398) were therefore divided into two groups: a case group (chronic HBV with HCC; n=202) and a control group (HBV carriers without HCC; n=196). rs17401966 was amplified by polymerase chain reaction (PCR) and analyzed by direct nucleotide sequencing. The genotypic distribution of rs174019660 for homozygous major genotype (AA), heterozygous minor genotype (AG) and homozygous minor genotype (GG) in the case group was 49.5% (n=100), 40.1% (n=81) and 10.4% (n=21), respectively, and in controls was 49.5% (n=97), 42.3% (n=83) and 8.2% (n=16). Binary logistic regression showed that rs17401966 was not statistically associated with the risk of HCC development in Thai chronic HBV patients (p-value=0.998, OR=1.00 and 95% CI=0.68-1.48). In conclusion, the KIF1B gene SNP (rs174019660) investigated in this study showed no significant association with HBV-related HCC in Thai patients infected with HBV, indicating that there must be other mechanisms or pathways involved in the development of HCC.

• Asian-Australasian Journal of Animal Sciences
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• 제19권8호
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• pp.1065-1070
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• 2006

The avian uncoupling protein (avUCP) is a member of the mitochondrial transporter superfamily that uncouples proton entry in the mitochondrial matrix from ATP synthesis. The sequencing analysis method was used to identify nucleotide polymorphisms within the avUCP gene in Korean native chicken (KNC). This study identified ten single nucleotide polymorphisms (SNPs) in the avUCP gene. We analyzed the SNPs of the avUCP gene to investigate whether polymorphism in the gene might be responsible for quantitative variations in economic traits in KNC. Three significant polymorphic sites for economic traits were avUCP C+282T (mean body weight, p<0.05), avUCP C+433T (daily percent lay, p<0.05), and avUCP T+1316C (daily percent lay, p<0.05). The frequency of each SNP was 0.125 (C+282T in avUCP gene exon 1 region), 0.150 (C+433T in avUCP gene intron 1 region), and 0.15 (T+1316C in avUCP gene exon 3 region), respectively. Among the identified SNPs, one pair of SNPs (genotype CC, C+282T and TT, avUCP C+433T) showed the highest daily percent lay (p<0.05) and mean body weight (p<0.05) and the frequency was 0.067. This study of the avUCP gene could be useful for genetic studies of this gene and selection on economic traits for KNC.

• 한국응용곤충학회지
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• 제50권4호
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• pp.325-333
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• 2011

기후변화에 따른 고도별 곤충의 유전 변이를 분석하고자 배추에서 복숭아혹진딧물(Myzus persicae)을 지표해충으로 변이 분석이 가능한 마커를 개발하고자 하였다. 즉, 지역의 기후가 변하면 유전자가 변동할 것이라는 가설 하에 실내에서 누대 사육된 계통을 비교집단으로 가정하고 횡성, 평창과 강릉 지역에서 고도별 5개 지역(157 m, 296 m, 560 m, 756 m, 932 m)에서 채집된 지역 집단간의 변이를 찾고자 하였다. 생태적 변이는 모든 집단에서 찾을 수가 없었고, 에스터레이즈 동위효소 분석 및 inter-simple sequence repeat (ISSR) PCR 결과에서 실내 사육 계통과 지역 집단간의 차이는 보였으나 지역 집단간의 큰 차이는 찾을 수가 없었다. 그러나 rRNA와 mtCO I 부분 염기서열을 분석하여 5개의 지역집단 내에서 internal transcribed spacer-2 (ITS-2) 와 mtCO I에 각각 한 개씩의 단일염기다형성(SNP)를 발견하였다. 이 SNP는 유전 변동 추적이 가능한 매우 유용한 마커로 사용 될 수 있다.

• 한국균학회지
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• 제49권1호
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• pp.33-44
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• 2021

본 연구에서는 국내에 유통되고 있는 40개 표고 품종들로부터 산백향과 설백향의 구분이 가능한 CAPS 마커를 개발하였다. 제한효소 Hha I 과 HpyCH4IV를 이용한 밴드 패턴 분석을 통해 각각 산백향과 설백향을 다른 균주들과 구분하여 구별성을 확보할 수 있었다. 본 연구에서 개발된 CAPS 마커는 표고의 품종들 간에 유전적 다양성을 부여함으로써, 품종을 보호할 수 있는 분자생물학적 근거가 될 수 있다. 이로써 향후 유전자원에 대한 국가간 분쟁을 미연에 방지할 수 있을 것이다.

• Mycobiology
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• 제51권3호
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• pp.139-147
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• 2023

Aspergillus sojae has long been considered a domesticated strain of Aspergillus parasiticus. This study delineated relationships among the two species and an Aspergillus PWE36 isolate. Of 25 examined clustered aflatoxin genes of PWE36, 20 gene sequences were identical to those of A. sojae, but all had variations to those of A. parasiticus. Additionally, PWE36 developmental genes of conidiation and sclerotial formation, overall, shared higher degrees of nucleotide sequence identity with A. sojae genes than with A. parasiticus genes. Examination of defective cyclopiazonic acid gene clusters revealed that the PWE36 deletion pattern was identical only to those of A. sojae. Using A. sojae SMF134 genome sequence as a reference, visualization of locally collinear blocks indicated that PWE36 shared higher genome sequence homologies with A. sojae than with A. parasiticus. Phylogenetic inference based on genome-wide single nucleotide polymorphisms (SNPs) and total SNP counts showed that A. sojae strains formed a monophyletic clade and were clonal. Two (Argentinian and Ugandan) A. parasiticus isolates but not including an Ethiopian isolate formed a monophyletic clade, which showed that A. parasiticus population is genetically diverse and distant to A. sojae. PWE36 and A. sojae shared a most recent common ancestor (MRCA). The estimated divergence time for PWE36 and A. sojae was about 0.4 mya. Unlike Aspergillus oryzae, another koji mold that includes genetically diverse populations, the findings that current A. sojae strains formed a monophyletic group and shared the MRCA with PWE36 allow A. sojae to be continuously treated as a species for food safety reasons.

• Genomics & Informatics
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• 제4권1호
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• pp.45-47
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• 2006

D2GSNP is a web-based server for the selection of single nucleotide polymorph isms (SNPs) within genes related to human diseases. The D2GSNP is based on a relational database created by downloading and parsing OMIM, GAD, and dbSNP, and merging it with positional information of UCSC Golden Path. Totally our server provides 5,142 and 1,932 non-redundant disease genes from OMIM and GAD, respectively. With the D2GSNP web interface, users can select SNPs within genes responding to certain diseases and get their flanking sequences for further genotyping experiments such as association studies.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4689-4693
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• 2012

Lung cancer is the most common type of cancer and one of the leading causes of death in the world. Genetic factors play an important role in its development. PDCD6, the encoding gene for programmed cell death protein 6, may function as a tumor suppressor gene. Non-small cell lung cancer (NSCLC) contributes about 80% to newly histologically diagnosed lung cancer patients. To explore the relationship between PDCD6 and NSCLC, we examined two single nucleotide polymorphisms(rs3756712 G/T andrs4957014 G/T, both in the intron region) of the PDCD6gene.A hospital-based case-control study was carried out including 302 unrelated NSCLC patients and 306 healthy unrelated subjects. Significantly increased NSCLC risk was found to be associated with the T allele of rs4957014 (P=0.027, OR=0.760, 95%CI=0.596-0.970). The genotype and allele frequencies of rs3756712 did not shown any significant difference between NSCLC group and controls (P=0.327, OR=0.879, 95%CI=0.679-1.137). In conclusion, we firstly demonstrated the association between the PDCD6 gene and risk of NSCLC in a Chinese Han population.

• Genomics & Informatics
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• 제18권1호
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• pp.11.1-11.3
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• 2020

In genome-wide association studies, pathway-based analysis has been widely performed to enhance interpretation of single-nucleotide polymorphism association results. We proposed a novel method of hierarchical structural component model (HisCoM) for pathway analysis of common variants (HisCoM for pathway analysis of common variants [HisCoM-PCA]) which was used to identify pathways associated with traits. HisCoM-PCA is based on principal component analysis (PCA) for dimensional reduction of single nucleotide polymorphisms in each gene, and the HisCoM for pathway analysis. In this study, we developed a HisCoM-PCA software for the hierarchical pathway analysis of common variants. HisCoM-PCA software has several features. Various principle component scores selection criteria in PCA step can be specified by users who want to summarize common variants at each gene-level by different threshold values. In addition, multiple public pathway databases and customized pathway information can be used to perform pathway analysis. We expect that HisCoM-PCA software will be useful for users to perform powerful pathway analysis.

• Genomics & Informatics
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• 제18권1호
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• pp.6.1-6.9
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• 2020

Acute leukemia represents the most common pediatric malignancy comprising diverse subtypes with varying prognosis and treatment outcomes. New and targeted treatment options are warranted for this disease. Patient-derived xenograft (PDX) models are increasingly being used for preclinical testing of novel treatment modalities. A novel approach involving targeted error-corrected RNA sequencing using ArcherDX HemeV2 kit was employed to compare 25 primary pediatric acute leukemia samples and their corresponding PDX samples. A comparison of the primary samples and PDX samples revealed a high concordance between single nucleotide variants and gene fusions whereas other complex structural variants were not as consistent. The presence of gene fusions representing the major driver mutations at similar allelic frequencies in PDX samples compared to primary samples and over multiple passages confirms the utility of PDX models for preclinical drug testing. Characterization and tracking of these novel cryptic fusions and exonal variants in PDX models is critical in assessing response to potential new therapies.

• Journal of Acupuncture Research
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• 제21권2호
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• pp.31-40
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• 2004

목적 : 본 연구는 Interleukin 10 (IL10) 유전자 다형성이 구안와사의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 내원한 구안와사 환자 62명과 종합건진센터에 내원한 구안와사 기왕력이 없는 건강인 104명을 대상으로 하였다 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequendng 과정을 통하여 IL10의 유전형이 자동으로 판정되었다. 결과 : A/A, A/C의 두가지 유전자형이 검출되었으며 구안와사군과 대조군 사이에 유의성 있는 차이가 발견되지는 않았다(p=0.052). 또한 개별 allele 빈도에 있어서도 구안와사군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.064). 결론 : 이상의 결과를 통하여 IL10 유전자 다형성은 구안와사의 발병과는 관련성이 없는 것으로 사려된다. 그러나 더 많은 구안와사 환자를 대상으로 IL10 유전자와의 연관성에 대한 후속 연구가 필요하다고 하겠다.